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Showing articles in category Inherited diseases and malformations


SHORT COMMUNICATION - Volume 101, Issue 9 2021
Pustular Skin Lesions in an Adult Female Patient with X-linked Dominant Chondrodysplasia Punctata with a Novel Emopamil Binding Protein Mutation: A Rare Skin Manifestation
Akito Hasegawa, Satoru Shinkuma, Ryota Hayashi, Yutaka Shimomura, Riichiro Abe
SHORT COMMUNICATION - Volume 101, Issue 9 2021
Exacerbation of Hailey-Hailey Disease Following SARS-CoV-2 Vaccination
Gil Armoni-Weiss, Sivan Sheffer-Levi, Liran Horev, Laurent Klapholz, Emily Avitan-Hersh, Abraham Zlotogorski, Yuval Ramot
INVESTIGATIVE REPORT - Volume 101, Issue 9 2021
Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling
Mi-Ran Kim, Vinzenz Oji, Frederic Valentin, Heiko Traupe, Jerzy-Roch Nofer, Ingrid Hausser, Hans Christian Hennies, Katja Eckl, Stefan A. Wudy, Alberto Sánchez-Guijo, Laura Kerschke, Judith Fischer, Kira Süßmuth
QUIZ - Volume 101, Issue 7 2021
Seven- and 23-year-old Siblings with Papulonodular Lesions after Sun Exposure: A Quiz
Davide Neri, Karola Maria Stieler, Annika Vogt, Kamran Ghoreschi, Ulrike Blume-Peytavi
SHORT COMMUNICATION - Volume 101, Issue 8 2021
More about Zlotnikov, the Man Who Explained Blaschko’s Lines to be a Mosaic
Rudolf Happle, Eckart Haneke
CLINICAL REPORT - Volume 101, Issue 8 2021
Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: a 28-year Retrospective Study
Susan J. Robertson, Elizabeth Orrin, Manpreet K. Lakhan, Gavin O’Sullivan, Jessie Felton, Alistair Robson, Danielle T. Greenblatt, Catina Bernardis, John A. McGrath, Anna E. Martinez, Jemima E. Mellerio
SHORT COMMUNICATION - Volume 101, Issue 8 2021
Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations
Ping-Chen Hou, Ken Natsuga, Wei-Ting Tu, Hsin-Yu Huang, Brandon Chen, Liang-Yu Chen, Wan-Rung Chen, Yi-Kai Hong, Yen-An Tang, Julia Yu-Yun Lee, Peng-Chieh Chen, H. Sunny Sun, John A. McGrath, Chao-Kai Hsu
REVIEW - Volume 101, Issue 7 2021
Cutaneous Expression of Familial Cancer Syndromes
Anne-Johanne Andersen, Juliane Schierbeck, Anette Bygum, Nieves Puente-Pablo
QUIZ - Volume 101, Issue 7 2021
Linear Hyperkeratotic Papules and Comedo-like Plugs on the Extremities: A Quiz
Tian Chen, Dong-Lai Ma
INVESTIGATIVE REPORT - Volume 101, Issue 7 2021
Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases
Yueqian Yu, Zhenzhen Wang, Zihao Mi, Lele Sun, Xi'an Fu, Gongqi Yu, Zheng Pang, Hong Liu, Furen Zhang
INVESTIGATIVE REPORT - Volume 101, Issue 6 2021
The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study
Damiano Abeni, Roberta Rotunno, Andrea Diociaiuti, Simona Giancristoforo, Domenico Bonamonte, Angela Filoni, Carmelo Schepis, Maddalena Siragusa, Iria Neri, Annalucia Virdi, Daniele Castiglia, Giovanna Zambruno, Christine Bodemer, May El Hachem
INVESTIGATIVE REPORT - Volume 101, Issue 6 2021
Patients with Darier Disease Exhibit Cognitive Impairment while Patients with Hailey-Hailey Disease Do Not: An Experimental, Matched Case-control Study
Philip Curman, Johanna Bern, Linnea Sand, Martin Cederlöf, Etty Bachar-Wikström, Jakob D. Wikström
REVIEW - Volume 101, Issue 5 2021
Patient-reported Outcome Measures for Angioedema: A Literature Review
Anna Trier Heiberg Brix, Henrik Balle Boysen, Karsten Weller, Teresa Caballero, Anette Bygum
SHORT COMMUNICATION - Volume 101, Issue 4 2021
A Novel Case of Gorlin Syndrome Mosaicism Involving an SMO Gene Mutation: Clinical, Histological and Molecular Analysis of Basaloid Tumours
Meriem Ighilahriz, Sergey Nikolaev, Andrey A. Yurchenko, Maxime Battistella, Samia Mourah, Fanélie Jouenne, Emanuelle Bourrat, Nicole Basset-Seguin
REVIEW - Volume 101, Issue 4 2021
Darier Disease – A Multi-organ Condition?
Etty Bachar-Wikström, Jakob D. Wikström
SHORT COMMUNICATION - Volume 101, Issue 3 2021
Acute Variegate Porphyria in a Professional Bodybuilder after Starting a High-protein Diet and Treatment with Testosterone
Christiane S. Cussigh, Nina Trenkler, Jochen H. O. Hoffmann, Alexander H. Enk, Anke S. Lonsdorf
SHORT COMMUNICATION - Volume 101, Issue 3 2021
Two Cases of Porokeratosis with MVD Mutations, in Association with Bullous Pemphigoid
Yuki Arisawa, Yasutoshi Ito, Kana Tanahashi, Yoshinao Muro, Tomoo Ogi, Takuya Takeichi, Masashi Akiyama
INVESTIGATIVE REPORT - Volume 101, Issue 2 2021
Effect of Gentamicin Ointment in Patients with Nagashima-type Palmoplantar Keratosis: A Double-blind Vehicle-controlled Study
Yue Li, Xia Yu, Chaolan Pan, Yumeng Wang, Jianwen Han, Zhirong Yao, Ming Li
INVESTIGATIVE REPORT - Volume 101, Issue 2 2021
Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero­zygosity in Affected Skin
Sabine Jägle, Hazem A. Juratli, Geoffroy Hickman, Kira Süssmuth, Maria C. Boente, Julia Kopp, Peter Kirchmeier, Andreas Zimmer, Rudolf Happle, Emmanuelle Bourrat, Henning Hamm, Judith Fischer
SHORT COMMUNICATION - Volume 101, Issue 3 2021
Chronic Ulceration of the Scalp Associated with Genetically Different Types of Congenital Ichthyosis: A Series of Four Cases
Juliette Mazereeuw-Hautier, Emmanuelle Bourrat, Emilie Tournier, Maxime Battistella, José Bernabeu-Wittel, Sébastien Barbarot, Ángela Hernández-Martín
SHORT COMMUNICATION - Volume 101, Issue 1 2021
Hypohidrotic Ectodermal Dysplasia with c.28delG Mutation in Ectodysplasin A Gene and Severe Atopic Dermatitis Treated Successfully with Tofacitinib
Xiangqian Li, Xia Wu, Dirk M. Elston, Jianzhong Zhang, Cheng Zhou
INVESTIGATIVE REPORT - Volume 100, Issue 17 2020
Massively Parallel Sequencingof the Filaggrin Gene Reveals an Association Between FLG Loss-of-function Mutations and Leprosy
Wenhao Shi, Zihao Mi, Zhenzhen Wang, Huimin Zhang, Na Wang, Zhe Wang, Bowen Zhang, Qianqian Xia, Yueqian Yu, Gongqi Yu, Lele Sun, Xian Fu, Chuan Wang, Hong Liu, Furen Zhang
SHORT COMMUNICATION - Volume 100, Issue 17 2020
Novel TGM1 Gene Mutation in a Japanese Patient with Bathing Suit Ichthyosis
Naomi Tani, Nanako Yamada, Tetsuya Okazaki, Takashi Horie, Hajime Nakano, Daisuke Sawamura, Osamu Yamamoto
INVESTIGATIVE REPORT - Volume 100, Issue 16 2020
Apparent Missense Variant in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing
Syed Ashraf Uddin, Nicole Cesarato, Aytaj Humbatova, Axel Schmidt, Fazal ur Rehman, Muhammad Naeem, Abdul Samad Tareen, Sabrina Wolf, Muhammad Anwar Panezai, Holger Thiele, Abdul Wali, Regina Fölster-Holst, Sulman Basit, Muhammad Ayub, Regina C. Betz
SHORT COMMUNICATION - Volume 100, Issue 16 2020
Clinical Remission of Loricrin Keratoderma with Tamoxifen: A Case Report
Elena Fontana, Francesca Caroppo, Anna Belloni Fortina
SHORT COMMUNICATION - Volume 100, Issue 15 2020
Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex
Wei-Ting Tu, Peng-Chieh Chen, Ping-Chen Hou, Hsin-Yu Huang, Jing-Yu Wang, Sheau-Chiou Chao, Julia Yu-Yun Lee, John A. McGrath, Ken Natsuga, Chao-Kai Hsu
SHORT COMMUNICATION - Volume 100, Issue 15 2020
Gene Mutation Mapping in a Fatal Case of Phacomatosis Pigmentokeratotica Happle
Kinan Hayani, Kathrin Giehl, Jörg Kumbrink, Judith Fischer, Max Schlaak, Lars E. French, Andreas Wollenberg
QUIZ - Volume 100, Issue 14 2020
Congenital Hair Anomaly in Association with Hypodontia of Permanent Teeth: A Quiz
Karola Maria Stieler, Theodosia Bartzela, Christian Finke, Ulrike Blume-Peytavi, Judith Fischer
SHORT COMMUNICATION - Volume 100, Issue 14 2020
An Aggressive Clinical Presentation of Familial Leiomyomatosis Associated with a Fumarate Hydratase Gene Variant of Uncertain Clinical Significance
Federica Scarfi, Ana Paula Orozco, Alessia Visconti, Veronique Bataille
SHORT COMMUNICATION - Volume 100, Issue 14 2020
Recurrent KRT10 Variant in Ichthyosis with Confetti
Takuya Takeichi, Yasushi Suga, Takashi Mizuno, Yusuke Okuno, Daisuke Ichikawa, Michihiro Kono, John Y.W. Lee, John A. McGrath, Masashi Akiyama
QUIZ - Volume 100, Issue 14 2020
Orange Verrucous Pitted Lesion on Lateral Foot of a 9-year-old Girl: A Quiz
Julia K. Winkler, Holger A. Haenssle, Alexander Enk, Ferdinand Toberer
SHORT COMMUNICATION - Volume 100, Issue 13 2020
Novel CLDN1 Deletion Associated with Ichthyosis, Sclerosing Cholangitis and Acquired Alopecia
Maleha S. Alsafri, Fabienne Charbit-Henrion, Florence Lacaille, Emmanuelle Bourrat, Julie Steffann, Smail Hadj-Rabia
SHORT COMMUNICATION - Volume 100, Issue 10 2020
New Approach to Paediatric Mastocytosis: Implications of KIT D816V Mutation Detection in Peripheral Blood
Justyna Czarny, Monika Żuk, Anton Zawrocki, Katarzyna Plata-Nazar, Wojciech Biernat, Marek Niedoszytko, Hanna Ługowska-Umer, Bogusław Nedoszytko, Bartosz Wasąg, Roman J. Nowicki, Magdalena Lange
QUIZ - Volume 100, Issue 8 2020
Linear Blisters in a Young Girl: A Quiz
Weilong Zhong, Xingling Jian, Shangzhi Dai, Xuejun Zhu, Zhimiao Lin, Bo Yu
CLINICAL REPORT - Volume 100, Issue 8 2020
Short-term Effect and Acceptability of Manual Lymphatic Drainage for Paediatric Limb Lymphoedema: A Prospective Study
Chakib El Habnouni, Valérie Tauveron, Sophie Leducq, Stéfania Gérémia, Pierre Allain, Hortense Touchard, Sophie-Anne Benejean, Laurent Machet, Annabel Maruani
SHORT COMMUNICATION - Volume 100, Issue 8 2020
Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome
Shatha Albluwi, Aude Maza, Maella Severino-Freire, Emilie Tournier, Juliette Mazereeuw-Hautier
REVIEW - Volume 100, Issue 7 2020
Ichthyosis: A Road Model for Skin Research
Anders Vahlquist, Hans Törmä
REVIEW - Volume 100, Issue 7 2020
Genetics of Inherited Ichthyoses and Related Diseases
Judith Fischer, Emmanuelle Bourrat
REVIEW - Volume 100, Issue 7 2020
Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Jouni Uitto, Leila Youssefian, Amir Hossein Saeidian, Hassan Vahidnezhad
REVIEW - Volume 100, Issue 7 2020
Diagnosis and Management of Inherited Palmoplantar Keratodermas
Bjorn R. Thomas, Edel A. O'Toole
REVIEW - Volume 100, Issue 7 2020
Legius Syndrome and its Relationship with Neurofibromatosis Type 1
Ellen Denayer, Eric Legius
REVIEW - Volume 100, Issue 7 2020
Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review
Ines Kapferer-Seebacher, Dagmar Schnabl, Johannes Zschocke, F. Michael Pope
REVIEW - Volume 100, Issue 7 2020
Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms
Hanna Bonnekoh, Monique Butze, Tilmann Kallinich, Naotomo Kambe, Georgios Kokolakis, Karoline Krause
REVIEW - Volume 100, Issue 7 2020
An Early Description of a “Human Mosaic” Involving the Skin: A Story from 1945
Rudolf Happle
QUIZ - Volume 100, Issue 4 2020
A Family with Palmar and Plantar Hyperkeratosis: A Quiz
Hazem A. Juratli, Sabine Jägle, Rudolf Happle, Pinar Avci, Dario Didona, Judith Fischer
SHORT COMMUNICATION - Volume 100, Issue 4 2020
Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma
Liisa Harjama, Kaisa Kettunen, Outi Elomaa, Elisabet Einarsdottir, Hannele Heikkilä, Sirpa Kivirikko, Katriina Lappalainen, Janna Saarela, Caroline Alby, Annamari Ranki, Juha Kere, Smail Hadj-Rabia, Katariina Hannula-Jouppi
SHORT COMMUNICATION - Volume 100, Issue 1 2020
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers
Giuseppe Marangi, Simone Garcovich, Gabriele Di Sante, Daniela Orteschi, Silvia Frangella, Franco Scaldaferri, Maurizio Genuardi, Ketty Peris, Fiorella Gurrieri, Marcella Zollino
REVIEW - Volume 100, Issue 1 2020
Hereditary Leiomyomatosis and Renal Cell Cancer
Anders Würgler Hansen, Zahràa Chayed, Kristine Pallesen, Ileana Codruta Vasilescu, Anette Bygum
SHORT COMMUNICATION - Volume 100, Issue 4 2020
Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis
Juliette Mazereeuw-Hautier, Maella Severino-Freire, Véronique Gaston, Hélène Texier, Marie Vincent, Hélène Aubert, Fanny Morice-Picard, Nathalie Jonca
SHORT COMMUNICATION - Volume 100, Issue 4 2020
Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis
Juliette Mazereeuw-Hautier, Maella Severino-Freire, Véronique Gaston, Hélène Texier, Marie Vincent, Hélène Aubert, Fanny Morice-Picard, Nathalie Jonca
SHORT COMMUNICATION - Volume 100, Issue 8 2020
Oculoectodermal Syndrome – Encephalocraniocutaneous Lipomatosis Associated with NRAS Mutation
Renée J.H. Richters, Marieke M.B. Seyger, Kim A.P. Meeuwis, Tuula Rinne, Astrid Eijkelenboom, Michèl A. Willemsen
QUIZ - Volume 99, Issue 13 2019
Generalized Skin Scaling in a Young Girl: A Quiz
Ran Mo, Huijun Wang, Zhimiao Lin
QUIZ - Volume 100, Issue 1 2020
Uncountable Skin Lesions in a Mentally Disabled Patient: A Quiz
Iwona Chlebicka, Aleksandra Stefaniak, Karolina Wójcicka, Jacek C. Szepietowski
SHORT COMMUNICATION - Volume 99, Issue 13 2019
A Case of Malignant Melanoma Arising in Nagashima-type Palmoplantar Keratosis
Sho Katayama, Toshifumi Nomura, Masae Takeda, Toshinari Miyauchi, Shotaro Suzuki, Jin Teng Peh, Takuma Nohara, Shinya Kitamura, Hiroo Hata, Hiroshi Shimizu
SHORT COMMUNICATION - Volume 100, Issue 1 2020
Ulceration in Prolidase Deficiency: Successful Treatment with Anticoagulants
Kira Süßmuth, Dieter Metze, Ana-Maria Muresan, Kai Lehmberg, Udo zur Stadt, Carsten Speckmann, Julien Heinrich Park, Thorsten Marquardt, Vinzenz Oji, Tobias Goerge
CLINICAL REPORT - Volume 99, Issue 12 2019
Electron Microscopic and Immunohistochemical Findings of the Epidermal Basement Membrane in Two Families with Nail-patella Syndrome
Satoru Shinkuma, Hideki Nakamura, Manami Maehara, Shota Takashima, Toshifumi Nomura, Yasuyuki Fujita, Satoshi Hasegawa, Kazuko C. Sato-Matsumura, Riichiro Abe, Hiroshi Shimizu
SHORT COMMUNICATION - Volume 99, Issue 13 2019
Novel PLEC Variant Causes Mild Skin Fragility, Pyloric Atresia, Muscular Dystrophy and Urological Manifestations
Manthoula Valari, Martha Theodoraki, Ierotheos Loukas, Sylvia Gkantseva-Patsoura, Georgia Karavana, Vasiliki Falaina, Lilia Lykopoulou, Roser Pons, Ioannis Athanasiou, Katarzyna Wertheim-Tysarowska, Christina Kanaka-Gantenbein, Dimitra Kiritsi
SHORT COMMUNICATION - Volume 100, Issue 1 2020
Uniparental Disomy of Chromosome 2 Unmasks New ITGA6 Recessive Mutation and Results in a Lethal Junctional Epidermolysis Bullosa in a Newborn
Rebecca Higgins, Annika N. Jensen, Julian Wachstein, Leena Bruckner-Tuderman, Roland Spiegel, Hubert Traber, Josef Achermann, Martin Schaller, Birgit Fehrenbacher, Martin Röcken, Desislava Ignatova, Yun-Tsan Chang, Tina Fischer, Agnes E. Schwieger-Briel, Lars E. French, Wolfram Hoetzenecker, René Hornung, Andreas Malzacher, Antonio Cozzio, Alexander Navarini, Cristina Has, Emmanuella Guenova
SHORT COMMUNICATION - Volume 99, Issue 12 2019
Dominant Dystrophic Epidermolysis Bullosa Pruriginosa Responding to Naltrexone Treatment
Kristine A.U. Pallesen, Kim H. Lindahl, Anette Bygum
SHORT COMMUNICATION - Volume 99, Issue 12 2019
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene
Liliana Guerra, Fabio Bergamo, Maria Rosaria D'Apice, Francesco Angelucci, Stefano Di Girolamo, Letizia Camerota, Rosanna Monetta, Giorgio Annessi, Daniele Castiglia, Giuseppe Novelli, Mauro Paradisi, Francesco Brancati
QUIZ - Volume 99, Issue 11 2019
Generalized Pruritic Flat Papules in Two Patients: A Quiz
Jia-Qi Lv, Yue-Ping Zeng, Tao Qu
SHORT COMMUNICATION - Volume 99, Issue 13 2019
Oculodentodigital Dysplasia Diagnosed from Severe Hypotrichosis
Tomoki Taki, Takuya Takeichi, Kazumitsu Sugiura, Masashi Akiyama
CLINICAL REPORT - Volume 99, Issue 12 2019
Efficacy and Tolerance of Sirolimus (Rapamycin) for Extracranial Arteriovenous Malformations in Children and Adults
Romain Gabeff, Olivia Boccara, Véronique Soupre, Gérard Lorette, Christine Bodemer, Denis Herbreteau, Elsa Tavernier, Annabel Maruani
SHORT COMMUNICATION - Volume 99, Issue 11 2019
BAP1 Tumour Predisposition Syndrome: A New Mutation in One Family
Francesca Satolli, Maria Beatrice de Felici del Giudice, Mariabeatrice Bertolani, Roberto Ricci, Torello Lotti, Alfredo Zucchi, Claudio Feliciani
INVESTIGATIVE REPORT - Volume 99, Issue 10 2019
Novel and Recurrent PNPLA1 Mutations in Spanish Patients with Autosomal Recessive Congenital Ichthyosis; Evidence of a Founder Effect
Uxia Esperón-Moldes, Manuel Ginarte Val, Laura Rodríguez-Pazos, Laura Fachal, José Manuel Azaña, María Barberá Fons, Mónica Viejo Diaz, Ana Vega
SHORT COMMUNICATION - Volume 99, Issue 10 2019
Blau Syndrome: Report of a Rare Entity with Congenital Ostium Secundum Atrial Septal Defect in a 7-year-old Chinese Girl
Xian-hong Yang, Lin Lin, Jian-fang Sun, Yi-qun Jiang
SHORT COMMUNICATION - Volume 99, Issue 10 2019
Keratitis-Ichthyosis-Deafness Syndrome: Early Death Caused by the GJB2 Mutation p.Gly12Arg
Clothilde Godillot, Maella Severino-Freire, Vincent Michaud, Franck Boralevi, Christine Labrèze, Vincent Guigonis, Giuliana Onnis, Fanny Morice-Picard, Juliette Mazereeuw-Hautier
SHORT COMMUNICATION - Volume 99, Issue 9 2019
Palmoplantar Keratoderma and Woolly Hair Revealing Asymptomatic Arrhythmogenic Cardiomyopathy
Liliana Guerra, Monia Magliozzi, Anwar Baban, Corrado Di Mambro, Giovanni Di Zenzo, Antonio Novelli, May El Hachem, Giovanna Zambruno, Daniele Castiglia
CLINICAL REPORT - Volume 99, Issue 9 2019
Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions
Svetlana Vakkilainen, Laura Puhakka, Paula Klemetti, Kaarina Heiskanen, Mikko Seppänen, Mikko Muona, Celine Posseme, Darragh Duffy, Timo Väisänen, Outi Elomaa, Maarit Palomäki, Harri Saxén, Annamari Ranki, Katariina Hannula-Jouppi
QUIZ - Volume 99, Issue 7 2019
Vulvar Dyschromia in a Child: A Quiz
Caroline de Lorenzi, Gürkan Kaya, Sandrine Quenan, Anne-Marie Calza
SHORT COMMUNICATION - Volume 99, Issue 7 2019
Whole Exome Sequencing Identified a Novel Mutation of the RHBDF2 Gene in a Chinese Family of Tylosis with Esophageal Cancer
Le Qu, Sha Sha, Qian-Lei Zou, Xing-Hua Gao, Ting Xiao, Hong-Dou Chen, Chundi Chun He
SHORT COMMUNICATION - Volume 99, Issue 7 2019
Mutation in FAM111B Causes Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
Fuying Chen, Luyao Zheng, Yue Li, Huaguo Li, Zhirong Yao, Ming Li
REVIEW - Volume 99, Issue 7 2019
Erythropoietic Protoporphyria in a Japanese Population
Megumi Mizawa, Teruhiko Makino, Hajime Nakano, Daisuke Sawamura, Tadamichi Shimizu
SHORT COMMUNICATION - Volume 99, Issue 7 2019
Hyper IgE Syndrome with Large Recurrent Head Abscesses Misdiagnosed as Folliculitis
Puyu Zou, Rui Tang, Pan Chen, Xiangning Qiu, Guiying Zhang, Yi Zhan, Rong Xiao
CLINICAL REPORT - Volume 99, Issue 9 2019
Impact of Painful Wound Care in Epidermolysis Bullosa During Childhood: An Interview Study with Adult Patients and Parents
Petra Mauritz, Marcel F. Jonkman, Sanne S. Visser, Catrin Finkenauer, José C. Duipmans, Mariët Hagedoorn
QUIZ - Volume 99, Issue 6 2019
Stable Firm Pink Papules on a Woman in her 60s: A Quiz
Catherine Baker, Katherine R. Lee, Anh Khoa Pham, Robert E. LeBlanc, Joi B. Carter
SHORT COMMUNICATION - Volume 99, Issue 9 2019
Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene
Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Maria Margollicci, Renata Boldrini, Viola Alesi, Antonio Novelli, Giovanna Zambruno, May El Hachem
QUIZ - Volume 99, Issue 6 2019
Ulcers and Scars on the Trunk of a 20-month-old Boy: A Quiz
Tal Goldberger, Alexander Maly, Tamar Harel, Vered Molho-Pessach
SHORT COMMUNICATION - Volume 99, Issue 4 2019
A Silent COL17A1 Variant Alters Splicing and Causes Junctional Epidermolysis Bullosa
