Content - Volume 100, 100-year theme: Genodermatoses (March)

All articles

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 ...
Pages: 197-206
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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 ...
Pages: 186-196
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Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
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 ...
Pages: 177-185
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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 ...
Pages: 168-176
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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 ...
Pages: 161-167
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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 ...
Pages: 152-160
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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 ...
Pages: 140-151
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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 ...
Pages: 136-139
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Pages: 136-206
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