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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.

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  1. Epidermolysis bullosa acquisita (EBA) is an orphan autoimmune disease. Several clinical phenotypes have been described, but subepidermal blistering is characteristic of all variants. Limited data on clinical a...

    Authors: Hiroaki Iwata, Artem Vorobyev, Hiroshi Koga, Andreas Recke, Detlef Zillikens, Catherine Prost-Squarcioni, Norito Ishii, Takashi Hashimoto and Ralf J. Ludwig

    Citation: Orphanet Journal of Rare Diseases 2018 13:153

    Content type: Research

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  2. Hereditary angioedema with C1 inhibitor deficiency (C1-INH-HAE) is a rare inherited disease. In most HAE-affected subjects, defined trigger factors precede angioedema attacks. Mechanisms of how trigger factors...

    Authors: Urs C. Steiner, Lea Kölliker, Christina Weber-Chrysochoou, Peter Schmid-Grendelmeier, Elsbeth Probst, Walter A. Wuillemin and Arthur Helbling

    Citation: Orphanet Journal of Rare Diseases 2018 13:90

    Content type: Research

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  3. Epidermolysis bullosa (EB) and autoimmune blistering diseases (AIBD) describe a group of rare chronic dermatoses characterized by cutaneous fragility and blistering. Although uncommon, significant ocular surfa...

    Authors: Brendon W. H. Lee, Jeremy C. K. Tan, Melissa Radjenovic, Minas T. Coroneo and Dedee F. Murrell

    Citation: Orphanet Journal of Rare Diseases 2018 13:83

    Content type: Review

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  4. Epidermal necrolysis (EN) encompasses Stevens-Johnson syndrome (SJS, < 10% of the skin affected), Lyell syndrome (toxic epidermal necrolysis, TEN, with ≥30% of the skin affected) and an overlap syndrome (10 to...

    Authors: Saskia Ingen-Housz-Oro, Tu-Anh Duong, Benoit Bensaid, Nathalia Bellon, Nicolas de Prost, Dévy Lu, Bénédicte Lebrun-Vignes, Julie Gueudry, Emilie Bequignon, Karim Zaghbib, Gérard Royer, Audrey Colin, Giao Do-Pham, Christine Bodemer, Nicolas Ortonne, Annick Barbaud…

    Citation: Orphanet Journal of Rare Diseases 2018 13:56

    Content type: Position statement

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  5. Acitretin is the main retinoid used to treat severe inherited ichthyosis. Alternatives may be considered if it results ineffective or there are side-effects, or for women of childbearing age.

    Authors: Giuliana Onnis, Christine Chiaverini, Geoffroy Hickman, Isabelle Dreyfus, Judith Fischer, Emmanuelle Bourrat and Juliette Mazereeuw-Hautier

    Citation: Orphanet Journal of Rare Diseases 2018 13:46

    Content type: Research

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  6. Pigmentary mosaicism is a term that describes varied patterns of pigmentation in the skin caused by genetic heterogeneity of the skin cells. In a substantial number of cases, pigmentary mosaicism is observed a...

    Authors: Anna Boye Kromann, Lilian Bomme Ousager, Inas Kamal Mohammad Ali, Nurcan Aydemir and Anette Bygum

    Citation: Orphanet Journal of Rare Diseases 2018 13:39

    Content type: Review

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  7. Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by a predisposition to develop multiple benign tumors. A major feature of NF1 is the development of localized cutaneous neurofibromas. Cutaneo...

    Authors: Ashley Cannon, Mei-Jan Chen, Peng Li, Kevin P. Boyd, Amy Theos, David T. Redden and Bruce Korf

    Citation: Orphanet Journal of Rare Diseases 2018 13:31

    Content type: Research

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  8. Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular sy...

    Authors: Jussi Leppävirta, Roope A. Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen and Sirkku Peltonen

    Citation: Orphanet Journal of Rare Diseases 2018 13:5

    Content type: Research

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  9. Health Related Quality of Life (HR-QoL) Patient reported outcome measures (PROMs) have high utility in evaluation of new interventions in genodermatoses, however inconsistent standards of development and valid...

    Authors: John W. Frew, Mark Davidson and Dedee F. Murrell

    Citation: Orphanet Journal of Rare Diseases 2017 12:189

    Content type: Review

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  10. A differential diagnosis must be made between transient yellow discoloration of the nails and yellow nail syndrome. We highlight some practical aspects of yellow nail discoloration.

    Authors: Anca Chiriac, Adrian Naznean, Cristian Podoleanu and Simona Stolnicu

    Citation: Orphanet Journal of Rare Diseases 2017 12:159

    Content type: Letter to the Editor

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  11. A localized form of epidermolysis bullosa simplex (EBS-l) is considered one of the mildest forms of epidermolysis bullosa (EB), with blisters limited to the palms and soles. However, these lesions can be very ...

    Authors: Jennifer Brun, Christine Chiaverini, Caroline Devos, Stéphanie Leclerc-Mercier, Juliette Mazereeuw, Emmanuelle Bourrat, Annabel Maruani, Stéphanie Mallet, Claire Abasq, Alice Phan, Pierre Vabres, Ludovic Martin, Christine Bodemer, Sylvie Lagrange and Jean-Philippe Lacour

    Citation: Orphanet Journal of Rare Diseases 2017 12:119

    Content type: Research

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  12. Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that ...

    Authors: Dominique P. Germain

    Citation: Orphanet Journal of Rare Diseases 2017 12:85

    Content type: Review

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  13. 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...

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

    Citation: Orphanet Journal of Rare Diseases 2017 12:55

    Content type: Research

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  14. 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...

    Authors: Stéphane Vignes and Robert Baran

    Citation: Orphanet Journal of Rare Diseases 2017 12:42

    Content type: Review

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  16. 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...

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

    Citation: Orphanet Journal of Rare Diseases 2016 11:156

    Content type: Letter to the Editor

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  17. 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...

    Authors: William Davies

    Citation: Orphanet Journal of Rare Diseases 2016 11:151

    Content type: Letter to the Editor

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  18. 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...

    Authors: 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

    Citation: Orphanet Journal of Rare Diseases 2016 11:136

    Content type: Research

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  19. 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...

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

    Citation: Orphanet Journal of Rare Diseases 2016 11:120

    Content type: Research

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  20. Inherited epidermolysis bullosa (EB) comprises a highly heterogeneous group of rare diseases characterized by exacerbated skin and/or mucosal fragility and blister formation after minor mechanical trauma. Leve...

    Authors: H. Montaudié, C. Chiaverini, E. Sbidian, A. Charlesworth and J-P. Lacour

    Citation: Orphanet Journal of Rare Diseases 2016 11:117

    Content type: Review

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  21. 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...

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

    Citation: Orphanet Journal of Rare Diseases 2016 11:35

    Content type: Research

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  22. 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 ...

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

    Citation: Orphanet Journal of Rare Diseases 2016 11:31

    Content type: Letter to the Editor

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  23. 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...

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

    Citation: Orphanet Journal of Rare Diseases 2016 11:4

    Content type: Research

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  24. 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...

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

    Citation: Orphanet Journal of Rare Diseases 2015 10:115

    Content type: Review

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  25. 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...

    Authors: 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

    Citation: Orphanet Journal of Rare Diseases 2014 9:211

    Content type: Research

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  26. 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...

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

    Citation: Orphanet Journal of Rare Diseases 2014 9:185

    Content type: Research

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172

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