Julia Hoffmann, Federica Casetti, Antonia Reimer, Juna Leppert, Gabriele Grüninger, Cristina Has
QUIZ - Volume 99, Issue 6 2019
Vascular Mass of the Scalp in a Newborn: A Quiz
Afi-Emiliène Edee, Matthias Tallegas, Anne Jourdain, Antoine Listrat, Baptiste Morel, Annabel Maruani
REVIEW - Volume 99, Issue 4 2019
Skin Cancer Associated Genodermatoses: A Literature Review
Juliane Schierbeck, Tine Vestergaard, Anette Bygum
SHORT COMMUNICATION - Volume 99, Issue 4 2019
A Japanese Case of Galli-Galli Disease due to a Previously Unreported POGLUT1 Mutation
Michihiro Kono, Masaki Sawada, Yuka Nakazawa, Tomoo Ogi, Yoshinao Muro, Masashi Akiyama
QUIZ - Volume 99, Issue 3 2019
Painless Horny Keratotic Spines on the Palms: A Quiz
Caroline de Lorenzi, Gürkan Kaya, Sandrine Quenan
SHORT COMMUNICATION - Volume 99, Issue 3 2019
Allogeneic Haematopoietic Cell Transplantation for Epidermolysis Bullosa: the Dutch Experience
Katarzyna B. Gostyńska, Vamsi K. Yenamandra, Caroline Lindemans, José Duipmans, Antoni Gostyński, Marcel F. Jonkman, Jaap-Jan Boelens
SHORT COMMUNICATION - Volume 99, Issue 3 2019
A Case of Aplasia Cutis Congenita with Widespread Multifocal Skin Defects Without Extracutaneous Abnormalities
Jemin Kim, Jihee Kim, Myeongseob Lee, Eui Ra Huh, Joohee Lim, Kook In Park, Sang Ho Oh
SHORT COMMUNICATION - Volume 99, Issue 3 2019
Tazarotene 0.015% Cream as a Potential Topical Agent for Management of Ichthyosis in Dorfman-Chanarin Syndrome
Luana Niculescu, Cristel Ruini, Jerome Srour, Suzanna Salzer, Ines Schönbuchner, Tanja von Braunmühl, Thomas Ruzicka, Ulrich Hohenleutner, Kathrin A. Giehl, Judith Fischer, Andreas Wollenberg
SHORT COMMUNICATION - Volume 99, Issue 2 2019
Skin Lesions Suggesting Type 2 Segmental Mosaicism in Noonan Syndrome
Rudolf Happle
SHORT COMMUNICATION - Volume 99, Issue 1 2019
Schöpf-Schulz-Passarge Syndrome: Previously Unreported WNT10A Genotype and Phenotypes in 9 Family Members
Corinna E. Zimmermann, Muhidien Soufi, Volker Ruppert, Juergen R. Schaefer, Helmut von Domarus
SHORT COMMUNICATION - Volume 99, Issue 2 2019
Phenotypic Features of Epidermolysis Bullosa Simplex due to KLHL24 Mutations in 3 Italian Cases
May El Hachem, Sabina Barresi, Andrea Diociaiuti, Renata Boldrini, Angelo Giuseppe Condorelli, Ettore Capoluongo, Vittoria Proto, Giulietta Scuvera, Cristina Has, Marco Tartaglia, Daniele Castiglia
SHORT COMMUNICATION - Volume 99, Issue 1 2019
Two Novel Mutations in the ERCC8 Gene in a Patient with Ultraviolet-sensitive Syndrome
Yue Li, Luyao Zheng, Fuying Chen, Zhirong Yao, Ming Li
SHORT COMMUNICATION - Volume 99, Issue 1 2019
A Postzygotic ATP2A2 Novel Mutation Identified by Next-generation Sequencing in Mosaic Darier Disease
Liliana Guerra, Cristina Pedicelli, Vittoria Proto, Angelo Giuseppe Condorelli, Cinzia Mazzanti, Daniele Castiglia
SHORT COMMUNICATION - Volume 99, Issue 1 2019
A Case of Ankyloblepharon-ectodermal Defects-cleft Lip/Palate-syndrome with Choanal Atresia and Skin Erosions: Phenotypic Variability of TP63-related Disorders
Luana Niculescu, Matias Wagner, Dominik S. Westphal, Marcus Fischer, Walter Mihatsch, Anke Prothmann, Thomas Ruzicka, Andreas Wollenberg, Hans Wolff, Heinrich Schmidt, Kathrin A. Giehl
SHORT COMMUNICATION - Volume 98, Issue 9 2018
Premature Aging Syndrome, Penttinen Type: Report of a Chinese Case with a PDGFRB Mutation
Zhiyong Zhang, Shuguang Zheng, Song Zheng, Yanyan Wang, Xue-Gang Xu, Xing-Hua Gao, Hong-Duo Chen
SHORT COMMUNICATION - Volume 98, Issue 9 2018
Squamous Cell Carcinoma and Multiple Familial Trichoepitheliomas: A Recurrent Association
Anna Dubois, Tiago Mestre, Thomas Oliphant, Akhtar Husain, Neil Rajan
SHORT COMMUNICATION - Volume 98, Issue 8 2018
Desmoglein 4 Mutation Underlies Autosomal Recessive Keratosis Pilaris Atrophicans
Eran Cohen-Barak, Nada Danial-Farran, Helwa Hammad, Ola Aleme, Judith Krauz, Ester Gavish, Morad Khayat, Michael Ziv, Stavit Shalev
QUIZ - Volume 98, Issue 8 2018
Erythematous Papular Lesions on the Neck: A Quiz
Alice Mouchard, Matthias Tallegas, Marie-Christine Machet, Laurent Machet, Hélène Cornillier
SHORT COMMUNICATION - Volume 98, Issue 8 2018
Restrictive Dermopathy: Four Case Reports and Structural Skin Changes
Mona Bidier, Mareen Salz, Jochen Meyburg, Adelheid Elbe-Bürger, Felix Lasitzschka, Ingrid Hausser, Knut Schäkel
QUIZ - Volume 98, Issue 8 2018
Blisters, Sores and Scars on the Dorsal Hands in a 17-year-old Girl: A Quiz
Anna Trier Heiberg Brix, Anne Lindegaard Christensen, Anette Bygum
SHORT COMMUNICATION - Volume 98, Issue 8 2018
Ichthyosis Prematurity Syndrome due to a Novel SLC27A4 Homozygous Mutation in an Italian Patient
Andrea Diociaiuti, Enrico Rosati, Maria Giovanna Paglietti, Paola Vacca, Renata Boldrini, Elisa Pisaneschi, Daniele Castiglia, Antonio Novelli, Maya El Hachem
SHORT COMMUNICATION - Volume 98, Issue 8 2018
Psoriasis-like Dermatitis in Adulthood: A Skin Manifestation of Holocarboxylase Synthetase Deficiency
Daisuke Watabe, Ayano Watanabe, Toshihide Akasaka, Osamu Sakamoto, Hiroo Amano
SHORT COMMUNICATION - Volume 98, Issue 7 2018
Successful Multidisciplinary Treatment of Chronic Facial Wounds in Junctional Epidermolysis Bullosa
Antonia Reimer, Roland Laszig, Jens Pfeiffer, Philipp Eberwein, Hans Mittelviefhaus, Leena Bruckner-Tuderman, Cristina Has
INVESTIGATIVE REPORT - Volume 98, Issue 9 2018
Genotype–Phenotype Correlations of Dystrophic Epidermolysis Bullosa in India: Experience from a Tertiary Care Centre
Vamsi K. Yenamandra, Shamsudheen K. Vellarikkal, Madhumita R. Chowdhury, Rijith Jayarajan, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu, Subrata Basu Ray, Amit K. Dinda, Madhulika Kabra, Vinod K. Sharma, Gomathy Sethuraman
CORRESPONDENCE - Volume 98, Issue 5 2018
RASA1 Variants in Capillary Malformations of Children: A Comment to Maruani A et al.
Rudolf Happle
CLINICAL REPORT - Volume 98, Issue 5 2018
Characteristics of Familial Melanoma in Valencia, Spain, Based on the Presence of CDKN2A Mutations and MC1R Variants
Claudia Huerta, Zaida Garcia-Casado, José Bañuls, Manuel Moragon, Vicente Oliver, Blanca Unamuno, Celia Requena, Rajiv Kumar, Eduardo Nagore
SHORT COMMUNICATION - Volume 98, Issue 5 2018
A Postzygotic SMO Mutation Caused the Original Case of Happle–Tinschert Syndrome
Martin Zenker, Sigrid Tinschert, Ilse Wieland, Denny Schanze, Rudolf Happle
INVESTIGATIVE REPORT - Volume 98, Issue 4 2018
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis
Cristina Has, Julia Küsel, Antonia Reimer, Julia Hoffmann, Franziska Schauer, Andreas Zimmer, Judith Fischer
CLINICAL REPORT - Volume 98, Issue 4 2018
Epidermolysis Bullosa (EB) Acquisita in an Adult Patient with Previously Unrecognized Mild Dystrophic EB and Biallelic COL7A1 Mutations
Liliana Guerra, Angelo Giuseppe Condorelli, Paola Fortugno, Valentina Calabresi, Cristina Pedicelli, Giovanni Di Zenzo, Daniele Castiglia
INVESTIGATIVE REPORT - Volume 98, Issue 2 2018
Search for RASA1 Variants in Capillary Malformations of the Legs in 113 Children: Results from the French National Paediatric Cohort CONAPE
Annabel Maruani, Marine Durieux-Verde, Juliette Mazereeuw-Hautier, Olivia Boccara, Ludovic Martin, Christine Chiaverini, Catherine Eschard, Nathalie Bénéton, Pierre Vabres, Xavier Balguerie, Patrice Plantin, Didier Bessis, Sébastien Barbarot, Ali Dadban, Catherine Droitcourt, Aline Berthelot, Gérard Lorette, Sophie Leducq, Mahtab Samimi, Christian Andres, Agnès Caille, Patrick Vourc'h;, Groupe de Recherche de la Société Française de Dermatologie
CLINICAL REPORT - Volume 98, Issue 3 2018
Pain Quality Assessment Scale for Epidermolysis Bullosa
Nicholas H.B. Schräder, Wing Y. Yuen, Marcel F. Jonkman
SHORT COMMUNICATION - Volume 98, Issue 2 2018
9q22.3 Microdeletion Syndrome with Multiple Basal Cell Carcinomas Treated with Vismodegib: Three Key Messages in One Patient
Alice Kieny, Valérie Kremer, Sophie Scheidecker, Dan Lipsker
CLINICAL REPORT - Volume 98, Issue 1 2018
Epidemiology and Outcome of Squamous Cell Carcinoma in Epidermolysis Bullosa in Australia and New Zealand
Minhee Kim, Minmin Li, Lizbeth R.A. Intong-Wheeler, Kim Tran, Damian Marucci, Dedee F. Murrell
CLINICAL REPORT - Volume 98, Issue 1 2018
Epidemiology and Outcome of Squamous Cell Carcinoma in Epidermolysis Bullosa in Australia and New Zealand
Minhee Kim, Minmin Li, Lizbeth R.A. Intong-Wheeler, Kim Tran, Damian Marucci, Dedee F. Murrell
SHORT COMMUNICATION - Volume 98, Issue 1 2018
Ichthyosis with Confetti Inherited from a Mosaic Father
Kristine A.U. Pallesen, Ole Clemmensen, Judith Fischer, Jens Michael Hertz, Anette Bygum
SHORT COMMUNICATION - Volume 98, Issue 1 2018
Ichthyosis with Confetti Inherited from a Mosaic Father
Kristine A.U. Pallesen, Ole Clemmensen, Judith Fischer, Jens Michael Hertz, Anette Bygum
QUIZ - Volume 98, Issue 1 2018
Dome-shaped Papules on the Left Flank: A Quiz
Sophie Roenneberg, Ivan Hegyi, Werner Kempf, Katrin Kerl, Emmanuella Guenova
QUIZ - Volume 98, Issue 1 2018
Dome-shaped Papules on the Left Flank: A Quiz
Sophie Roenneberg, Ivan Hegyi, Werner Kempf, Katrin Kerl, Emmanuella Guenova
SHORT COMMUNICATION - Volume 97, Issue 10 2017
Lipoid Proteinosis: A Previously Unrecognized Mutation and Therapeutic Response to Acitretin
Claudia Carnevale, Daniele Castiglia, Andrea Diociaiuti, Vittoria Proto, Simona Giancristoforo, Renata Boldrini, Giovanna Zambruno, Maya El Hachem
QUIZ - Volume 97, Issue 10 2017
A Large Skin-colored Nodule on the Plantar Foot: A Quiz
Nathan W. Rojek, Veselina Korcheva, Sancy A. Leachman
CLINICAL REPORT - Volume 97, Issue 9 2017
A Review of 52 Pedigrees with Epidermolysis Bullosa Simplex Identifying Ten Novel Mutations in KRT5 and KRT14 in Australia
