'Nails Only' Phenotype and Partial Dominance of p.Glu170Lys Mutation in a Family with Epidermolysis Bullosa Simplex
| Autor: | Elena Martínez-Lorenzo, Álvaro González-Cantero, Cristina Pérez-Hortet, Blas Gómez-Dorado, Cristina Schoendorff-Ortega, Ana Isabel Sánchez-Moya M.D. |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Adult Male medicine.medical_specialty Genetic counseling Dermatology Mechanical fragility 030207 dermatology & venereal diseases 03 medical and health sciences Epidermolysis bullosa simplex 0302 clinical medicine Medicine Humans skin and connective tissue diseases Child Gene integumentary system business.industry medicine.disease Phenotype 030104 developmental biology Nails Minor trauma Epidermolysis Bullosa Simplex Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Mutation Keratin-5 Female Epidermolysis bullosa business |
| Zdroj: | Pediatric dermatology. 34(4) |
| ISSN: | 1525-1470 |
| Popis: | Epidermolysis bullosa (EB) is a heterogeneous group of rare, chronic, inherited skin disorders characterized by marked mechanical fragility of epithelial tissues, with blistering and erosions after minor trauma. We present the first report of a nails-only phenotype in two patients with epidermolysis bullosa simplex (EBS) and a heterozygous pGlu170Lys mutation and the second reported case of EBS associated with a homozygous p.Glu170Lys mutation in the KRT5 gene. Our findings may be relevant for genetic counseling and for understanding the inheritance pattern of EBS. |
| Databáze: | OpenAIRE |
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