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

• Main Authors: Shuk Ching Chong (Author), Kam Lun Hon (Author), Fernando Scaglia (Author), Chung Mo Chow (Author), Yu Ming Fu (Author), Tor Wo Chiu (Author), Alexander K. C. Leung (Author)
• Format: Book
• Published: Hindawi Limited, 2020-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...