Emma N. Kim, Adam G. Harris, Linda J. Bingham, Wenfei Yan, John C. Su, Dedee F. Murrell
SHORT COMMUNICATION - Volume 97, Issue 8 2017
Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
Xue-Gang Xu, Yuan Lv, Hongwei Yan, Le Qu, Ting Xiao, Long Geng, Chun-Di He, Cai-Xia Liu, Xing-Hua Gao, Yuan-Hong Li, Hong-Duo Chen
SHORT COMMUNICATION - Volume 97, Issue 8 2017
Skin Ultrastructural Findings in Acquired Generalized Hypohidrosis/Anhidrosis in a Patient with Subclinical Sjögren Syndrome
Yu-Jen Huang, Pei-Ling Chih, Tzu-Hung Huang, Hsin-Su Yu, Yu-Lin Hsieh, Sebastian Yu
SHORT COMMUNICATION - Volume 97, Issue 7 2017
Heterozygous PDGFRB Mutation in a Three-generation Family with Autosomal Dominant Infantile Myofibromatosis
Clemence Lepelletier, Yasser Al-Sarraj, Christine Bodemer, Hibbah Shaath, Sylvie Fraitag, Marios Kambouris, Dominique Hamel-Teillac, Hatem El Shanti, Smail Hadj-Rabia
SHORT COMMUNICATION - Volume 97, Issue 7 2017
Mosaic Focal Dermal Hypoplasia (Goltz Syndrome) in Two Female Patients
Maella Severino-Freire, Aude Maza, Maria Paola Lombardi, Emilie Tournier, Nicolas Chassaing, Juliette Mazereeuw-Hautier
QUIZ - Volume 97, Issue 5 2017
Symmetrical Keratotic Papules on the Hands: A Quiz
Magdalena Zychowska, Aleksandra Batycka-Baran, Zdzisław Woźniak, Anita Hryncewicz-Gwóźdź, Wojciech Baran
QUIZ - Volume 97, Issue 5 2017
Symmetrical Keratotic Papules on the Hands: A Quiz
Magdalena Zychowska, Aleksandra Batycka-Baran, Zdzisław Woźniak, Anita Hryncewicz-Gwóźdź, Wojciech Baran
SHORT COMMUNICATION - Volume 97, Issue 5 2017
Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex
Yinghong He, Juna Leppert, Holger Steinke, Cristina Has
SHORT COMMUNICATION - Volume 97, Issue 5 2017
Homozygous Nonsense Mutation and Additional Deletion of an Amino Acid in BPAG1e Causing Mild Localized Epidermolysis Bullosa Simplex
Yinghong He, Juna Leppert, Holger Steinke, Cristina Has
CLINICAL REPORT - Volume 97, Issue 4 2017
Becker Naevus Syndrome of the Lower Body: One Case and Review of the Literature
Kristina Schäfer, Boris Bauer, Julian Donhauser, Andreas Kerstan, Henning Hamm
CLINICAL REPORT - Volume 97, Issue 4 2017
Becker Naevus Syndrome of the Lower Body: One Case and Review of the Literature
Kristina Schäfer, Boris Bauer, Julian Donhauser, Andreas Kerstan, Henning Hamm
SHORT COMMUNICATION - Volume 97, Issue 4 2017
A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines
Jianbo Wang, Jia Zhang, Xueli Li, Zhexin Wang, Dongchun Lei, Guofang Wang, Jianguo Li, Shoumin Zhang, Zhenlu Li, Ming Li
SHORT COMMUNICATION - Volume 97, Issue 4 2017
A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines
Jianbo Wang, Jia Zhang, Xueli Li, Zhexin Wang, Dongchun Lei, Guofang Wang, Jianguo Li, Shoumin Zhang, Zhenlu Li, Ming Li
SHORT COMMUNICATION - Volume 97, Issue 3 2017
Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation
Didier Bessis, Julie Plaisancié, Véronique Gaston, Eric Bieth
SHORT COMMUNICATION - Volume 97, Issue 3 2017
Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation
Didier Bessis, Julie Plaisancié, Véronique Gaston, Eric Bieth
SHORT COMMUNICATION - Volume 97, Issue 3 2017
Fibroblast Growth Factor Receptor 3 Epidermal Naevus Syndrome with Urothelial Mosaicism for the Activating p.Ser249Cys FGFR3 Mutation
Didier Bessis, Julie Plaisancié, Véronique Gaston, Eric Bieth
SHORT COMMUNICATION - Volume 97, Issue 3 2017
Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7
Ryo Fukaura, Takuya Takeichi, Yusuke Okuno, Daiei Kojima, Michihiro Kono, Kazumitsu Sugiura, Yasushi Suga, Masashi Akiyama
SHORT COMMUNICATION - Volume 97, Issue 3 2017
Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7
Ryo Fukaura, Takuya Takeichi, Yusuke Okuno, Daiei Kojima, Michihiro Kono, Kazumitsu Sugiura, Yasushi Suga, Masashi Akiyama
SHORT COMMUNICATION - Volume 97, Issue 3 2017
Striate Palmoplantar Keratoderma Showing Transgrediens in a Patient Harbouring Heterozygous Nonsense Mutations in Both DSG1 and SERPINB7
Ryo Fukaura, Takuya Takeichi, Yusuke Okuno, Daiei Kojima, Michihiro Kono, Kazumitsu Sugiura, Yasushi Suga, Masashi Akiyama
SHORT COMMUNICATION - Volume 97, Issue 3 2017
A Japanese Case of Ichthyosiform Erythroderma with a Novel Mutation in NIPAL4/Ichthyin
Minori Kusakabe, Makoto Nagai, Eiji Nakano, Orie Jitsukawa, Chikako Nishigori, Kiyofumi Yamanishi
SHORT COMMUNICATION - Volume 97, Issue 3 2017
A Japanese Case of Ichthyosiform Erythroderma with a Novel Mutation in NIPAL4/Ichthyin
Minori Kusakabe, Makoto Nagai, Eiji Nakano, Orie Jitsukawa, Chikako Nishigori, Kiyofumi Yamanishi
SHORT COMMUNICATION - Volume 97, Issue 3 2017
A Japanese Case of Ichthyosiform Erythroderma with a Novel Mutation in NIPAL4/Ichthyin
Minori Kusakabe, Makoto Nagai, Eiji Nakano, Orie Jitsukawa, Chikako Nishigori, Kiyofumi Yamanishi
SHORT COMMUNICATION - Volume 97, Issue 4 2017
Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation
Takuya Takeichi, Yusuke Okuno, Chiyo Saito, Daiei Kojima, Michihiro Kono, Akimichi Morita, Kazumitsu Sugiura, Masashi Akiyama
SHORT COMMUNICATION - Volume 97, Issue 4 2017
Congenital Ichthyosis and Recurrent Eczema Associated with a Novel ALOXE3 Mutation
Takuya Takeichi, Yusuke Okuno, Chiyo Saito, Daiei Kojima, Michihiro Kono, Akimichi Morita, Kazumitsu Sugiura, Masashi Akiyama
SHORT COMMUNICATION - Volume 97, Issue 3 2017
Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider­molytic Ichthyosis
Maella Severino-Freire, Nathalie Jonca, Melanie Pichery, Emilie Tournier, Nicolas Chassaing, Juliette Mazereeuw-Hautier
SHORT COMMUNICATION - Volume 97, Issue 3 2017
Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider­molytic Ichthyosis
Maella Severino-Freire, Nathalie Jonca, Melanie Pichery, Emilie Tournier, Nicolas Chassaing, Juliette Mazereeuw-Hautier
SHORT COMMUNICATION - Volume 97, Issue 3 2017
Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider­molytic Ichthyosis
Maella Severino-Freire, Nathalie Jonca, Melanie Pichery, Emilie Tournier, Nicolas Chassaing, Juliette Mazereeuw-Hautier
SHORT COMMUNICATION - Volume 97, Issue 2 2017
Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy
Constanza Echeverría, Alejandra Diaz, Bernardita Suarez, Jorge A. Bevilacqua, Carsten Bonnemann, Enrico Bertini, Claudia Castiglioni
SHORT COMMUNICATION - Volume 97, Issue 1 2017
Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis
Peter Kirchmeier, Andreas Zimmer, Bakar Bouadjar, Bernd Rösler, Judith Fischer
SHORT COMMUNICATION - Volume 97, Issue 2 2017
Melanotic Malignant Melanoma in Oculocutaneous Albinism Type 4
Saeko Ozaki, Yoko Funasaka, Yohei Otsuka, Satomi Oyama, Michiko Ito, Shin-ichi Osada, Takashi Ueno, Ken Okamura, Yutaka Hozumi, Tamio Suzuki, Seiji Kawana, Hidehisa Saeki
SHORT COMMUNICATION - Volume 97, Issue 1 2017
Diagnosis and Treatment of Blau Syndrome/Early-onset Sarcoidosis, an Autoinflammatory Granulomatous Disease, in an Infant
Kristian B. Arvesen, Troels Herlin, Dorthe A. Larsen, Uffe Koppelhus, Mette Ramsing, Anne-Bine Skytte, Mette Sommerlund
SHORT COMMUNICATION - Volume 97, Issue 1 2017
MEND Syndrome: A Case Report with Scanning Electron Microscopy Findings of the Collodion Membrane
Hiram de Almeida Jr, Cristina Has, Greice Rampon, Henrique Isaacsson, Luis Antonio Suita de Castro
SHORT COMMUNICATION - Volume 97, Issue 1 2017
Hyaline Fibromatosis Syndrome: A Novel Mutation and Recurrent Founder Mutation in the CMG2/ANTXR2 Gene
Leila Youssefian, Hassan Vahidnezhad, Yahya Aghighi, Vahid Ziaee, Sirous Zeinali, Maryam Abiri, Jouni Uitto
SHORT COMMUNICATION - Volume 97, Issue 1 2017
Darier Disease Complicated by Terbinafine-resistant Trichophyton rubrum: A Case Report
Sanna S. Wingfield Digby, Marianne Hald, Maiken C. Arendrup, Sofie V. Hjort, Kristian Kofoed
SHORT COMMUNICATION - Volume 97, Issue 1 2017
In-frame Exon Skipping in KRT5 due to Novel Intronic Deletion Causes Epidermolysis Bullosa Simplex, Generalized Severe
Katarzyna B. Gostyńska, Jeroen Bremer, Krista K. van Dijk-Bos, Richard Sinke, Anna Maria G. Pasmooij, Marcel F. Jonkman
SHORT COMMUNICATION - Volume 96, Issue 6 2016
Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder
Christelle Cabrol, Thierry Bienvenu, Lyse Ruaud, Emmanuelle Girodon, Gérald Noacco, Marine Delobeau, Ferial Fanian, Bénédicte Richaud-Thiriez, Lionel Van Maldergem, François Aubin
SHORT COMMUNICATION - Volume 96, Issue 6 2016
Extensive Erythema and Hyperkeratosis on the Extremities and Lumbar Area as an Unusual Mani-festation of Nagashima-type Palmoplantar Keratosis
Toshinari Miyauchi, Toshifumi Nomura, Shotaro Suzuki, Yuka Ohguchi, Yasuyuki Yamaguchi, Satoru Shinkuma, Ken Natsuga, Yasuyuki Fujita, Hiroshi Shimizu
SHORT COMMUNICATION - Volume 96, Issue 6 2016
A 45-year-old Woman with Ehlers-Danlos Syndrome Caused by Dermatan 4-O-sulfotransferase-1 Deficiency: Implications for Early Ageing
Michihiro Kono, Yoshie Hasegawa-Murakami, Kazumitsu Sugiura, Masashi Ono, Kazuhiro Toriyama, Noriko Miyake, Atsushi Hatamochi, Yuzuru Kamei, Tomoki Kosho, Masashi Akiyama
CLINICAL REPORT - Volume 96, Issue 6 2016
Frequent Occurrence of Aplasia Cutis Congenita in Bullous Dermolysis of the Newborn
Andrea Diociaiuti, Daniele Castiglia, Simona Giancristoforo, Liliana Guerra, Vittoria Proto, Andrea Dotta, Renata Boldrini, Giovanna Zambruno, Maya El Hachem
SHORT COMMUNICATION - Volume 96, Issue 6 2016
A Case of Syndromic X-linked Ichthyosis with Léri-Weill Dyschondrosteosis
Claire Abasq-Thomas, Sébastien Schmitt, Emilie Brenaut, Chantal Metz, Jean Chiesa, Laurent Misery
SHORT COMMUNICATION - Volume 96, Issue 4 2016
Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function
