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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 (EB) causes blistering and scarring of the hands resulting in contractures fused web spaces and altered function. Surgery is needed to release contractures and web spaces and hand therapy...

    Authors: Rachel Box, Catina Bernardis, Alexander Pleshkov, Nicky Jessop, Catherine Miller, Jennifer Skye, Virginia O’Brien, Matthew Veerkamp, Anna Carolina Ferreira da Rocha and Roger Cornwall
    Citation: Orphanet Journal of Rare Diseases 2022 17:406
  2. Recessive dystrophic epidermolysis bullosa (RDEB) is a rare, devastating blistering genodermatosis caused by mutations in the COL7A1 gene, which encodes for type VII collagen and is necessary for dermal-epidermal...

    Authors: Jodi Y. So, Jaron Nazaroff, Chinonso V. Iwummadu, Nicki Harris, Emily S. Gorell, Shivali Fulchand, Irene Bailey, Daniel McCarthy, Zurab Siprashvili, M. Peter Marinkovich, Jean Y. Tang and Albert S. Chiou
    Citation: Orphanet Journal of Rare Diseases 2022 17:377
  3. Dystrophic epidermolysis bullosa (DEB) is a serious, ultra-rare, genetic blistering disease that requires a multidisciplinary care team and lifelong, proactive disease management. To organize and optimize care...

    Authors: James A. Feinstein, Anna L. Bruckner, Benjamin Chastek, Amy Anderson and Juan Roman
    Citation: Orphanet Journal of Rare Diseases 2022 17:367
  4. Facial angiofibroma is the most predominant cutaneous manifestation of tuberous sclerosis complex (TSC), a rare autosomal dominant genetic disorder impacting the mechanistic target of rapamycin (mTOR). Facial ...

    Authors: Sreedevi Boggarapu, Steven L. Roberds, JoAnne Nakagawa and Eric Beresford
    Citation: Orphanet Journal of Rare Diseases 2022 17:355
  5. Dystrophic epidermolysis bullosa (EB) is a family of rare genetic dermatological conditions. Recent evidence indicated that in addition to its detrimental implications on patient health-related quality of life...

    Authors: A. Angelis, J. E. Mellerio and P. Kanavos
    Citation: Orphanet Journal of Rare Diseases 2022 17:346
  6. Standardized assessments for dystrophic epidermolysis bullosa (DEB) are needed. This prospective, multicenter, 4-week, observational study was designed to evaluate DEB assessments for suitability as clinical t...

    Authors: Amy S. Paller, Elena Pope, Dan Rudin, Anna Malyala, Deborah Ramsdell, Ramsey Johnson, Hal Landy and Dedee F. Murrell
    Citation: Orphanet Journal of Rare Diseases 2022 17:314
  7. Epidermolysis bullosa is a rare, often severe, genetic disorder characterized by fragility of the skin and mucous membranes. Despite the important role of parents during wound care, an essential factor in adap...

    Authors: Petra J. Mauritz, Marieke Bolling, José C. Duipmans and Mariët Hagedoorn
    Citation: Orphanet Journal of Rare Diseases 2022 17:313
  8. The Hermansky–Pudlak syndrome (HPS) is a genetically heterogeneous group of diseases characterized by oculocutaneous albinism, bleeding diathesis, and systemic complications. It is the most common genetic diso...

    Authors: Gabriel Santos Malave, Natalio J. Izquierdo and Nestor P. Sanchez
    Citation: Orphanet Journal of Rare Diseases 2022 17:305
  9. Secreted R-spondin (RSPO) proteins play a key role in reproductive organ development, epithelial stem cell renewal and cancer induction by reinforcing canonical Wnt signaling. We have previously reported that ...

