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These articles have been accepted for publication in Acta Dermato-Venereologica and are currently being edited and typeset. Readers should note that articles published below have been fully refereed, but have not been through the copy-editing and proof correction process. Only Abstract is possible to read. When this process is finalized the complete paper will be able to find.
REVIEW
An Early Description of a “Human Mosaic” Involving the Skin: A Story from 1945
Rudolf Happle
In 1945, the Journal of Heredity published an impressive article entitled “A human mosaic: bilaterally asymmetrical noevus pigmentosus pilosus et mollusciformis unilateralis.” The author was M. Zlotnikoff, a Russian physician working in Ivanovo, a city located approximately 250 km northeast of Moscow. Zlotnikoff described a 24-year-old woman with a congenital linear epidermal naevus in a syste ...
Abstract
REVIEW
Spectrum of Genetic Autoinflammatory Diseases Presenting with Cutaneous Symptoms
Hanna Bonnekoh, Monique Butze, Tilmann Kallinich, Naotomo Kambe, Georgios Kokolakis, Karoline Krause
Autoinflammatory diseases comprise a group of chronic disabling entities characterized by inflammation without the presence of infectious agents, auto-antibodies or antigen-specific T-cells. Many autoinflammatory diseases are caused by monogenic defects, which lead to disturbed immune signalling with release of proinflammatory mediators. In addition to interleukin-1β and interleukin-18, interfero ...
Abstract
REVIEW
Dental Manifestations of Ehlers-Danlos Syndromes: A Systematic Review
Ines Kapferer-Seebacher, Dagmar Schnabl, Johannes Zschocke, F. Michael Pope
Ehlers-Danlos syndromes (EDS) are a group of inherited connective tissue disorders characterized by joint hypermobility, skin hyperextensibility, and variable tissue fragility. However, there are limited published data on the dental manifestations of EDS. This review systematically assessed the spectrum of published dental anomalies in various types of EDS. Twenty-four individual case reports/seri ...
Abstract
REVIEW
Legius Syndrome and its Relationship with Neurofibromatosis Type 1
Ellen Denayer, Eric Legius
Neurofibromatosis type 1 (NF1) is the most common disorder characterized by multiple café-au-lait macules. Most individuals with this autosomal dominant disorder also have other features, such as skinfold freckling, iris Lisch nodules and benign or malignant peripheral nerve sheath tumours. Legius syndrome is a less frequent autosomal dominant disorder with similar multiple café-au-lait macules ...
Abstract
REVIEW
Diagnosis and Management of Inherited Palmoplantar Keratodermas
Bjorn R. Thomas, Edel A. O'Toole
Inherited monogenic palmoplantar keratodermas are a heterogeneous group of conditions characterised by persistent epidermal thickening of the palmoplantar skin. Palmoplantar keratodermas are grouped depending on the morphology of the keratoderma into diffuse, focal/striate or papular/punctate. Some palmoplantar keratodermas just affect the skin of the palms and soles and others have associated syn ...
Abstract
REVIEW
Molecular Genetics of Keratinization Disorders - What’s New
Jouni Uitto, Leila Youssefian, Amir Hossein Saeidian, Hassan Vahidnezhad
The heritable forms of keratinization disorders, including various forms of ichthyosis and keratodermas, comprise a phenotypically heterogeneous group of diseases which can be divided into syndromic and non-syndromic forms. In the non-syndromic forms, the clinical manifestations are limited to the cutaneous structures while the syndromic ones are associated with a spectrum of extracutaneous manife ...
Abstract
REVIEW
Genetics of Inherited Ichthyoses and Related Diseases
Judith Fischer, Emmanuelle Bourrat
Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which are defined on the basis of clinical and genetic features and are mainly divided into non-syndromic and syndromic ichthyoses. Numerous genes, which encode for corresponding proteins, are involved in the normal differentiation of keratinocytes (cornification) and participate in the formation of a functional e ...
Abstract
REVIEW
Ichthyosis: A Road Model for Skin Research
Anders Vahlquist, Hans Törmä
The understanding of monogenetic disorders of cornification, including the group of diseases called ichthyoses, has expanded greatly in recent years. Studies of the aetiology of more than 50 types of ichthyosis have almost invariably uncovered errors in the biosynthesis of epidermal lipids or structural proteins essential for normal skin barrier function. The barrier abnormality per se may elicit ...