Takuya Takeichi, Kazumitsu Sugiura, Chao-Kai Hsu, Toshifumi Nomura, Hiroyuki Takama, Michael A. Simpson, Hiroshi Shimizu, John A. McGrath, Masashi Akiyama
INVESTIGATIVE REPORT - Volume 96, Issue 4 2016
Eight Novel Mutations Confirm the Role of AAGAB in Punctate Palmoplantar Keratoderma Type 1 (Buschke-Fischer-Brauer) and Show Broad Phenotypic Variability
Kathrin A. Giehl, Thomas Herzinger, Hans Wolff, Miklós Sárdy, Tanja von Braunmühl, Valérie Dekeuleneer, Yves Sznajer, Dominique Tennstedt, Pascaline Boes, Stefan Rapprich, Nicola Wagner, Regina C. Betz, Markus Braun-Falco, Tim Strom, Thomas Ruzicka, Gertrud N. Eckstein
INVESTIGATIVE REPORT - Volume 96, Issue 4 2016
Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis
Alrun Hotz, Vinzenz Oji, Emmanuelle Bourrat, Nathalie Jonca, Juliette Mazereeuw-Hautier, Regina C. Betz, Ulrike Blume-Peytavi, Karola Stieler, Fanny Morice-Picard, Ines Schönbuchner, Susanne Markus, Nina Schlipf, Judith Fischer
QUIZ - Volume 96, Issue 4 2016
Symmetrical, Hypopigmented Papules and Plaques on the Palms Induced by Contact with Water: A Quiz
Elena Marinello, Giovanna Dan, Dennis Michael Linder, Anna Belloni Fortina, Andrea Peserico, Stefano Piaserico
CLINICAL REPORT - Volume 96, Issue 4 2016
Hereditary Angioedema in Swedish Adults: Report From the National Cohort
Patrik Nordenfelt, Mats Nilsson, Janne Björkander, Lotus Mallbris, Anders Lindfors, Carl-Fredrik Wahlgren
SHORT COMMUNICATION - Volume 96, Issue 4 2016
Acute Edema Blisters on a Skin Swelling: An Unusual Manifestation of Hereditary Angioedema
José Fabiani, Konrad Bork
LETTER TO THE EDITOR - Volume 95, Issue 8 2015
Comment on Zhao et al. “Palmoplantar Keratoderma of the Gamborg-Nielsen Type is Caused by Mutations in the SLURP1 Gene and Represents a Variant of Mal de Meleda”
Ruud G.L. Nellen, Peter M. Steijlen, Michel van Geel, Maurice A.M. van Steensel
SHORT COMMUNICATION - Volume 96, Issue 1 2016
A Case of Noonan Syndrome with Multiple Subcutaneous Tumours with MAPK-ERK/p38 Activation
Tetsuya Honda, Tatsuki R. Kataoka, Chiyuki Ueshima, Yoshiki Miyachi, Kenji Kabashima
CLINICAL REPORT - Volume 96, Issue 1 2016
Kaposiform Haemangioendothelioma-spectrum Lesions with Kasabach-Merritt Phenomenon: Retrospective Analysis and Long-term Outcome
Olivia Boccara, Sylvie Fraitag, Dominique Lasne, Juliette Fontaine, Valérie Bughin, Dominique Hamel-Teillac, Daniel Orbach, Francis Brunelle, Yves de Prost, Smail Hadj-Rabia, Christine Bodemer
SHORT COMMUNICATION - Volume 96, Issue 1 2016
Epidermolysis Bullosa Pruriginosa Excoriée: A Deceptive Pruritic Variant in Two Female Patients
Katarzyna B. Gostyńska, Marcel F. Jonkman
SHORT COMMUNICATION - Volume 95, Issue 8 2015
H Syndrome: A Multifaceted Histiocytic Disorder with Hyperpigmentation and Hypertrichosis
Burak Tekin, Zeynep Atay, Tulin Ergun, Meryem Can, Davut Tuney, Sofia Babay, Serap Turan, Abdullah Bereket, Abraham Zlotogorski, Vered Molho-Pessach
SHORT COMMUNICATION - Volume 95, Issue 8 2015
Large Deletions in the NSDHL Gene in Two Patients with CHILD Syndrome
Zhou Yang, Britta Hartmann, Zhe Xu, Lin Ma, Rudolf Happle, Nina Schlipf, Li-xin Zhang, Zi-gang Xu, Zhao-yang Wang, Judith Fischer
SHORT COMMUNICATION - Volume 95, Issue 8 2015
Increased Expression of Caspase-1 and Interleukin-18 in Peeling Skin Disease, and a Novel Mutation of Corneodesmosin
Frederic Valentin, Vinzenz Oji, Ingrid Hausser, Eva Liebau, Tatjana Tarinski, Dieter Metze, Dirk Breitkreutz, Heiko Traupe, Nathalie Jonca, Patrick Terheyden
QUIZ - Volume 95, Issue 8 2015
Vesicles on the Breast Post-mastectomy: A Quiz
Jade Nicolette Chee, Mark Jean-Aan Koh
CLINICAL REPORT - Volume 95, Issue 8 2015
Pathogenesis of Multiple Lentigines in LEOPARD Syndrome with PTPN11 Gene Mutation
Sei-ichiro Motegi, Yoko Yokoyama, Sachiko Ogino, Kazuya Yamada, Akihiko Uchiyama, Buddhini Perera, Yuko Takeuchi, Hiroshi Ohnishi, Osamu Ishikawa
SHORT COMMUNICATION - Volume 95, Issue 8 2015
Effective Palliation of Intractable Bleeding from Noonan Syndrome-associated Lymphatic Malformations by Radiotherapy
Brian C. Baumann, Kelly M. MacArthur, Misha Rosenbach, Jean C. Miller, Edgar Ben-Josef
SHORT COMMUNICATION - Volume 95, Issue 8 2015
Familial Primary Localized Cutaneous Amyloidosis Results from Either Dominant or Recessive Mutations in OSMR
Abdul Wali, Lu Liu, Takuya Takeichi, Musharraf Jelani, Obaid Ur Rahman, Yee Kiat Heng, Steven Thng, Joyce Lee, Masashi Akiyama, John A. McGrath, Regina C. Betz
SHORT COMMUNICATION - Volume 95, Issue 8 2015
Naevus Comedonicus Syndrome Complicated by Hidradenitis Suppurativa-like Lesions Responding to Acitretin Treatment
Ge Qian, Tao Liu, Chongchen Zhou, Yinghui Zhang
CLINICAL REPORT - Volume 95, Issue 6 2015
Ichthyosis Linearis Circumflexa as the Only Clinical Manifestation of Netherton Syndrome
Liliana Guerra, Paola Fortugno, Cristina Pedicelli, Cinzia Mazzanti, Vittoria Proto, Giovanna Zambruno, Daniele Castiglia
SHORT COMMUNICATION - Volume 95, Issue 7 2015
Junctional Epidermolysis Bullosa with LAMB3 Splice-site Mutations
Dimitra Kiritsi, Laura Huilaja, Claus-Werner Franzke, Nina Kokkonen, Chiara Pazzagli, Agnes Schwieger-Briel, Markku Larmas, Leena Bruckner-Tuderman, Cristina Has, Kaisa Tasanen
QUIZ - Volume 95, Issue 6 2015
Pruritic Papules Following Lumbar Corset Use: A Quiz
Toshinari Miyauchi, Yasuyuki Fujita, Shota Takashima, Yusuke Morita, Shotaro Suzuki, Osamu Mizuno, Nao Saito, Toshifumi Nomura, Hiroshi Shimizu
SHORT COMMUNICATION - Volume 95, Issue 6 2015
ABCA12-deficient Congenital Ichthyosiform Erythroderma in a Boy with an Intellectual Developmental Delay
Yukako Inoue, Masaaki Yamamoto, Yoshiko Sakaguchi, Orie Jitsukawa, Katsunori Hayano, Masayuki Yamane, Michiko Sakamoto, Kiyofumi Yamanishi
SHORT COMMUNICATION - Volume 95, Issue 6 2015
Skin Abnormalities in CHILD Syndrome Successfully Treated with Pathogenesis-based Therapy
Alexandra Golabek Christiansen, Uffe Koppelhus, Mette Sommerlund
SHORT COMMUNICATION - Volume 95, Issue 5 2015
Lipoid Proteinosis Resulting from a Large Homozygous Deletion Affecting Part of the ECM1 Gene and Adjacent Long Non-coding RNA
Ming-Yang Lee, Hui-Jun Wang, Ying Han, Yun Zhou, Jia-Hui Zhao, Li-Na Duo, Cheng Feng, Hong Hua, Hong-Wei Liu, Zhi-Miao Lin, Yong Yang
SHORT COMMUNICATION - Volume 95, Issue 6 2015
Ultrastructural Investigations in an Autosomal Recessively Inherited Case of Dyschromatosis Universalis Hereditaria
Aayush Gupta, Yugal Sharma, Kedar Nath Dash, Sampurna Verma, Vivek T. Natarajan, Archana Singh
SHORT COMMUNICATION - Volume 95, Issue 7 2015
Lamellar Ichthyosis Caused by a Previously Unreported Homozygous ALOXE3 Mutation in East Asia
Kazumitsu Sugiura, Masashi Akiyama
SHORT COMMUNICATION - Volume 95, Issue 5 2015
Localised Dominant Dystrophic Epidermolysis Bullosa with a Novel de Novo Mutation in COL7A1 Diagnosed by Next-generation Sequencing
Makoto Nagai, Hiroshi Nagai, Chiharu Tominaga, Yoshiko Sakaguchi, Orie Jitsukawa, Noriko Ohgo, Chikako Nishigori, Kiyofumi Yamanishi
SHORT COMMUNICATION - Volume 95, Issue 5 2015
Recurrent Finkelstein-Seidlmayer Disease in Four First-degree Relatives
Alessandro Ostini, Gian Paolo Ramelli, Carlo Mainetti, Mario G. Bianchetti, Alessandra Ferrarini
CLINICAL REPORT - Volume 95, Issue 4 2015
Atopic Diathesis in Hypohidrotic/anhidrotic Ectodermal Dysplasia
Hanako Koguchi-Yoshioka, Mari Wataya-Kaneda, Mizuki Yutani, Hiroyuki Murota, Hajime Nakano, Daisuke Sawamura, Ichiro Katayama
SPECIAL REPORT - Volume 95, Issue 4 2015
Health-related Quality of Life in Patients with Cutaneous Rosacea: A Systematic Review
Mireille M.D. van der Linden, Dominique C. van Rappard, Joost G. Daams, Mirjam A.G. Sprangers, Phyllis I. Spuls, John de Korte
CLINICAL REPORT - Volume 95, Issue 3 2015
Desmoplakin Mutations with Palmoplantar Keratoderma, Woolly Hair and Cardiomyopathy
Manuela Pigors, Agnes Schwieger-Briel, Rodica Cosgarea, Adriana Diaconeasa, Leena Bruckner-Tuderman, Thilo Fleck, Cristina Has
CLINICAL REPORT - Volume 95, Issue 3 2015
Burden of Inherited Ichthyosis: A French National Survey
Isabelle Dreyfus, Céline Pauwels, Emmanuelle Bourrat, Anne-Claire Bursztejn, Annabel Maruani, Christine Chiaverini, Aude Maza, Stéphanie Mallet, Didier Bessis, Sébastien Barbarot, Khaled Ezzedine, Pierre Vabres, Juliette Mazereeuw-Hautier
SHORT COMMUNICATION - Volume 95, Issue 3 2015
Polycystic Kidney Disease with Steatocystoma Multiplex: Evidences for a Disruptive Effect of Mutated Polycystin-1 on Keratin 17 Polymerisation
Kozo Yoneda, Kozo Nakai, Toshio Demitsu, Yasuo Kubota
SHORT COMMUNICATION - Volume 95, Issue 3 2015
Recurrent Pyoderma Gangrenosum and Cystic Acne Associated with Leucocyte Adhesion Deficiency due to Novel Mutations in ITGB2: Successful Treatment with Infliximab and Adalimumab
Anders Vahlquist, Lena Douhan Håkansson, Lars Rönnblom, Malgorzata Karawajczyk, Anders Fasth, Marielle E. van Gijn, Dirk Roos, Per Venge
SHORT COMMUNICATION - Volume 95, Issue 3 2015
Darier’s Disease: A novel ATP2A2 Missense Mutation at One of the Calcium-binding Residues
Kana Kaibuchi-Noda, Kazumitsu Sugiura, Takuya Takeichi, Shunsuke Miura, Shinji Kagami, Hiromichi Takama, Haruko Hino, Masashi Akiyama
SHORT COMMUNICATION - Volume 95, Issue 2 2015
Naevoid Basal Cell Carcinoma Syndrome in a 22-month-old Child Presenting with Multiple Basal Cell Carcinomas and a Fetal Rhabdomyoma
Andrea Diociaiuti, Alessandro Inserra, Irene Fuertes De Vega, Cristina Rota, Tiziana Surrenti, Loredana Giraldi, Maria Rosaria Piemontese, Isabella Giovannoni, Francesco Callea, May El Hachem
QUIZ - Volume 95, Issue 1 2015