    Authors: Elena Dellambra, Sonia Cordisco, Francesca Delle Monache, Sergio Bondanza, Massimo Teson, Ezio Maria Nicodemi, Biagio Didona, Angelo Giuseppe Condorelli, Giovanna Camerino, Daniele Castiglia and Liliana Guerra
    Citation: Orphanet Journal of Rare Diseases 2022 17:275
  10. Epidermolysis bullosa simplex (EBS) comprises a group of rare, blistering genodermatoses. Prior work has been limited by small sample sizes, and much remains unexplored about the disease burden and health-rela...

    Authors: Jodi Y. So, Shivali Fulchand, Christine Y. Wong, Shufeng Li, Jaron Nazaroff, Emily S. Gorell, Mark P. de Souza, Dedee F. Murrell, Joyce M. Teng, Albert S. Chiou and Jean Y. Tang
    Citation: Orphanet Journal of Rare Diseases 2022 17:270
  11. Ichthyosis covers a wide spectrum of diseases affecting the cornification of the skin. In recent years, new advances in understanding the pathophysiology of ichthyosis have been made. This knowledge, combined ...

    Authors: M. D. W. Joosten, J. M. K. Clabbers, N. Jonca, J. Mazereeuw-Hautier and A. H. Gostyński
    Citation: Orphanet Journal of Rare Diseases 2022 17:269
  12. Neurofibromatosis type 2 (NF2) is characterized by bilateral vestibular schwannoma (VS) more often in adults but a severe paediatric form with multiple neurological tumours is also described. In this populatio...

    Authors: S. Legoupil, D. Bessis, F. Picard, S. Mallet, J. Mazereeuw, A. Phan, D. Dupin-Deguine, M. Kalamarides and C. Chiaverini
    Citation: Orphanet Journal of Rare Diseases 2022 17:242
  13. Lymphatic malformations (LMs) represent a potentially life-threatening, rare disease of the lymphatic system characterized by development of abnormal vessels, outpouchings, or cysts filled with lymphatic fluid...

    Authors: Jack Ray Gallagher, J. Martini, S. Carroll, A. Small and J. Teng
    Citation: Orphanet Journal of Rare Diseases 2022 17:192
  14. PROS disorders are driven by somatic, gain-of-function mutations in PIK3CA that result in hyperactivation of the phosphatidylinositol-3-kinase (PI3K) signaling pathway. PROS encompasses a broad spectrum of overla...

    Authors: Lara Rodríguez-Laguna, Kristen Davis, Mellenee Finger, Dawn Aubel, Robin Vlamis and Craig Johnson
    Citation: Orphanet Journal of Rare Diseases 2022 17:189
  15. Epidermolysis bullosa (EB) is a severe hereditary disease characterized by defective epithelial adhesion causing mucocutaneous fragility. The major types are EB simplex (EBS), junctional EB (JEB), dystrophic E...

    Authors: Maria Rosaria Marchili, Giulia Spina, Marco Roversi, Cristina Mascolo, Elisabetta Pentimalli, Marialuisa Corbeddu, Andrea Diociaiuti, Maya El Hachem and Alberto Villani
    Citation: Orphanet Journal of Rare Diseases 2022 17:147
  16. Even though a plethora of systemic therapies have been proposed for necrobiotic xanthogranuloma (NXG), there is no systematic review on this topic in literature.

    Authors: Lisa Steinhelfer, Thomas Kühnel, Herbert Jägle, Stephanie Mayer, Sigrid Karrer, Frank Haubner and Stephan Schreml
    Citation: Orphanet Journal of Rare Diseases 2022 17:132
  17. Xeroderma pigmentosum (XP) is a rare, autosomal, recessive DNA repair-deficiency disorder with a frequency of 1–3 per million livebirths in Europe and USA but with higher frequencies in isolated islands or in ...

    Authors: Sergey Nikolaev, Andrey A. Yurchenko and Alain Sarasin
    Citation: Orphanet Journal of Rare Diseases 2022 17:104
  18. A congenital melanocytic naevus (CMN) is a rare skin condition that can be associated with abnormalities of the central nervous system (CNS). These anomalies can sometimes cause severe complications, and rarel...

