In:
Case Reports in Pediatrics, Hindawi Limited, Vol. 2020 ( 2020-04-17), p. 1-5
Abstract:
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.
Type of Medium:
Online Resource
ISSN:
2090-6803
,
2090-6811
DOI:
10.1155/2020/4206348
Language:
English
Publisher:
Hindawi Limited
Publication Date:
2020
detail.hit.zdb_id:
2659094-3
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