Recurring Axillary, Abdominal and Genitofemoral Nodules and Abscesses: A Quiz
Charles B. Kromann, Kian Zarchi, Birgit M. Nürnberg, Gregor B.E. Jemec
SHORT COMMUNICATION - Volume 95, Issue 1 2015
ITGB4-associated Junctional Epidermolysis Bullosa without Pylori Atresia but Profound Genito-urinary Involvement
Mingyang Lee, Quan Chen, Huijun Wang, Jie Zhang, Zhimiao Lin, Yong Yang
SHORT COMMUNICATION - Volume 95, Issue 1 2015
Anti-laminin-γ1 Pemphigoid Developed in a Case of Autosomal Recessive Congenital Ichthyosis
Ayaka Ohzono, Sanae Numata, Takahiro Hamada, Shunpei Fukuda, Kwesi Teye, Yusuke Shirakashi, Hiroko Kasai, Hiroshi Koga, Norito Ishii, Makoto Sugiura, Takashi Hashimoto
SHORT COMMUNICATION - Volume 95, Issue 1 2015
CHILD Syndrome: Effective Treatment of Ichthyosiform Naevus with Oral and Topical Ketoconazole
Tao Liu, Ge Qian, Xiao Xia Wang, Yan Guo Zhang
INVESTIGATIVE REPORT - Volume 94, Issue 6 2014
Neurofibromatosis Type 1 Gene Mutation Analysis Using Sequence Capture and High-throughput Sequencing
Elina Uusitalo, Anna Hammais, Elina Palonen, Annika Brandt, Ville-Veikko Mäkelä, Roope Kallionpää, Eeva-Mari Jouhilahti, Minna Pöyhönen, Juhani Soini, Juha Peltonen, Sirkku Peltonen
CLINICAL REPORT - Volume 94, Issue 6 2014
Palmoplantar Keratoderma of the Gamborg-Nielsen Type is Caused by Mutations in the SLURP1 Gene and Represents a Variant of Mal de Meleda
Linshu Zhao, Anders Vahlquist, Marie Virtanen, Lena Wennerstrand, Lisbet Lind, Anita Lundström, Maritta Hellström Pigg
SHORT COMMUNICATION - Volume 95, Issue 2 2015
Health-related Quality of Life in Danish Patients with Hereditary Angioedema
Anne Aabom, Klaus Ejner Andersen, Elia Perez-Fernández, Teresa Caballero, Anette Bygum
SHORT COMMUNICATION - Volume 95, Issue 1 2015
Punctate Palmoplantar Keratoderma Type 1: A Novel AAGAB Mutation and Efficacy of Etretinate
Toshifumi Nomura, Akihiro Yoneta, Elizabeth Pohler, Shotaro Suzuki, Rinko Osawa, Osamu Mizuno, Yuka Ohguchi, Yukiko Nomura, Toshiharu Yamashita, W.H. Irwin McLean, Hiroshi Shimizu
SHORT COMMUNICATION - Volume 94, Issue 5 2014
Lethal Form of Keratitis–Ichthyosis–Deafness Syndrome Caused by the GJB2 Mutation p.Ser17Phe
Juliette Mazereeuw-Hautier, Christine Chiaverini, Nathalie Jonca, Eric Bieth, Isabelle Dreyfus, Aude Maza, Nathalie Cardot-Leccia, Christophe Perrin, Jean-Philippe Lacour
INVESTIGATIVE REPORT - Volume 94, Issue 5 2014
A Retrospective Study of Clinical and Mutational Findings in 45 Danish Families with Ectodermal Dysplasia
Mathias Tiedemann Svendsen, Emil Henningsen, Jens Michael Hertz, Dorthe Vestergaard Grejsen, Anette Bygum
CLINICAL REPORT - Volume 94, Issue 5 2014
Early Immunopathological Diagnosis of Ichthyosis with Confetti in Two Sporadic Cases with New Mutations in Keratin 10
Andrea Diociaiuti, Paola Fortugno, May El Hachem, Corrado Angelo, Vittoria Proto, Naomi De Luca, Diego Martinelli, Renata Boldrini, Daniele Castiglia, Giovanna Zambruno
QUIZ - Volume 94, Issue 5 2014
Hypertrophic Left Calf and Multiple Flesh-coloured Subcutaneous Tumours in a 5-year-old Girl: A Quiz
Maartje J. van Geel, Marc Wijnen, Esther P.A.H. Hoppenreijs, Nicole Gierenz, Liesbeth Spruijt, Martine P.A. van Koolwijk, Uta Flucke, Willeke A.M. Blokx, Marieke M.B. Seyger
QUIZ - Volume 94, Issue 5 2014
Unilateral Eruption of Painful Papules: A Quiz
Annabel D. Scott, Nicholas Francis, Sarita Singh
SHORT COMMUNICATION - Volume 94, Issue 5 2014
Novel TGM1 Missense Mutation p.Arg727Gln in a Case of Self-healing Collodion Baby
Kana Tanahashi, Kazumitsu Sugiura, Kenji Asagoe, Yumi Aoyama, Keiji Iwatsuki, Masashi Akiyama
CLINICAL REPORT - Volume 94, Issue 2 2014
Tumescent Suction Curettage vs. Curettage Only for Treatment of Axillary Hyperhidrosis Evaluated by Subjective and New Objective Methods
Christian Tronstad, Per Helsing, Kim Alexander Tønseth, Sverre Grimnes, Anne Lene Krogstad
SHORT COMMUNICATION - Volume 93, Issue 5 2013
Squamous Cell Carcinoma Arising from Keratitis–Ichthyosis–Deafness Syndrome
Hiroshi Mayama, Taku Fujimura, Masayuki Asano, Yumi Kambayashi, Yukikazu Numata, Setsuya Aiba
SHORT COMMUNICATION - Volume 93, Issue 5 2013
A Novel Keratin 5 Mutation in an African Family with Epidermolysis Bullosa Simplex Indicates the Importance of the Amino Acid Located at the Boundary Site Between the H1 and Coil 1A Domains
Satoru Shinkuma, Wataru Nishie, Witold K. Jacyk, Ken Natsuga, Hideyuki Ujiie, Hideki Nakamura, Masashi Akiyama, Hiroshi Shimizu
SHORT COMMUNICATION - Volume 93, Issue 5 2013
Sporadic VACTERL Association in a Japanese Family with Sjögren-Larsson Syndrome
Takuya Takeichi, Kazumitsu Sugiura, Hidee Arai, Ken Ishii, Michihiro Kono, Masashi Akiyama
LETTER TO THE EDITOR - Volume 93, Issue 4 2013
Porokeratotic Eccrine Ostial and Dermal Duct Naevus and Aberrantly Regulated Keratinization
Naoki Oiso, Ichiro Kurokawa, Masatomo Kimura, Airo Tsubura, Akira Kawada
LETTER TO THE EDITOR - Volume 93, Issue 4 2013
Successful Treatment with Alitretinoin of Dissecting Cellulitis of the Scalp in Keratitis-Ichthyosis-Deafness Syndrome
Sumangali Chandra Prasad, Anette Bygum
LETTER TO THE EDITOR - Volume 93, Issue 4 2013
Electron-microscopy of Cherry Haemangioma in the Early Diagnosis of Fabry Disease
Atsushi Tokuriki, Takahiro Kiyohara, Masanobu Kumakiri
CLINICAL REPORT - Volume 93, Issue 3 2013
Generalized and Naevoid Epidermolytic Ichthyosis in Denmark: Clinical and Mutational Findings
Anette Bygum, Marie Virtanen, Flemming Brandrup, Agneta Gånemo, Mette Sommerlund, Gitte Strauss, Anders Vahlquist
LETTER TO THE EDITOR - Volume 93, Issue 2 2013
Novel Mutation in GJB4 Gene (Connexin 30.3) in a Family with Erythrokeratodermia Variabilis
Emilie Sbidian, Norredine Bousseloua, Laurence Jonard, Stéphanie Leclerc-Mercier, Christine Bodemer, Smail Hadj-Rabia
LETTER TO THE EDITOR - Volume 93, Issue 1 2013
A Case of Almost Unilateral Focal Dermal Hypoplasia Resulting From a Novel Mutation in the Gene
Masayuki Asano, Taku Fujimura, Chihiro Wakusawa, Yoko Aoki, Yoichi Matsubara, Setsuya Aiba
LETTER TO THE EDITOR - Volume 93, Issue 1 2013
Prostaglandin E2 Increase in Pachydermoperiostosis Without 15-hydroprostaglandin Dehydrogenase Mutations
Kyoko Nakahigashi, Atsushi Otsuka, Hiromi Doi, Satsuki Tanaka, Yoshiaki Okajima, Hironori Niizeki, Asami Hirakiyama, Yoshiki Miyachi, Kenji Kabashima
LETTER TO THE EDITOR - Volume 93, Issue 1 2013
Brooke-Spiegler Syndrome Associated with Ulcerative Rectosigmoiditis
Sirkku Peltonen, Minna Kankuri-Tammilehto
LETTER TO THE EDITOR - Volume 93, Issue 1 2013
Successful Therapeutic Use of Targeted Narrow-band Ultraviolet B Therapy for Refractory Hailey-Hailey Disease
Toshihisa Hamada, Hiroshi Umemura, Yumi Aoyama, Keiji Iwatsuki
QUIZ - Volume 93, Issue 1 2013
Cutaneous Atrophic Guttate Lesions in a Linear and Reticulate Pattern: A Quiz
Maria Lentini, Donatella Greco, Carmelo Schepis
LETTER TO THE EDITOR - Volume 93, Issue 1 2013
Long-term Follow-up of a Spontaneously Improving Patient with Junctional Epidermolysis Bullosa Associated with ITGB4 c.3977-19T>A Splicing Mutation
Andrea Diociaiuti, Daniele Castiglia, Francesco Morini, Renata Boldrini, Paola Fortugno, Giovanna Zambruno, May El Hachem
INVESTIGATIVE REPORT - Volume 93, Issue 1 2013
Retinoids Reduce Formation of Keratin Aggregates in Heat-stressed Immortalized Keratinocytes from an Epidermolytic Ichthyosis Patient with a KRT10 Mutation*
Hao Li, Hans Törmä
LETTER TO THE EDITOR - Volume 93, Issue 1 2013
Agminated Blue Naevi in a Patient with EMO Syndrome
Linda Milkova, Regina Treudler, Jan-Christoph C. Simon, Manfred Kunz
CLINICAL REPORT - Volume 92, Issue 6 2012
Successful Treatment of Multiple Basaliomas with Bleomycin-based Electrochemotherapy: A Case Series of Three Patients with Gorlin-Goltz Syndrome
Erika Kis, Eszter Baltás, Ágnes Kinyó, Erika Varga, Nikoletta Nagy, Rolland Gyulai, Lajos Kemény, Judit Oláh
LETTER TO THE EDITOR - Volume 92, Issue 6 2012
Enamel Defects in Carriers of a Novel LAMA3 Mutation Underlying Epidermolysis Bullosa
Wing Yan Yuen, Anna M.G. Pasmooij, Cornelis Stellingsma, Marcel F. Jonkman
LETTER TO THE EDITOR - Volume 92, Issue 6 2012
Splicing Aberration in Naevoid Basal Cell Carcinoma Syndrome
Yosuke Ishitsuka, Junichi Furuta, Toshiyuki Miyashita, Fujio Otsuka
LETTER TO THE EDITOR - Volume 92, Issue 3 2012
Oral Alitretinoin in Congenital Ichthyosis: A Pilot Study Shows Variable Effects and a Risk of Central Hypothyroidism
Agneta Gånemo, Mette Sommerlund, Anders Vahlquist
LETTER TO THE EDITOR - Volume 92, Issue 4 2012
Topical Tacrolimus and 50% Zinc Oxide Paste for Hailey-Hailey Disease: Less is More
Calogero Pagliarello, Andrea Paradisi, Caterina Dianzani, Mauro Paradisi, Paolo Persichetti
LETTER TO THE EDITOR - Volume 92, Issue 3 2012
Disseminated Cutaneous Glomangiomas in an Adolescent Boy
Alena Borovaya, Christian Kunte, Michael J. Flaig, Kerstin Albrecht, Ilana Goldscheider, Hans Christian Korting, Thomas Ruzicka, Miklós Sárdy
LETTER TO THE EDITOR - Volume 92, Issue 2 2012
Phylloid Hypermelanosis in a Child with Psychomotor Delay, Cicatricial Alopecia, Hearing Loss and Polythelia
Anette Bygum, Yanko Petkov, Jesper Graakjaer, Uffe Birk Jensen, Christina Fagerberg
LETTER TO THE EDITOR - Volume 92, Issue 2 2012
Late Onset of Skin Manifestations in Birt-Hogg-Dubé Syndrome with FLCN Mutation p.W260X
Elke C. Sattler, Martin U. Lang, Maurice A.M. van Steensel, Michel van Geel, Josef J. Schneider, Michael J. Flaig, Thomas Ruzicka, Walter Burgdorf, Ortrud K. Steinlein
CLINICAL REPORT - Volume 92, Issue 2 2012
Congenital Spindle Cell Naevus with Unusual Transformation: Proliferative Nodule or Melanoma?