    Authors: Anne C. Fledderus, Anna Linn Widdershoven, Oren Lapid, Corstiaan C. Breugem, Suzanne G. M. A. Pasmans, Chantal M. A. M. van der Horst, Marc M. Engelen and Phyllis I. Spuls
    Citation: Orphanet Journal of Rare Diseases 2022 17:95
  19. The generic 36-item Short-Form Health Survey (SF-36v2) has been used to assess health related quality of life in adult patients with hereditary angioedema due to C1-inhibitor deficiency (C1-INH-HAE) even thoug...

    Authors: Paola Palao-Ocharan, Nieves Prior, Elia Pérez-Fernández, Magdalena Caminoa and Teresa Caballero
    Citation: Orphanet Journal of Rare Diseases 2022 17:88
  20. Wound management is a critical factor when treating patients with the inherited skin fragility disease dystrophic epidermolysis bullosa (DEB). Due to genetic defects in structural proteins, skin and mucous epi...

    Authors: Christina Guttmann-Gruber, Josefina Piñón Hofbauer, Birgit Tockner, Victoria Reichl, Alfred Klausegger, Peter Hofbauer, Martin Wolkersdorfer, Khek-Chian Tham, Seong Soo Lim, John E. Common, Anja Diem, Katharina Ude-Schoder, Wolfgang Hitzl, Florian Lagler, Julia Reichelt, Johann W. Bauer…
    Citation: Orphanet Journal of Rare Diseases 2021 16:473
  21. Autosomal recessive congenital ichthyoses (ARCI) are a genetically heterogeneous group of rare and chronic disorders characterized by generalized skin scaling and hyperkeratosis, erythroderma, and palmoplantar...

    Authors: Damiano Abeni, Roberta Rotunno, Andrea Diociaiuti, Simona Giancristoforo, Domenico Bonamonte, Carmelo Schepis, Iria Neri, Daniele Castiglia, Giovanna Zambruno and May El Hachem
    Citation: Orphanet Journal of Rare Diseases 2021 16:440
  22. Epidermolysis bullosa (EB) is characterized by skin fragility with blister formation occurring spontaneously or following minor trauma such as gentle pressure or friction. Current physiotherapy practice is bas...

    Authors: Amy Weisman, Jennifer M. Chan, Chantal LaPointe, Kaye Sjoholm, Kristy Steinau, Kaycie Artus, Suci Widhiati, Rebecca Bodan, Michelle Wood, Julio C. Salas-Alanis, Anna Carolina Rocha, Beata Faitli and Phuong Khuu
    Citation: Orphanet Journal of Rare Diseases 2021 16:406
  23. Epidermolysis bullosa (EB) patient anecdotes and case reports indicate that cannabinoid-based medicines (CBMs) may alleviate pain and pruritus and improve wound healing. CBM use has not been characterized in t...

    Authors: Nicholas H. B. Schräder, Emily S. Gorell, Roy E. Stewart, José C. Duipmans, Nicole Harris, Victoria A. Perez, Jean Y. Tang, André P. Wolff and Marieke C. Bolling
    Citation: Orphanet Journal of Rare Diseases 2021 16:377
  24. Hypohidrotic ectodermal dysplasia (HED) is a group of genodermatoses in which deficient ectodysplasin A signalling leads to maldevelopment of skin appendages, various eccrine glands, and teeth. Individuals wit...

    Authors: Verena Hennig, Wolfgang Schuh, Antje Neubert, Dirk Mielenz, Hans-Martin Jäck and Holm Schneider
    Citation: Orphanet Journal of Rare Diseases 2021 16:373
  25. Health care transition (i.e., transition from pediatric to adult care) is challenging in chronic conditions but has been poorly studied in rare chronic skin diseases. We investigated the proportion of lost to ...

