Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5

We report two Hong Kong children with severe generalized epidermolysis bullosa simplex (EBS), the most severe form of EBS, without a family history of EBS. EBS is a rare genodermatosis usually inherited in an autosomal dominant fashion although rare autosomal recessive cases have been reported. Gene...

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Publicat a:Case Rep Pediatr
Autors principals: Chong, Shuk Ching, Hon, Kam Lun, Scaglia, Fernando, Chow, Chung Mo, Fu, Yu Ming, Chiu, Tor Wo, Leung, Alexander K. C.
Format: Artigo
Idioma:Inglês
Publicat: Hindawi 2020
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7183525/
https://ncbi.nlm.nih.gov/pubmed/32351751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2020/4206348
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