Abstract
QUIZ
A Family with Palmar and Plantar Hyperkeratosis: A Quiz
Hazem A. Juratli, Sabine Jägle, Rudolf Happle, Pinar Avci, Dario Didona, Judith Fischer
Abstract is missing (Quiz)
Abstract
SHORT COMMUNICATION
The p53 Signalling Pathway in Cutaneous Basal Cell Carcinoma: An Immunohistochemical Description
Shin-Taek Oh, Alexandra Stark, Joerg Reichrath
Abstract is missing (Short communication)
Abstract
SHORT COMMUNICATION
Prevalence of Pruritus in a Single Cohort of Long-term Kidney Transplant Recipients
Severin Schricker, Elke Weisshaar, Jörg Kupfer, Thomas Mettang
Abstract is missing (Short communication)
Abstract
CLINICAL REPORT
Patient Preferences in Adjuvant and Palliative Treatment of Advanced Melanoma: A Discrete Choice Experiment
Juliane Weilandt, Katharina Diehl, Marthe Lisa Schaarschmidt, Felix Kieker, Bianca Sasama, Melanie Pronk, Jan Ohletz, Andreas Könnecke, Verena Müller, Jochen Utikal, Uwe Hillen, Wolfgang Harth, Wiebke K. Peitsch
Treatment paradigms for advanced melanoma have changed fundamentally over recent years. A discrete choice experiment was performed to explore patient preferences regarding outcome (overall response rate, 2-year survival rate, progression-free survival, time to response, types of adverse event, probability of adverse event-related treatment discontinuation) and process attributes (frequency and rou ...
Abstract
SHORT COMMUNICATION
Do Not Judge a Book by its Cover: Masquerading as Keratoacanthoma
Aleksandra A. Stefaniak, Iwona Chlebicka, Piotr Krajewski, Zdzisław Woźniak, Jacek C. Szepietowski
Abstract is missing (Short communication)
Abstract
INVESTIGATIVE REPORT
Criteria Suggestive of Psychological Components of Itch and Soma­toform Itch: Study of a Large Sample of Patients with Chronic Pruritus
Gudrun Schneider, Anna Grebe, Philipp Bruland, Gereon Heuft, Sonja Ständer
While psychological factors are relevant in many patients with chronic pruritus, not all patients can be offered psychologic, psychosomatic or psychiatric consultation. The aim of this exploratory study was to identify criteria suggestive of psychological factors relevant for the etiology of chronic pruritus and of somatoform pruritus. Routine data from the database of the Center for Chronic Pruri ...
Abstract
SHORT COMMUNICATION
Herpetiform Manifestation of Primary Syphilis: A Case Series
Cecilie N. Larsen, Helle K. Larsen
Abstract is missing (Short communication)
Abstract
CLINICAL REPORT
Autoantibody Profile of a Cohort of 54 Italian Patients with Linear IgA Bullous Dermatosis: LAD-1 Denoted as a Major Auto-antigen of the Lamina Lucida Subtype
Emanuele Cozzani, Giovanni Di Zenzo, Giulia Gasparini, Adele Salemme, Arianna Fay Agnoletti, Camilla Vassallo, Marzia Caproni, Emiliano Antiga, Angelo V. Marzano, Riccardo Cavalli, Corrado Ocella, Clara De Simone, Aurora Parodi
Linear IgA bullous dermatosis (LABD) is characterized by presence of multiple IgA autoantibodies, and a comparatively lesser number of IgG antibodies, directed against different hemidesmosomal antigens. The main autoantigens are LAD-1, LABD-97, BP180 and BP230, type VII collagen and laminin 332. We retrospectively studied the serology of 54 Italian patients with LABD using enzyme-linked immunosorb ...
Abstract
CLINICAL REPORT
Sleep Disturbance in Patients with Urticaria and Atopic Dermatitis: An Underestimated Burden
Caroline Mann, Matthias Dreher, Hans-Günter Weeß, Petra Staubach
This study examined the relationship between insomnia and the frequent itching skin diseases, atopic dermatitis and chronic urticaria. Patients with chronic inflammatory dermatological diseases with pruritus were evaluated for insomnia (Insomnia Severity Index; ISI) and impairment in dermatological quality of life (Dermatology Life Quality Index; DLQI). Disease activity was measured using validate ...