    Authors: Camille Vermersch, Olivia Boccara, Christine Chiaverini, Juliette Mazereeuw-Hautier, Nina Sigg, Stéphanie Mallet, Pierre Vabres, Denis Herbreteau, Anne Le Touze, Annabel Maruani and Sophie Leducq
    Citation: Orphanet Journal of Rare Diseases 2021 16:352
  26. Tuberous sclerosis complex (TSC) is an autosomal dominant disease with systemic manifestations, which can cause significant mortality and morbidity. Population-based epidemiological studies on TSC mortality an...

    Authors: Jui-Hui Peng, Hung-Pin Tu and Chien-Hui Hong
    Citation: Orphanet Journal of Rare Diseases 2021 16:335
  27. PIK3CA-related disorders include vascular malformations and overgrowth of various tissues that are caused by postzygotic, somatic variants in the gene encoding phosphatidylinositol-3-kinase (PI3K) catalytic subun...

    Authors: Guillaume Canaud, Adrienne M. Hammill, Denise Adams, Miikka Vikkula and Kim M. Keppler-Noreuil
    Citation: Orphanet Journal of Rare Diseases 2021 16:306
  28. Bullous pemphigoid (BP) is the most common autoimmune skin blistering disease characterized by autoimmunity against the hemidesmosomal proteins BP180, type XVII collagen, and BP230. To elucidate the genetic ba...

    Authors: Christian Schwarm, Damian Gola, Maike M. Holtsche, Anabelle Dieterich, Anita Bhandari, Miriam Freitag, Peter Nürnberg, Mohammad Toliat, Wolfgang Lieb, Michael Wittig, André Franke, Margitta Worm, Michael Sticherling, Jan Ehrchen, Claudia Günther, Regine Gläser…
    Citation: Orphanet Journal of Rare Diseases 2021 16:228
  29. Degos disease is a rare vascular disorder with a cutaneous-limited form, benign atrophic papulosis (BAP), and a systemic variant, malignant atrophic papulosis (MAP). Despite the poor prognosis of MAP, no study...

    Authors: Justin D. Lu, Muskaan Sachdeva, Orli M. Silverberg, Lee Shapiro, David Croitoru and Rebecca Levy
    Citation: Orphanet Journal of Rare Diseases 2021 16:203
  30. Recessive dystrophic epidermolysis bullosa (RDEB) is a genetic collagen disorder characterized by skin fragility leading to blistering, wounds, and scarring. There are currently no approved curative therapies....

    Authors: Jean Yuh Tang, M. Peter Marinkovich, Eleanor Lucas, Emily Gorell, Albert Chiou, Ying Lu, Jodie Gillon, Dipen Patel and Dan Rudin
    Citation: Orphanet Journal of Rare Diseases 2021 16:175
  31. Extramammary Paget’s disease (EMPD) is an intraepithelial adenocarcinoma. The chronic relapsing clinical course and unbearable clinical symptoms of extramammary Paget’s disease usually result in a markedly dim...

    Authors: Shilu Yin, Lu Xu, Shengfeng Wang, Jingnan Feng, Lili Liu, Guozhen Liu, Jinxi Wang, Siyan Zhan, Zhenmin Zhao and Pei Gao
    Citation: Orphanet Journal of Rare Diseases 2021 16:134
  32. PIK3CA-related overgrowth spectrum (PROS) refers to a group of rare disorders, caused by somatic activating mutations in PIK3CA, resulting in abnormal PI3K-AKT-mTOR pathway signalling. Significant associated m...

    Authors: Karina Forde, Nicoletta Resta, Carlotta Ranieri, David Rea, Olga Kubassova, Mark Hinton, Katrina A. Andrews, Robert Semple, Alan D. Irvine and Veronika Dvorakova
    Citation: Orphanet Journal of Rare Diseases 2021 16:109
  33. X-linked hypohidrotic ectodermal dysplasia (XLHED), a rare genetic disorder, affects the normal development of ectodermal derivatives, such as hair, skin, teeth, and sweat glands. It is caused by pathogenic va...

