Rare skin diseases

This section publishes translational and clinical research on a broad range of rare diseases (primarily genetic but also autoimmune, inflammatory, and infectious), characterized by the predominant involvement of skin and adnexa. Topics of interest range from research on disease aetiology, pathogenetic mechanisms, and disease modifiers, to studies on epidemiologic and diagnostic aspects of single disorders or disease groups, analyses of natural disease course, and descriptions of novel clinical features. A major focus is on all aspects of patient care, and particularly on recommendations for patient management. Review articles on specific diseases or disease groups are welcome.

  1. Research

    Clinical characteristics and real-life diagnostic approaches in all Danish children with hereditary angioedema

    With a potentially early onset, hereditary angioedema (HAE) requires special knowledge also in infancy and early childhood. In children from families with HAE, the diagnosis should be confirmed or refuted earl...

    Anne Aabom, Klaus E. Andersen, Christina Fagerberg, Niels Fisker, Marianne A. Jakobsen and Anette Bygum

    Orphanet Journal of Rare Diseases 2017 12:55

    Published on: 16 March 2017

  2. Review

    Yellow nail syndrome: a review

    Yellow nail syndrome (YNS; OMIM 153300, ORPHA662) is a very rare disorder that almost always occurs after 50 years of age but a juvenile or familial form has also been observed. YNS is diagnosed based on a tri...

    Stéphane Vignes and Robert Baran

    Orphanet Journal of Rare Diseases 2017 12:42

    Published on: 27 February 2017

  3. Letter to the Editor

    Symmetrical acrokeratoderma: a case series in Indian patients

    Symmetrical acrokeratoderma is a recently described dermatosis in young adult males of Chinese descent. In this report, we describe a series of five cases of symmetrical acrokeratoderma from India. All 5 patie...

    Keshavamurthy Vinay, Gitesh U. Sawatkar, Uma N. Saikia and Sunil Dogra

    Orphanet Journal of Rare Diseases 2016 11:156

    Published on: 22 November 2016

  4. Letter to the Editor

    Insights into rare diseases from social media surveys

    The internet, and social media platforms, are increasingly being used by substantial sectors of the worldwide population. By engaging effectively with online and social media, scientists and clinicians can obt...

    William Davies

    Orphanet Journal of Rare Diseases 2016 11:151

    Published on: 9 November 2016

  5. Research

    Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations

    Integrin α3 (ITGA3) gene mutations are associated with Interstitial Lung disease, Nephrotic syndrome and Epidermolysis bullosa (ILNEB syndrome). To date only six patients are reported: all carried homozygous ITGA...

    Elisa Adele Colombo, Luigina Spaccini, Ludovica Volpi, Gloria Negri, Davide Cittaro, Dejan Lazarevic, Salvatore Zirpoli, Andrea Farolfi, Cristina Gervasini, Maria Vittoria Cubellis and Lidia Larizza

    Orphanet Journal of Rare Diseases 2016 11:136

    Published on: 7 October 2016

  6. Research

    Safety and efficacy of vismodegib in patients with basal cell carcinoma nevus syndrome: pooled analysis of two trials

    Aberrant activation of the Hedgehog (Hh) pathway is a key driver in the pathogenesis of basal cell carcinomas (BCCs), including patients with BCC nevus syndrome (BCCNS). It is unclear whether BCCs arising in p...

    Anne Lynn S. Chang, Sarah T. Arron, Michael R. Migden, James A. Solomon, Simon Yoo, Bann-Mo Day, Edward F. McKenna and Aleksandar Sekulic

    Orphanet Journal of Rare Diseases 2016 11:120

    Published on: 1 September 2016

  7. Research

    POEMS syndrome and calciphylaxis: an unrecognized cause of abnormal small vessel calcification

    Calciphylaxis is a syndrome consisting of vascular calcification, thrombosis, and skin necrosis. The syndrome develops often in chronic hemodialysis patients. However, there have been several case reports on c...

    Nobuyuki Araki, Sonoko Misawa, Kazumoto Shibuya, Satoshi Ota, Takashi Oide, Asuka Kawano, Minako Beppu, Yukio Nakatani and Satoshi Kuwabara

    Orphanet Journal of Rare Diseases 2016 11:35

    Published on: 12 April 2016

  8. Letter to the Editor

    Oral epigallocatechin-3-gallate for treatment of dystrophic epidermolysis bullosa: a multicentre, randomized, crossover, double-blind, placebo-controlled clinical trial

    Recessive dystrophic epidermolysis bullosa (RDEB) is a rare genodermatosis with severe blistering. No curative treatment is available. Scientific data indicated that epigallocatechin-3-gallate (EGCG), a green ...

    Christine Chiaverini, Coralie Roger, Eric Fontas, Emmanuelle Bourrat, Eva Bourdon-Lanoy, Christine Labrèze, Juliette Mazereeuw, Pierre Vabres, Christine Bodemer and Jean-Philippe Lacour

    Orphanet Journal of Rare Diseases 2016 11:31

    Published on: 25 March 2016

  9. Research

    Role of molecular testing in the multidisciplinary diagnostic approach of ichthyosis

    The term ichthyosis describes a generalized disorder of cornification characterized by scaling and/or hyperkeratosis of different skin regions. Mutations in a broad group of genes related to keratinocyte diffe...

    Andrea Diociaiuti, May El Hachem, Elisa Pisaneschi, Simona Giancristoforo, Silvia Genovese, Pietro Sirleto, Renata Boldrini and Adriano Angioni

    Orphanet Journal of Rare Diseases 2016 11:4

    Published on: 13 January 2016

  10. Review

    Ichthyosis with confetti: clinics, molecular genetics and management

    Ichthyosis with confetti (IWC) is an autosomal dominant congenital ichthyosis also known as ichthyosis variegata or congenital reticular ichthyosiform erythroderma. It manifests at birth with generalized ichth...

    Liliana Guerra, Andrea Diociaiuti, May El Hachem, Daniele Castiglia and Giovanna Zambruno

    Orphanet Journal of Rare Diseases 2015 10:115

    Published on: 17 September 2015

  11. Research

    Oxidative stress and mitochondrial dysfunction in Kindler syndrome

    Kindler Syndrome (KS) is an autosomal recessive skin disorder characterized by skin blistering, photosensitivity, premature aging, and propensity to skin cancer. In spite of the knowledge underlying cause of t...

    Elisabeth Zapatero-Solana, Jose Luis García-Giménez, Sara Guerrero-Aspizua, Marta García, Agustí Toll, Eulalia Baselga, Maria Durán-Moreno, Jelena Markovic, Jose Manuel García-Verdugo, Claudio J Conti, Cristina Has, Fernando Larcher, Federico V Pallardó and Marcela Del Rio

    Orphanet Journal of Rare Diseases 2014 9:211

    Published on: 21 December 2014

  12. Research

    Bullous pemphigoid in infants: characteristics, diagnosis and treatment

    Bullous pemphigoid (BP) in infants is a rare but increasingly reported autoimmune blistering skin disease. Autoantibody reactivity is usually poorly characterized. Current guidelines do not address specific as...

    Agnes Schwieger-Briel, Cornelia Moellmann, Birgit Mattulat, Franziska Schauer, Dimitra Kiritsi, Enno Schmidt, Cassian Sitaru, Hagen Ott and Johannes S Kern

    Orphanet Journal of Rare Diseases 2014 9:185

    Published on: 10 December 2014

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