Abstract
INVESTIGATIVE REPORT
“DLQI Seems to be ‘Action’, and Skindex-29 Seems to be ‘Emotion’”: Qualitative Study of the Perceptions of Patients with Psoriasis or Eczema on Two Common Dermatology-specific Quality of Life Measures
Priyamvada Paudyal, Christian Apfelbacher, Christina Jones, Sanna Siddiqui, Aisha El-Turki, Claudia DeGiovanni, Helen Smith
Little is known about which quality of life measure best captures the lived experience of people with a chronic skin condition. The purpose of this study was to explore patients’ views on the Dermatology Life Quality Index (DLQI) and Skindex-29. Participants were adults (n = 28) with a diagnosis of eczema or psoriasis who completed the DLQI and the Skindex-29 before being interviewed about t ...
Abstract
CLINICAL REPORT
Low-dose Methotrexate Treatment for Solitary or Localized Primary Cutaneous Anaplastic Large Cell Lymphoma: A Long-term Follow-up Study
Jong Bin Park, Myeong Hyeon Yang, Do Ik Kwon, Seol Hwa Seong, Ji Yun Jang, Kee Suck Suh, Min Soo Jang
Although low-dose methotrexate (MTX) has been used widely in treatment of a variety of dermatological diseases, including multifocal primary cutaneous anaplastic large cell lymphoma (PCALCL), it has not been established for use in the treatment guidelines for solitary or localized PCALCL. Furthermore, there has been no report of long-term follow-up data in Asian patients with PCALCL treated with l ...
Abstract
SHORT COMMUNICATION
Necrotic Arachnidism in Germany due to Bite of a Dysderidae Spider Probably Imported from South Tyrol, Italy
Alexander Zink, Alexandra Zink, Michael Gebhardt, Reinhard Engst, Johannes Ring
Abstract is missing (Short communication)
Abstract
CLINICAL REPORT
Patterns among Patients with Chronic Pruritus: A Retrospective Analysis of 170 Patients
Mathias Lehmann, Simone Cazzaniga, Dagmar Simon, Delphine L. Perruchoud, Luca Borradori, Anna Rammlmair
Chronic pruritus profoundly affects patients’ quality of life. The objective of this retrospective cross-sectional study was to characterize patients with chronic pruritus and identify patterns, in order to delineate a better diagnostic approach. Both semantic connectivity map and classical analysis were applied, linking demographic, clinical, laboratory and histopathological data with clinical ...
Abstract
SHORT COMMUNICATION
Amelanotic Melanoma Concealed by Psoriasis
Philip Curman, Jan Lapins, Niki Radros, Britta Krynitz, Jakob D. Wikström
Abstract is missing (Short communication)
Abstract
SHORT COMMUNICATION
Multiple Eruptive Pyogenic Granulomas on the Proximal Nail Folds Following Cast Immobilization: A Case Report with Nail Unit Ultrasound Findings
Daniel Lopez-Castillo, Laia Curto-Barredo, Júlia M. Sánchez-Schmidt, Ramon M. Pujol
Abstract is missing (Short communication)
Abstract
INVESTIGATIVE REPORT
Neutrophil Extracellular Traps are Present in Immune-complex-mediated Cutaneous Small Vessel Vasculitis and Correlate with the Production of Reactive Oxygen Species and the Severity of Vessel Damage
Christina Bergqvist, Rémi Safi, George El Hasbani, Ossama Abbas, Abdulghani Kibbi, Dany Nassar
Formation of neutrophil extracellular traps has been implicated in autoimmunity. However, the presence and clinical relevance of neutrophil extracellular traps in immune-complex-mediated cutaneous small and medium vessel vasculitides has not been investigated. This study retrospectively analysed 72 patients with histology-proven hypersensitivity vasculitis (n = 21), IgA vasculitis (n = 22) ...
Abstract
QUIZ
Bilateral Alopecia in a Six-year-old Boy: A Quiz
Sarah Ventéjou, Marie-Anne Morren, Kimberley George, Maxime Vernez, Daniel Hohl, Stephanie Christen-Zäch
Abstract is missing (Quiz)
Abstract
SHORT COMMUNICATION
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
Abstract is missing (Short communication)