    Authors: Laura Körber, Holm Schneider, Nicole Fleischer and Sigrun Maier-Wohlfart
    Citation: Orphanet Journal of Rare Diseases 2021 16:98
  34. Hereditary angioedema (HAE) is a rare, debilitating, genetic disease characterized by unpredictable, recurrent, and potentially fatal swelling of the skin and mucous membranes. We conducted a noninterventional...

    Authors: Joan Mendivil, Ryan Murphy, Marie de la Cruz, Ellen Janssen, Henrik Balle Boysen, Gagan Jain, Emel Aygören-Pürsün, Ishan Hirji and Giovanna Devercelli
    Citation: Orphanet Journal of Rare Diseases 2021 16:94
  35. Patients with Hailey-Hailey and Darier diseases present with disabling inflammatory lesions located in large skin folds, which are often exacerbated or induced by sweating. Quality of life is highly impaired b...

    Authors: Isabelle Dreyfus, Aude Maza, Lauriane Rodriguez, Margot Merlos, Hélène Texier, Vanessa Rousseau, Agnès Sommet and Juliette Mazereeuw-Hautier
    Citation: Orphanet Journal of Rare Diseases 2021 16:93
  36. Epidermolysis bullosa (EB) is a group of rare genetic skin disorders that primarily manifest as blisters and erosions following mild mechanical trauma. Despite the crucial role of the parents of children with ...

    Authors: Petra J. Mauritz, Marieke Bolling, José C. Duipmans and Mariët Hagedoorn
    Citation: Orphanet Journal of Rare Diseases 2021 16:53
  37. Epidermolysis bullosa (EB) comprises a heterogeneous group of rare genetic diseases associated with skin blistering caused by minimal trauma. A major and common EB subtype, recessive dystrophic EB (RDEB), is c...

    Authors: Fedele Lembo, Domenico Parisi, Liberato Roberto Cecchino, Francesco Ciancio, Alessandro Innocenti and Aurelio Portincasa
    Citation: Orphanet Journal of Rare Diseases 2021 16:52
  38. FBLN5-related cutis laxa (CL) is a rare disorder that involves elastic fiber-enriched tissues and is characterized by lax skin and variable systemic involvement such as pulmonary emphysema, arterial involvement, ...

    Authors: Jalal Gharesouran, Hassan Hosseinzadeh, Soudeh Ghafouri-Fard, Yalda Jabbari Moghadam, Javad Ahmadian Heris, Amir Hossein Jafari-Rouhi, Mohammad Taheri and Maryam Rezazadeh
    Citation: Orphanet Journal of Rare Diseases 2021 16:51
  39. Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic pain. The diagnosis requires the presence of several schwanno...

    Authors: I. Gallais Sérézal, S. Ferkal, L. Lerman, S. Mulé, B. Funalot and P. Wolkenstein
    Citation: Orphanet Journal of Rare Diseases 2021 16:49
  40. Fibrosarcomatous dermatofibrosarcoma protuberans (FS-DFSP) is a form of tumor progression of dermatofibrosarcoma protuberans (DFSP) with an increased risk of metastasis and recurrence. Few studies have compare...

    Authors: Yanan Li, Jiaqi Liang, Xuewen Xu, Xian Jiang, Chuan Wang, Siyuan Chen, Bo Xiang and Yi Ji
    Citation: Orphanet Journal of Rare Diseases 2021 16:48
  41. Hereditary leiomyomatosis and renal cell carcinoma (HLRCC) is a rare genodermatosis characterized by cutaneous leiomyoma (CLM), uterine leiomyoma (ULM) and renal cell carcinoma (RCC). Five HLRCC patients are p...

