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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. Ectodermal dysplasias (ED) are a group of genetic conditions affecting the development and/or homeostasis of two or more ectodermal derivatives. An attenuated phenotype is considered a non-syndromic trait when...

    Authors: María Carmen Martínez-Romero, María Juliana Ballesta-Martínez, Vanesa López-González, María José Sánchez-Soler, Ana Teresa Serrano-Antón, María Barreda-Sánchez, Lidya Rodriguez-Peña, María Teresa Martínez-Menchon, José Frías-Iniesta, Paloma Sánchez-Pedreño, Pablo Carbonell-Meseguer, Guillermo Glover-López and Encarna Guillén-Navarro
    Citation: Orphanet Journal of Rare Diseases 2019 14:281
  2. Incontentia pigmenti (IP) is a rare multisystem disorder of ectodermal origin comprising skin, dental, ocular and central nervous system features. Symptomatic treatments are adapted to each family according to...

    Authors: Charles Taieb, Smail Hadj-Rabia, Jacques Monnet, Mohammed Bennani and Christine Bodemer
    Citation: Orphanet Journal of Rare Diseases 2019 14:271
  3. Segmental schwannomatosis is characterized by multiple schwannomas affecting one-limb or less than 5 contiguous segments of spine. Its characteristics are not well described in the literature. Our objective wa...

    Authors: Abdulqader Alaidarous, Beatrice Parfait, Salah Ferkal, Joëlle Cohen, Pierre Wolkenstein and Juliette Mazereeuw-Hautier
    Citation: Orphanet Journal of Rare Diseases 2019 14:207
  4. Kindler Syndrome (KS) is a rare genodermatosis characterized by skin fragility, skin atrophy, premature aging and poikiloderma. It is caused by mutations in the FERMT1 gene, which encodes kindlin-1, a protein ...

    Authors: Sara Guerrero-Aspizua, Claudio J. Conti, Maria Jose Escamez, Daniele Castiglia, Giovanna Zambruno, Leila Youssefian, Hassan Vahidnezhad, Luis Requena, Peter Itin, Gianluca Tadini, Ivelina Yordanova, Ludovic Martin, Jouni Uitto, Cristina Has and Marcela Del Rio
    Citation: Orphanet Journal of Rare Diseases 2019 14:183
  5. No study to date has followed disease progression in patients with neurofibromatosis type 1 (NF1), including the incidence of various manifestations, using a national registry. Here we examined the state of NF...

    Authors: Takashi Yamauchi, Machi Suka, Chikako Nishigori and Hiroyuki Yanagisawa
    Citation: Orphanet Journal of Rare Diseases 2019 14:166
  6. Epidermolysis Bullosa (EB) is a group of rare genetic disorders resulting in skin fragility and other symptoms. Commissioned by DEBRA International and funded by DEBRA Norway, this evidence-bases guideline pro...

    Authors: K. Martin, S. Geuens, J. K. Asche, R. Bodan, F. Browne, A. Downe, N. García García, G. Jaega, B. Kennedy, P. J. Mauritz, F. Pérez, K. Soon, V. Zmazek and K. M. Mayre-Chilton
    Citation: Orphanet Journal of Rare Diseases 2019 14:133
  7. The purpose of this article is to summarize the Dystrophic Epidermolysis Bullosa Research Association (DEBRA) International evidence-based Clinical Practice Guidelines (CPGs) for the provision of occupational ...

    Authors: Jennifer M. Chan, Amy Weisman, Alex King, Susan Maksomski, Carrissa Shotwell, Claire Bailie, Helen Weaver, Rebecca Bodan, Estrella Guerrero, Matija Zmazek and Phuong Khuu
    Citation: Orphanet Journal of Rare Diseases 2019 14:129
  8. Linear IgA bullous dermatosis (LABD) is a rare autoimmune subepithelial vesiculobullous disease due to IgA autoantibodies directed against different antigens of the basement membrane zone (BMZ) of the skin and...

