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Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5
Joint Authors
Hon, Kam-Lun Ellis
Chong, Shuk Ching
Scaglia, Fernando
Fu, Yu Ming
Chiu, Tor Wo
Chow, Chung Mo
Leung, Alexander K. C.
Source
Issue
Vol. 2020, Issue 2020 (31 Dec. 2020), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2020-04-17
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
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.
Genetic studies in these patients showed that the first case was due to a novel de novo heterozygous variant, c.377T>G (NM_000526.5 (c.377T>G, p.Leu126Arg)) in the KRT14 gene and the second case was due to a rare de novo heterozygous variant c.527A>G (NM_000424.4, c.527A>G, p.Asn176Ser) in the KRT5 gene.
To our knowledge, the c.377T>G variant in the KRT14 gene has not been previously reported, and the c.527A>G variant in the KRT5 gene is a rare cause of severe generalized EBS.
In severe generalized EBS, infants exhibit severe symptoms at the onset; however, they tend to improve with time.
A precise genetic diagnosis in these two cases aided in counseling the families concerning the prognosis in their affected children and the recurrence risk for future pregnancies.
American Psychological Association (APA)
Chong, Shuk Ching& Hon, Kam-Lun Ellis& Scaglia, Fernando& Chow, Chung Mo& Fu, Yu Ming& Chiu, Tor Wo…[et al.]. 2020. Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5. Case Reports in Pediatrics،Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1150627
Modern Language Association (MLA)
Chong, Shuk Ching…[et al.]. Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5. Case Reports in Pediatrics No. 2020 (2020), pp.1-5.
https://search.emarefa.net/detail/BIM-1150627
American Medical Association (AMA)
Chong, Shuk Ching& Hon, Kam-Lun Ellis& Scaglia, Fernando& Chow, Chung Mo& Fu, Yu Ming& Chiu, Tor Wo…[et al.]. Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5. Case Reports in Pediatrics. 2020. Vol. 2020, no. 2020, pp.1-5.
https://search.emarefa.net/detail/BIM-1150627
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1150627