    Authors: Zahraa Chayed, Lone Krøldrup Kristensen, Lilian Bomme Ousager, Karina Rønlund and Anette Bygum
    Citation: Orphanet Journal of Rare Diseases 2021 16:34
  42. This article presents evidence-based Clinical Practice Guidelines (CPG) for the provision of healthcare services to address sexuality for people living with epidermolysis bullosa (EB). Currently, a lack of EB-...

    Authors: Alex King, Humphrey Hanley, Mark Popenhagen, Florencia Perez, Kerry Thompson, Diana Purvis, Nora Garcia, Ida Steinlein, Mia Werkentoft, Matthew Lightfoot, Michelle Lahat, Kalsoom Begum and Julio Tanabe
    Citation: Orphanet Journal of Rare Diseases 2021 16:9
  43. Aplasia cutis congenita (ACC) in patients with hereditary epidermolysis bullosa (EB) is often associated with major pain. We report our experience with using topical ropivacaine during dressing in newborns wit...

    Authors: A. Chambelland, C. Devos, F. Casagrande and C. Chiaverini
    Citation: Orphanet Journal of Rare Diseases 2020 15:338
  44. Hereditary epidermolysis bullosa (EB) comprises a heterogeneous group of rare genodermatoses, which are caused by mutations in genes involved in the maintenance of the structural and functional integrity of de...

    Authors: Verena Wally, Manuela Reisenberger, Sophie Kitzmüller and Martin Laimer
    Citation: Orphanet Journal of Rare Diseases 2020 15:292
  45. Hereditary angioedema (HAE) with normal C1 inhibitor (C1-INH) (HAEnCI) is associated with skin swellings, abdominal attacks, and the risk of asphyxia due to upper airway obstruction. Several different gene mut...

    Authors: Konrad Bork, Thomas Machnig, Karin Wulff, Guenther Witzke, Subhransu Prusty and Jochen Hardt
    Citation: Orphanet Journal of Rare Diseases 2020 15:289
  46. Stevens-Johnson Syndrome (SJS) and toxic epidermal necrolysis (TEN) can lead to severe ophthalmologic sequelae. The main risk factor is the severity of the initial ocular involvement. There are no recommendati...

    Authors: D. Thorel, S. Ingen-Housz-Oro, G. Royer, A. Delcampe, N. Bellon, C. Bodemer, A. Welfringer-Morin, D. Bremond-Gignac, M. P. Robert, M. Tauber, F. Malecaze, O. Dereure, V. Daien, A. Colin, C. Bernier, C. Couret…
    Citation: Orphanet Journal of Rare Diseases 2020 15:259
  47. Erythropoietic protoporphyria (EPP) is an ultra-rare genetic disorder (prevalence 1:150`000) characterized by instant painful phototoxic burn reactions in skin exposed to visible light. Afamelanotide is the fi...

    Authors: Jasmin Barman-Aksözen, Michèle Nydegger, Xiaoye Schneider-Yin and Anna-Elisabeth Minder
    Citation: Orphanet Journal of Rare Diseases 2020 15:213
  48. Chronic wounds are a fundamental issue for patients with epidermolysis bullosa (EB). Herein, we assess the natural history of wound closure in patients with EB who were randomly assigned to the vehicle-control...

    Authors: Dedee F. Murrell, Amy S. Paller, Christine Bodemer, John Browning, Milos Nikolic, Jay A. Barth, Hjalmar Lagast, Eva Krusinska and Allen Reha
    Citation: Orphanet Journal of Rare Diseases 2020 15:190
  49. Epidermolysis bullosa (EB) comprises inherited mechanobullous dermatoses with considerable morbidity and mortality. While current treatments are symptomatic, a growing number of innovative therapeutic compound...

    Authors: Christine Prodinger, Anja Diem, Katherina Ude-Schoder, Josefina Piñón-Hofbauer, Sophie Kitzmueller, Johann W. Bauer and Martin Laimer
    Citation: Orphanet Journal of Rare Diseases 2020 15:182