    Authors: Giovanni Genovese, Luigia Venegoni, Daniele Fanoni, Simona Muratori, Emilio Berti and Angelo Valerio Marzano
    Citation: Orphanet Journal of Rare Diseases 2019 14:115
  9. Chanarin-Dorfman syndrome (CDS) is a rare syndromic disease related to an accumulation of triacylglycerol in most organs. The aim of our study was to investigate various organs in a large series of CDS patients.

    Authors: Nacim Louhichi, Emna Bahloul, Slaheddine Marrakchi, Houda Ben Othman, Chahnez Triki, Kawthar Aloulou, Lobna Trabelsi, Nadia Mahfouth, Zeineb Ayadi-Mnif, Leila Keskes, Faiza Fakhfakh and Hamida Turki
    Citation: Orphanet Journal of Rare Diseases 2019 14:112
  10. Neurofibromatosis Type 1 (NF1) is a common genetic neurocutaneous disease, with an autosomal dominant inheritance mode. Quality of life has been shown impaired in NF1, due to severe complications, cosmetic fea...

    Authors: Marie-Laure Armand, Charles Taieb, Aline Bourgeois, Mireille Bourlier, Mohammed Bennani, Christine Bodemer and Pierre Wolkenstein
    Citation: Orphanet Journal of Rare Diseases 2019 14:94
  11. Inherited ichthyoses belong to a large and heterogeneous group of mendelian disorders of cornification, and can be distinguished by the quality and distribution of scaling and hyperkeratosis, by other dermatol...

    Authors: Romana Borská, Blanka Pinková, Kamila Réblová, Hana Bučková, Lenka Kopečková, Jitka Němečková, Alena Puchmajerová, Marcela Malíková, Markéta Hermanová and Lenka Fajkusová
    Citation: Orphanet Journal of Rare Diseases 2019 14:92
  12. Netherton syndrome (NS) is a rare life-threatening syndrome caused by SPINK5 mutations leading to a skin barrier defect and a severe atopic diathesis. NS patients are prone to bacterial infections, but the unders...

    Authors: Elina Eränkö, Mette Ilander, Mirja Tuomiranta, Antti Mäkitie, Tea Lassila, Anna Kreutzman, Paula Klemetti, Satu Mustjoki, Katariina Hannula-Jouppi and Annamari Ranki
    Citation: Orphanet Journal of Rare Diseases 2018 13:213
  13. Generalized severe epidermolysis bullosa simplex (EBS-gen sev) is caused by mutations within either the KRT5 or KRT14 gene, phenotypically resulting in blistering and wounding of the skin and mucous membranes aft...

    Authors: Michael Ablinger, Thomas K. Felder, Monika Wimmer, Roland Zauner, Peter Hofbauer, Thomas Lettner, Martin Wolkersdorfer, Florian B. Lagler, Anja Diem, Johann W. Bauer and Verena Wally
    Citation: Orphanet Journal of Rare Diseases 2018 13:193
  14. Extensive and complex vascular malformations often cause chronic pain and severe functional restraint. Conventional treatments, such as surgery and/or sclerotherapy, are rarely curative, underscoring the great...

    Authors: Jennifer Hammer, Emmanuel Seront, Steven Duez, Sophie Dupont, An Van Damme, Sandra Schmitz, Claire Hoyoux, Caroline Chopinet, Philippe Clapuyt, Frank Hammer, Miikka Vikkula and Laurence M. Boon
    Citation: Orphanet Journal of Rare Diseases 2018 13:191
  15. IgA pemphigus is an exceedingly rare autoimmune blistering disorder, caused by IgA autoantibodies against desmosomal proteins. No treatment option has been found to be universally effective. The disease is oft...

    Authors: Franziska Schauer, Johannes Steffen Kern and Dimitra Kiritsi
    Citation: Orphanet Journal of Rare Diseases 2018 13:163
  16. Albinism comprises a group of autosomal recessive diseases that are characterized by poor vision and a variable hypopigmentation phenotype. A comprehensive literature review showed that no tool can assess the ...

    Authors: Fanny Morice-Picard, Charles Taïeb, Aurelie Marti, Antoine Gliksohn, Mohammed Bennani, Christine Bodemer and Khaled Ezzedine
    Citation: Orphanet Journal of Rare Diseases 2018 13:162
  17. 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
  18. 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
  19. 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
  20. 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
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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