Katharina Flux, Wolfgang Hartschuh
CLINICAL REPORT - Volume 92, Issue 1 2012
Genotype–Phenotype Correlation in Chinese Patients with Dystrophic Epidermolysis Bullosa Pruriginosa
Wei Jiang, Ting-ting Sun, Peng-cheng Lei, Xue-jun Zhu
LETTER TO THE EDITOR - Volume 91, Issue 6 2011
Bullous Dermolysis of the Newborn and Dystrophic Epidermolysis Bullosa Pruriginosa within the Same Family: Two Phenotypes Associated with a COL7A1 Mutation
Kana Murase, Hiroyuki Kanoh, Norito Ishii, Takashi Hashimoto, Hajime Nakano, Daisuke Sawamura, Mariko Seishima
LETTER TO THE EDITOR - Volume 91, Issue 6 2011
An Unusual Missense Mutation in the GJB3 Gene Resulting in Severe Erythrokeratodermia Variabilis
Martin Glatz, Maurice A.M. van Steensel, Michel van Geel, Peter M. Steijlen, Peter Wolf
LETTER TO THE EDITOR - Volume 91, Issue 5 2011
A Case of Phacomatosis Pigmentokeratotica in Japanese Monozygotic Twins
Akiko Tara, Asuka Sada, Takuya Inoue, Noriyuki Misago, Yutaka Narisawa
CLINICAL REPORT - Volume 91, Issue 4 2011
Concomitant Manifestation of Pili Annulati and Alopecia Areata: Coincidental Rather than True Association
Kathrin A. Giehl, Matthias Schmuth, Antonella Tosti, David A. De Berker, Alexander Crispin, Hans Wolff, Jorge Frank
LETTER TO THE EDITOR - Volume 91, Issue 5 2011
Cerebriform Plantar Hyperplasia: The Clinico-pathological Hallmark of Proteus Syndrome
Alessandro Di Stefani, Massimo Gabellini, Amedeo Ferlosio, Luigi Giusto Spagnoli, Sergio Chimenti, Augusto Orlandi
INVESTIGATIVE REPORT - Volume 91, Issue 3 2011
Novel and Recurrent FERMT1 Gene Mutations in Kindler Syndrome
Tanasit Techanukul, Gomathy Sethuraman, Abraham Zlotogorski, Liran Horev, Michal Macarov, Alison Trainer, Kenneth Fong, Marko Lens, Ljiljana Medenica, Venkatesh Ramesh, John A. McGrath, Joey E. Lai-Cheong
INVESTIGATIVE REPORT - Volume 91, Issue 3 2011
Identical Glycine Substitution Mutations in Type VII Collagen May Underlie Both Dominant and Recessive Forms of Dystrophic Epidermolysis Bullosa
Noor Almaani, Lu Liu, Patricia J. C. Dopping-Hepenstal, Joey E. Lai-Cheong, Alvin Wong, Arti Nanda, Celia Moss, Anna E. Martinez, Jemima E. Mellerio, John A. McGrath
LETTER TO THE EDITOR - Volume 91, Issue 3 2011
Intra-familial Variability of Ectodermal Defects Associated with WNT10A Mutations
Emma K. Wedgeworth, Nikoletta Nagy, Jonathan M.L. White, Andrew C. Pembroke, John A. McGrath
LETTER TO THE EDITOR - Volume 91, Issue 2 2011
Hereditary Gelsolin Amyloidosis: A New Japanese Case with Cutis Laxa as a Diagnostic Clue
Akihiko Asahina, Teruo Yokoyama, Mitsuharu Ueda, Yukio Ando, Noboru Ohshima, Ikuo Saito, Etsuko Tadokoro, Kazuko Hasegawa
LETTER TO THE EDITOR - Volume 91, Issue 1 2011
A Novel PTEN Mutation in a Korean Patient with Cowden Syndrome and Vascular Anomalies
Byung Gi Bae, Hee Jung Kim, Sang-Guk Lee, Jong Rak Choi, Chul Hwang, Jeung Hoon Lee, Kyung-A Lee, Min-Geol Lee
LETTER TO THE EDITOR - Volume 91, Issue 1 2011
Calciphylaxis in POEMS Syndrome: A Case Treated with Etidronate
Mika Yoshikawa, Hisashi Uhara, Fuyuko Arakura, Hiroshi Murata, Hitomi Kubo, Minoru Takata, Kunihiro Yoshida, Ryuhei Okuyama
REVIEW - Volume 90, Issue 5 2010
Pleomorphic Ichthyosis: Proposed Name for a Heterogeneous Group of Congenital Ichthyoses with Phenotypic Shifting and Mild Residual Scaling
Anders Vahlquist
LETTER TO THE EDITOR - Volume 90, Issue 6 2010
Common IL-31 Gene Haplotype Associated with Non-atopic Eczema is Not Implicated in Epidermolysis Bullosa Pruriginosa
Nikoletta Nagy, Akio Tanaka, Tanasit Techanukul, John A. McGrath
LETTER TO THE EDITOR - Volume 91, Issue 1 2011
Leg Ulcers Associated with Positive Lupus Anticoagulant in Two Cases of Klinefelter’s Syndrome
Yasufumi Goto, Hisashi Uhara, Hiroshi Murata, Hiroshi Koga, Tomoki Kosho, Masahide Yamazaki, Minoru Takata, Ryuhei Okuyama
CLINICAL REPORT - Volume 90, Issue 6 2010
Association Between Venous Leg Ulcers and Sex Chromosome Anomalies in Men
Cornelia Gattringer, Christine Scheurecker, Reinhard Höpfl, Hansgeorg Müller
CLINICAL REPORT - Volume 90, Issue 6 2010
Family Burden in Epidermolysis Bullosa is High Independent of Disease Type/Subtype
Stefano Tabolli, Calogero Pagliarello, Claudia Uras, Cristina Di Pietro, Giovanna Zambruno, Daniele Castiglia, Francesca Sampogna, Damiano Abeni
LETTER TO THE EDITOR - Volume 90, Issue 5 2010
SAPHO Syndrome with Unusual Cutaneous Manifestations Treated Successfully with Etanercept
Jaime Vilar-Alejo, Luis Dehesa, Pilar de la Rosa-del Rey, Javier Novoa-Medina, Pedro Valerón-Almazán, Néstor Santana Medina, Jesús Bastida
CLINICAL REPORT - Volume 90, Issue 5 2010
Hepatocellular Carcinoma in Variegate Porphyria: A Serious Complication
Xiaoye Schneider-Yin, Anne-Moon van Tuyll van Serooskerken, Philip Went, Wojciech Tyblewski, Pamela Poblete-Gutiérrez, Eliabeth I. Minder, Jorge Frank
LETTER TO THE EDITOR - Volume 90, Issue 3 2010
Somatostatin-producing Endocrine Tumour of the Duodenum Associated with Type 1 Neurofibromatosis
Charlotte Pernet, Nicolas Kluger, Aurélie Du-Thanh, Françoise Guillon, Olivier Dereure, Didier Bessis, Bernard Guillot
LETTER TO THE EDITOR - Volume 90, Issue 4 2010
Dermochondrocorneal Dystrophy (Francois’ Syndrome)
Jane Baumgartner-Nielsen, Jesper Hjortdal, Karsten Fogh
CLINICAL REPORT - Volume 90, Issue 3 2010
Phacomatosis Pigmentokeratotica with Nephroblastoma and Juvenile Hypertension
Simon Jacobelli, Stéphanie Leclerc-Mercier, Rémi Salomon, Olivier Hartmann, Frances Brunelle, Rudolf Happle, Christine Bodemer, Smail Hadj-Rabia
CLINICAL REPORT - Volume 90, Issue 3 2010
Familial Erythrokeratodermia Variabilis with Pustular Lesions: A New Variant?
Li Zhang, Wei Huo, Xing-Hua Gao, Lei Ma, Yuhong Xiu, Song Zheng, Yuziao Hong, Hong-Duo Chen
INVESTIGATIVE REPORT - Volume 90, Issue 2 2010
Platelet-derived Growth Factor Receptor Alpha Gene Mutations in Vitiligo Vulgaris
Shengxin Xu, Youwen Zhou, Sen Yang, Yunqing Ren, Chi Zhang, Cheng Quan, Min Gao, Caifeng He, Hui Chen, Jianwen Hhan, Jianjun Chen, Yanhua Liang, Jianqiang Yang, Liangdan Sun, Xianyong Yin, Jianjun Liu, Xuejun Zhang
LETTER TO THE EDITOR - Volume 90, Issue 2 2010
Naevus Lentiginosus Linearis: A Distinct Skin Disorder
Rudolf Happle, Dieter Metze, Ángel Vera Casaño
LETTER TO THE EDITOR - Volume 90, Issue 2 2010
Infantile Erosive Pustular Dermatosis of the Scalp Associated with Klippel-Feil Syndrome
Ryoko Shimada, Takashi Masu, Hiroshi Hanamizu, Setsuya Aiba, Ryuhei Okuyama
LETTER TO THE EDITOR - Volume 90, Issue 2 2010
Development of Segmental Superficial Actinic Porokeratosis during Immunosuppressive Therapy for Pemphigus Vulgaris
Timo Buhl, B. Gregor Wienrich, Claudia Sieblist, Michael P. Schön, Cornelia S. Seitz
LETTER TO THE EDITOR - Volume 90, Issue 3 2010
Linear and Whorled Nevoid Hypermelanosis and Axenfeld-Rieger Anomaly: A Novel Association
Mar Llamas-Velasco, Cristina Eguren, Eva Arranz, Monica Renedo, Diego de Argila, Amaro García-Díez
REVIEW - Volume 90, Issue 1 2010
A Practical Classification of Childhood Hypopigmentation Disorders
Hong Liang Tey
CLINICAL REPORT - Volume 90, Issue 2 2010
Persistent Improvement of Previously Recalcitrant Hailey-Hailey Disease with Electron Beam Radiotherapy
Joanna Narbutt, Anna Chrusciel, Anna Rychter, Jacek Fijuth, Anna Sysa-Jedrzejowska, Aleksandra Lesiak
CLINICAL REPORT - Volume 90, Issue 2 2010
Response of Intractable Skin Ulcers in Recessive Dystrophic Epidermolysis Bullosa Patients to an Allogeneic Cultured Dermal Substitute
Ken Natsuga, Daisuke Sawamura, Maki Goto, Erina Homma, Yuka Goto-Ohguchi, Satoru Aoyagi, Masashi Akiyama, Yoshimitsu Kuroyanagi, Hiroshi Shimizu
LETTER TO THE EDITOR - Volume 90, Issue 1 2010
A New SPINK5 Donor Splice Site Mutation in Siblings with Netherton Syndrome
Beyhan Tüysüz, David Ojalvo, Cem Mat, Giovanna Zambruno, Claudia Covaciu, Daniele Castiglia, Marina D'Alessio
LETTER TO THE EDITOR - Volume 90, Issue 1 2010
Mutations in Lipase H Gene Underlie Autosomal Recessive Hypotrichosis in Five Pakistani Families
Umm-e Kalsoom, Rabia Habib, Bushra Khan, Ghazanfar Ali, Nadir Ali, Muhammad Ansar, Wasim Ahmad
CLINICAL REPORT - Volume 90, Issue 1 2010
Hereditary Progressive Mucinous Histiocytosis: First Report in a Male Patient
Christiane Schlegel, Gisela Metzler, Walter. Burgdorf, Martin Schaller
QUIZ - Volume 89, Issue 6 2009
Puffy Feet in an 11-month-old Infant: A Quiz
Ayse Esra Yılmaz, Evren Sarifakioglu, Canan Gorpelioglu, Musemma Karabel, Guzide Dogan
QUIZ - Volume 89, Issue 5 2009
A Soft Lesion on the Scrotum: A Quiz
Min Young Park, You Chan Kim
LETTER TO THE EDITOR - Volume 89, Issue 4 2009
Benign Symmetric Lipomatosis Associated with Atopic Dermatitis and Chronic Alcohol Abuse in a Japanese Man
Tamihiro Kawakami, Sora Takeuchi, Yoshinao Soma
LETTER TO THE EDITOR - Volume 89, Issue 5 2009
Lipoid Proteinosis: Identification of Two Novel Mutations in the Human ECM-1 Gene and Lack of Genotype-Phenotype Correlation
Liran Horev, Uwe Wollina, Tamara Potikha, Ariela Hafner, Arieh Ingber, Lu Liu, John A McGrath, Abraham Zlotogorski
LETTER TO THE EDITOR - Volume 89, Issue 4 2009
Cutis Verticis Gyrata in a Patient with Hyper-IgE Syndrome
Hei Sung Kim, Rachael Yu Lin Teo, Audrey Wei-Hsia Tan
REVIEW - Volume 89, Issue 3 2009
Progress in Heritable Skin Diseases: Translational Implications of Mutation Analysis and Prospects of Molecular Therapies
Jouni Uitto
LETTER TO THE EDITOR - Volume 89, Issue 3 2009
Multiple Accessory Tragi without Cartilage: Relationship with Hair Follicle Naevi?
