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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) 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

    Content type: Research

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  2. 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

    Content type: Research

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  3. 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

    Content type: Research

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  4. 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

    Content type: Research

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  5. 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

    Content type: Review

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  6. 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

    Content type: Letter to the Editor

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  7. 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

    Content type: Research

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  8. 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

    Content type: Review

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  9. 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

    Content type: Research

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  10. 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

    Content type: Research

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  11. 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

    Content type: Research

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  12. 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

    Content type: Research

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  13. 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

    Content type: Research

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  14. 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

    Content type: Research

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  15. 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

    Content type: Research

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  16. 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

    Content type: Research

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  17. 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

    Content type: Letter to the Editor

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  18. 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

    Content type: Research

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  19. 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

    Content type: Review

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  20. 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

    Content type: Review

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  21. 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

    Content type: Letter to the Editor

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  22. 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

    Content type: Review

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  23. 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

    Content type: Research

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  24. 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

    Content type: Position statement

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  25. 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

    Content type: Research

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  26. 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

    Content type: Research

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  27. 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

    Content type: Research

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  28. Epidermolysis bullosa (EB) is a rare genetic disorder that manifests as blistering and/or skin erosion. There is no approved treatment for EB; current standard of care consists of wound and pain management. SD...

    Authors: Amy S. Paller, John Browning, Milos Nikolic, Christine Bodemer, Dedee F. Murrell, Willistine Lenon, Eva Krusinska, Allen Reha, Hjalmar Lagast and Jay A. Barth

    Citation: Orphanet Journal of Rare Diseases 2020 15:158

    Content type: Research

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  29. Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disease with many manifestations, and it involves any organ. In this study, we report a TSC patient with new type skin lesions.

    Authors: Qian Lu, Xiu-Yu Shi, Yang-Yang Wang, Meng-Na Zhang, Wen-Ze Wang, Jing Wang, Qiu-Hong Wang, Hui-Min Chen and Li-Ping Zou

    Citation: Orphanet Journal of Rare Diseases 2020 15:147

    Content type: Research

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  30. Epidermolysis bullosa (EB) comprises a group of genetic disorders with the hallmark of fragility of the skin and mucosal surfaces. The severity of different types of EB varies markedly as does the occurrence o...

    Authors: Jemima E. Mellerio, Maya El Hachem, Nathalia Bellon, Giovanna Zambruno, Hana Buckova, Rudolf Autrata, Carmen Salavastru, Tamara Caldaro, Celine Greco, Cristina Has and Christine Bodemer

    Citation: Orphanet Journal of Rare Diseases 2020 15:142

    Content type: Review

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  31. While skin carcinomas are reported in chronic ulcers and in patients treated with hydroxyurea (HU) for myeloproliferative neoplasms, no skin carcinoma has been reported in patients with sickle cell disease (SC...

    Authors: Boutros Soutou, Patricia Senet, François Lionnet, Anoosha Habibi and Sélim Aractingi

    Citation: Orphanet Journal of Rare Diseases 2020 15:66

    Content type: Research

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  32. Hereditary angioedema (HAE) in patients with normal C1 inhibitor (C1-INH) and the c.988A > G (p.Lys330Glu; p.K330E) variant in the plasminogen gene (HAE-PLG) is associated with skin swellings, abdominal pain a...

    Authors: Konrad Bork, Karin Wulff, Guenther Witzke, Thomas Machnig and Jochen Hardt

    Citation: Orphanet Journal of Rare Diseases 2020 15:52

    Content type: Research

    Published on:

  33. X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives. Cardinal symptoms are hypotrichosis, lack of teet...

    Authors: Sigrun Wohlfart, Ralph Meiller, Johanna Hammersen, Jung Park, Johannes Menzel-Severing, Volker O. Melichar, Kenneth Huttner, Ramsey Johnson, Florence Porte and Holm Schneider

    Citation: Orphanet Journal of Rare Diseases 2020 15:7

    Content type: Research

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  34. Little information is available regarding the burden of living with and managing epidermolysis bullosa, including the distinct challenges faced by patients with different disease types/subtypes.

    Authors: Anna L. Bruckner, Michael Losow, Jayson Wisk, Nita Patel, Allen Reha, Hjalmar Lagast, Jamie Gault, Jayne Gershkowitz, Brett Kopelan, Michael Hund and Dedee F. Murrell

    Citation: Orphanet Journal of Rare Diseases 2020 15:1

    Content type: Research

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  35. Neurofibromatosis type 1 is an inherited condition with variable phenotypic expression and a high medical and social burden.

    Authors: Marlene Guiraud, Athmane Bouroubi, Roxane Beauchamp, Arnaud Bocquet, Jean-Marc Grégoire, Isabelle Rauly-Lestienne, Ignacio Blanco, Pierre Wolkenstein and Anne-Marie Schmitt

    Citation: Orphanet Journal of Rare Diseases 2019 14:286

    Content type: Research

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  36. Cutis marmorata telangiectatica congenita (CMTC) is a rare capillary malformation characterised by persistent reticulated marbled erythema. It tends to be associated with cutaneous atrophy, ulcerations and bod...

    Authors: Teresa Nu Phuong Trinh Bui, Ayse Corap and Anette Bygum

    Citation: Orphanet Journal of Rare Diseases 2019 14:283

    Content type: Review

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  37. 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

    Content type: Research

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  38. Dystrophic epidermolysis bullosa (DEB) is a hereditary skin fragility disorder, characterized by trauma-induced blistering followed by soft tissue fibrosis. One of the most feared complications is the early de...

    Authors: Andrea Diociaiuti, Holger Steinke, Alexander Nyström, Agnes Schwieger-Briel, Frank Meiss, Christina Pfannenberg, Leena Bruckner-Tuderman, Juri Ruf, Rita De Vito, May El Hachem and Dimitra Kiritsi

    Citation: Orphanet Journal of Rare Diseases 2019 14:278

    Content type: Letter to the Editor

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  39. 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

    Content type: Research

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  40. 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

    Content type: Research

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  41. 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

    Content type: Research

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  42. 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

    Content type: Research

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  43. 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

    Content type: Review

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  44. 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

    Content type: Review

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  45. 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

    Content type: Research

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  46. 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

    Content type: Research

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  47. 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

    Content type: Research

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  48. 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

    Content type: Letter to the Editor

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