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- Title
Epidermolytic ichthyosis caused by KRT10 parental cutaneous‐gonadal mosaicism: a call for prospective genetic diagnosis.
- Authors
Song, Deyu; Zhang, Fang; Chen, Yusha; Li, Zhongtao; Wang, Sheng
- Abstract
In most of the reported cases, cutaneous-gonadal mosaicism was verified retrospectively only after affected children were born.[5] However, identifying a I KRT1/10 i pathogenic mutation in the EN lesions and sperms would permit prenatal diagnosis to prevent the birth of offspring with EI.[5] In conclusion, we described a case with EI caused by I KRT10 i paternal mosaicism. Epidermolytic ichthyosis caused by KRT10 parental cutaneous-gonadal mosaicism: a call for prospective genetic diagnosis Postzygotic somatic I KRT1 i or I KRT10 i mutations are associated with epidermolytic nevus (EN).[[1]] In rare cases, EN can produce epidermolytic ichthyosis (EI) (OMIM #113800) in the next generation due to cutaneous-gonadal mosaicism.[[1]] In this study, we describe a case of a prima facie "de novo" I KRT10 i mutation in a subject with EI that turned out to be inherited from a father with EN.
- Subjects
ICHTHYOSIS; MOSAICISM; GENETIC disorder diagnosis; SKIN disease diagnosis
- Publication
International Journal of Dermatology, 2023, Vol 62, Issue 11, pe583
- ISSN
0011-9059
- Publication type
Article
- DOI
10.1111/ijd.16841