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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| Format: | Article |
| Language: | English |
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Wiley
2020-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2020/4206348 |
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| author | Shuk Ching Chong Kam Lun Hon Fernando Scaglia Chung Mo Chow Yu Ming Fu Tor Wo Chiu Alexander K. C. Leung |
| author_facet | Shuk Ching Chong Kam Lun Hon Fernando Scaglia Chung Mo Chow Yu Ming Fu Tor Wo Chiu Alexander K. C. Leung |
| author_sort | Shuk Ching Chong |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-16590c4e3dfe428caedb744c1e47af90 |
| institution | OA Journals |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-16590c4e3dfe428caedb744c1e47af902025-08-20T02:02:34ZengWileyCase Reports in Pediatrics2090-68032090-68112020-01-01202010.1155/2020/42063484206348Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5Shuk Ching Chong0Kam Lun Hon1Fernando Scaglia2Chung Mo Chow3Yu Ming Fu4Tor Wo Chiu5Alexander K. C. Leung6Department of Paediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong KongDepartment of Paediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong KongThe Chinese University of Hong Kong, Baylor College of Medicine Joint Center for Medical Genetics, Prince of Wales Hospital, Shatin, Hong KongDepartment of Paediatrics, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong KongDepartment of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Kwai Chung, Hong KongDivision of Plastic Reconstructive and Aesthetic Surgery, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin, Hong KongDepartment of Pediatrics, The University of Calgary and the Alberta Children’s Hospital, Calgary, Alberta, CanadaWe 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.http://dx.doi.org/10.1155/2020/4206348 |
| spellingShingle | Shuk Ching Chong Kam Lun Hon Fernando Scaglia Chung Mo Chow Yu Ming Fu Tor Wo Chiu Alexander K. C. Leung Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5 Case Reports in Pediatrics |
| title | Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5 |
| title_full | Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5 |
| title_fullStr | Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5 |
| title_full_unstemmed | Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5 |
| title_short | Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5 |
| title_sort | severe generalized epidermolysis bullosa simplex in two hong kong children due to de novo variants in krt14 and krt5 |
| url | http://dx.doi.org/10.1155/2020/4206348 |
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