Akihiko Asahina, Hiroyuki Mitomi, Naoki Sakurai, Hideki Fujita
INVESTIGATIVE REPORT - Volume 89, Issue 1 2009
New Glycine Substitution Mutations in Type VII Collagen Underlying Epidermolysis Bullosa Pruriginosa but the Phenotype is not Explained by a Common Polymorphism in the Matrix Metalloproteinase-1 Gene Promoter
Noor Almaani, Lu Liu, Naomi Harrison, Akio Tanaka, Joey E. Lai-Cheong, Jemima E. Mellerio, John A. McGrath
CLINICAL REPORT - Volume 89, Issue 3 2009
Assessment of Cryotherapy for the Treatment of Verrucous Epidermal Naevi
Antonios Panagiotopoulos, Vasiliki Chasapi, Vasiliki Nikolaou, Panagiotis G. Stavropoulos, Kyriockos Kafouros, Athanasios Petridis, Andreas Katsambas
LETTER TO THE EDITOR - Volume 89, Issue 4 2009
Fatal Case of Darier’s Disease with Recurrent Severe Infections
Etsuko Okada, Yayoi Nagai, Sei-ichiro Motegi, Atsushi Tamura, Osamu Ishikawa
INVESTIGATIVE REPORT - Volume 89, Issue 1 2009
Expression of Retinoid-regulated Genes in Lamellar Ichthyosis vs. Healthy Control Epidermis: Changes after Oral Treatment with Liarozole
Elizabeth Pavez Loriè, Agneta Gånemo, Marcel Borgers, Luc Wouters, Stan Blockhuys, Lieve van de Plassche, Hans Törmä, Anders Vahlquist
LETTER TO THE EDITOR - Volume 89, Issue 3 2009
Phacomatosis Cesioflammea Associated with Pectus Excavatum
Ching-Ying Wu, Po-Hung Chen, Gwo-Shing Chen
CLINICAL REPORT - Volume 89, Issue 1 2009
Sjögren-Larsson Syndrome: A Study of Clinical Symptoms and Dermatological Treatment in 34 Swedish Patients
Agneta Gånemo, Sten Jagell, Anders Vahlquist
LETTER TO THE EDITOR - Volume 89, Issue 1 2009
Two Cases of Confluent and Reticulated Papillomatosis with an Unusual Location
Deborah Lee, Kyung-Jong Cho, Soon-Kwon Hong, Jong-Keun Seo, Seon-Wook Hwang, Ho-Suk Sung
INVESTIGATIVE REPORT - Volume 89, Issue 2 2009
Lack of Association between Neuropeptide S Receptor 1 Gene (NPSR1) and Eczema in Five European Populations
Elisabeth Ekelund, Maria Bradley, Stephan Weidinger, Dragan L. Jovanovic, Catharina Johansson, Cecilia M. Lindgren, Antonia Todorova, Thilo Jakob, Thomas Illig, Erika von Mutius, Charlotte Braun-Fahrländer, Gert Doekes, Josef Riedler, Annika Scheynius, Göran Pershagen, Ingrid Kockum, Juha Kere
CLINICAL REPORT - Volume 88, Issue 6 2008
Schöpf-Schulz-Passarge Syndrome: Further Delineation of the Phenotype and Genetic Considerations
Marco Castori, Salvatore Ruggieri, Luca Giannetti, Giorgio Annessi, Giovanna Zambruno
LETTER TO THE EDITOR - Volume 88, Issue 6 2008
Coincident Two Mutations and One Single Nucleotide Polymorphism of the PTCH1 Gene in a Family with Naevoid Basal Cell Carcinoma Syndrome
Shoko Abe, Kenji Kabashima, Jun-ichi Sakabe, Takatoshi Shimauchi, Zhang Yan, Tetsuji Okamoto, Yoshiki Tokura
LETTER TO THE EDITOR - Volume 88, Issue 5 2008
Successful Isotretinoin Treatment of Acne in a Patient with Apert Syndrome
Mateja Dolenc-Voljč, Meta Finžgar-Perme
LETTER TO THE EDITOR - Volume 88, Issue 5 2008
Congenital Dermoid Fistula of the Anterior Chest Region
Toshiaki Numajiri, Kenichi Nishino, Maki Uenaka, Yoshihiro Sowa
CLINICAL REPORT - Volume 88, Issue 4 2008
Segmentally Arranged Basaloid Follicular Hamartomas with Osseous, Dental and Cerebral Anomalies: A Distinct Syndrome
Rudolf Happle, Sigrid Tinschert
INVESTIGATIVE REPORT - Volume 88, Issue 5 2008
Differential Expression of Pyloric Atresia in Junctional Epidermolysis Bullosa with ITGB4 Mutations Suggests that Pyloric Atresia is due to Factors Other than the Mutations and Not Predictive of a Poor Outcome: Three Novel Mutations and a Review of the Li
Ningning Dang, Sandra Klingberg, Adam I. Rubin, Matthew Edwards, Siegfried Borelli, John Relic, Penelope Marr, Kim Tran, Anne Turner, Nicholas Smith, Dédée F. Murrell
LETTER TO THE EDITOR - Volume 88, Issue 5 2008
Congenital Hyponychia without RSPO4 Mutation
Motonobu Nakamura, Yoshiki Miyachi
INVESTIGATIVE REPORT - Volume 88, Issue 4 2008
Atrichia with Papular Lesions: A Report of Three Novel Human Hairless Gene Mutations and a Revision of Diagnostic Criteria
Leona Yip, Liran Horev, Rodney Sinclair, Abraham Zlotogorski
LETTER TO THE EDITOR - Volume 88, Issue 4 2008
Diagnosis of Hailey-Hailey Disease Facilitated by DNA Testing: A Novel Mutation in ATP2C1
Ikue Nemoto-Hasebe, Masashi Akiyama, Rinko Osawa, Hiroyuki Nakamura, Hiroshi Shimizu
LETTER TO THE EDITOR - Volume 88, Issue 4 2008
Keratitis-Ichthyosis-Deafness Syndrome Lacking Subjective Hearing Impairment
Ikue Nemoto-Hasebe, Masashi Akiyama, Nanako Yamada, Yoshitsugu Inoue, Chizu Touge, Hiroshi Shimizu
LETTER TO THE EDITOR - Volume 88, Issue 4 2008
A BHD Germline Mutation Identified in an Asian Family with Birt-Hogg-Dubé Syndrome
Noriyuki Misago, Keiichiro Joh, Hitomi Yatsuki, Hidenobu Soejima, Yutaka Narisawa
INVESTIGATIVE REPORT - Volume 88, Issue 4 2008
A Study of the Mu Opioid Receptor Gene Polymorphism A118G in Patients with Primary Biliary Cirrhosis with and without Pruritus
Lin Xiang Wei, Annarosa Floreani, Angella Variola, Cherif El Younis, Nora V. Bergasa
LETTER TO THE EDITOR - Volume 88, Issue 3 2008
Unusual Presentation of Trichoadenoma in an Infant
Ji Hyun Lee, Yoon Young Kim, Sun Yeong Yoon, Jeong Deuk Lee, Sang Hyun Cho
INVESTIGATIVE REPORT - Volume 88, Issue 1 2008
Loss-of-function Variants of the Filaggrin Gene are Associated with Atopic Eczema and Associated Phenotypes in Swedish Families
Elisabeth Ekelund, Agne Liedén, Jenny Link, Simon P. Lee, Mauro D'Amato, Colin N.A. Palmer, Ingrid Kockum, Maria Bradley
CLINICAL REPORT - Volume 88, Issue 2 2008
Main Problems Experienced by Children with Epidermolysis Bullosa: a Qualitative Study with Semi-structured Interviews
Corinne van Scheppingen, Ant T. Lettinga, José C. Duipmans, Carel G.B. Maathuis, Marcel F. Jonkman
LETTER TO THE EDITOR - Volume 88, Issue 2 2008
A Non-Epidermolytic Epidermal Naevus of a Soft, Papillomatous Type with Transitional Cell Cancer of the Bladder: A Case Report and a Review of Non-cutaneous Cancers Associated with the Epidermal Naevi
Ellen Flosadóttir, Bolli Bjarnason
CLINICAL REPORT - Volume 88, Issue 1 2008
Multiple Self-healing Squamous Epithelioma of Ferguson-Smith: Observations in a Danish Family Covering Four Generations
Sigurd Broesby-Olsen, Anette Bygum, Anne-Marie Gerdes, Flemming Brandrup
LETTER TO THE EDITOR - Volume 88, Issue 2 2008
Fatal Bullous Pyoderma Gangrenosum in a Patient with Klinefelter
Angelo Valerio Marzano, Valentina Trevisan, Chiara Galloni, Elvio Alessi
LETTER TO THE EDITOR - Volume 88, Issue 1 2008
Single Base Mutation in the Fumarate Hydratase Gene Leading to Segmental Cutaneous Leiomyomatosis
Eva Huter, Noel C. Wortham, Wolfgang Hartschuh, Alexander Enk, Uta Jappe
CLINICAL REPORT - Volume 88, Issue 1 2008
Conradi-Hünermann-Happle Syndrome (X-linked Dominant Chondrodysplasia Punctata) Confirmed by Plasma Sterol and Mutation Analysis
Annette Kolb-Mäurer, Karl-Heinz Grzeschik, Dorothea Haas, Eva-Bettina Bröcker, Henning Hamm
INVESTIGATIVE REPORT - Volume 87, Issue 6 2007
Analysis of SPINK 5, KLK 7 and FLG Genotypes in a French Atopic Dermatitis Cohort
Thomas Hubiche, Cécile Ged, Antoine Benard, Christine Léauté-Labrèze, Ken McElreavey, Hubert de Verneuil, Alain Taïeb, Franck Boralevi
CLINICAL REPORT - Volume 88, Issue 1 2008
Malignant Transformation of Multiple Familial Trichoepithelioma: Case Report and Literature Review
Kyung Ho Lee, Jung Eun Kim, Baik Kee Cho, Yu Chan Kim, Chul Jong Park
LETTER TO THE EDITOR - Volume 88, Issue 1 2008
Three Different Epidermal Naevi With No Organ Involvement: Sebaceous Naevus, Naevus Comedonicus and Becker’s Naevus
Osman Köse, Ercan Çalişkan, Zafer Kurumlu
LETTER TO THE EDITOR - Volume 87, Issue 6 2007
Novel and Recurrent KIND1 Mutations in Two Patients with Kindler Syndrome and Severe Mucosal Involvement
A. Tülin Mansur, Nursel H. Elcioglu, Ikbal E. Aydıngöz, A. Deniz Akkaya, Zehra Asiran Serdar, Corinna Herz, Leena Bruckner-Tuderman, Cristina Has
LETTER TO THE EDITOR - Volume 87, Issue 6 2007
Dowling-Degos Disease with Asymmetrical Axillary Distribution and No KRT 5 Exon 1 Mutation
Akihiko Asahina, Norihisa Ishii, Hiromichi Kai, Mizuho Yamamoto, Hideki Fujita
INVESTIGATIVE REPORT - Volume 87, Issue 5 2007
Homozygous Missense Mutation in the ECM1 Gene in Chinese Siblings with Lipoid Proteinosis
Beibei Han, Xinglian Zhang, Qiang Liu, Xixue Chen, Xuejun Zhu
INVESTIGATIVE REPORT - Volume 87, Issue 2 2007
Study of Psychological Stress, Sebum Production and Acne Vulgaris in Adolescents
Gil Yosipovitch, Mark Tang, Aerlyn G. Dawn, Mark Chen, Chee Leok Goh, Yiong Huak Chan, Lim Fong Seng
LETTER TO THE EDITOR - Volume 87, Issue 4 2007
Coexistence of Linear Porokeratosis and Disseminated Superficial Actinic Porokeratosis: A Type 2 Segmental Manifestation
Oscar Suárez-Amor, Mercedes Pereiro-Ferreirós, Manuel Ginarte, Carmen Peteiro, Jaime Toribio
INVESTIGATIVE REPORT - Volume 87, Issue 2 2007
Clinical Associations of the Risk Alleles of HLA-Cw6 and CCHCR1*WWCC in Psoriasis
Sari Suomela, Kati Kainu, Päivi Onkamo, Inkeri Tiala, Johan Himberg, Lotta Koskinen, Erna Snellman, Seija-Liisa Karvonen, Jaakko Karvonen, Tutta Uurasmaa, Timo Reunala, Kristiina Kivikäs, Christer T. Jansén, Päivi Holopainen, Outi Elomaa, Juha Kere, Ulpu Saarialho-Kere
LETTER TO THE EDITOR - Volume 86, Issue 3 2006
Severe Acne Successfully Treated With Etanercept
Elena Campione, Anna Maria Mazzotta, Luca Bianchi, Sergio Chimenti
LETTER TO THE EDITOR - Volume 86, Issue 3 2006
Scoring of Skin Lesions with the Perioral Dermatitis Severity Index (PODSI)
Andreas Wollenberg, Tilmann Oppel
LETTER TO THE EDITOR - Volume 86, Issue 3 2006
Rosacea Fulminans Related to Pegylated Interferon Alpha-2b and Ribavirin Therapy
Vincenzo Bettoli, Lucia Mantovani, Sergio Boccia, Annarosa Virgili
LETTER TO THE EDITOR - Volume 86, Issue 1 2006
Pimecrolimus Cream 1% is Effective in a Case of Granulomatous Rosacea
Paulo Rowilson Cunha, Ana Beatris Rossi
LETTER TO THE EDITOR - Volume 86, Issue 1 2006
Pimecrolimus Cream 1% is Effective in Seborrhoeic Dermatitis Refractory to Treatment with Topical Corticosteroids
Paulo Rowilson Cunha