Back to Search
Start Over
Parental mosaic cutaneous-gonadal GJB2 mutation: From epidermal nevus to inherited ichthyosis-deafness syndrome.
- Source :
-
The Journal of dermatology [J Dermatol] 2022 Mar; Vol. 49 (3), pp. 379-382. Date of Electronic Publication: 2021 Dec 09. - Publication Year :
- 2022
-
Abstract
- Ichthyosis and deafness syndrome is a group of devastating genodermatoses caused by heterozygous mutations in GJB2, encoding the gap junction protein connexin 26. These syndromes are characterized by severe skin disease, hearing loss, recurrent infections, and cutaneous neoplasms. Cutaneous somatic mutations in the same gene are associated with porokeratotic eccrine ostial dermal duct nevus. Here we report a family in which a parent presented with localized epidermal nevus and his child suffered with hystrix-like ichthyosis with deafness. Histologic examination of the parent's cutaneous lesion revealed verrucous epidermal nevus without features of porokeratotic eccrine ostial dermal duct nevus. Genetic analysis identified the same pathogenic variant, GJB2 c.148G>A (p.D50N), in DNA extracted from the parent's cutaneous lesion and the child's leukocytes, but not in the parent's leukocytes. This study expands the phenotypic heterogeneity of GJB2 mosaic variants in addition to porokeratotic eccrine ostial dermal duct nevus, and emphasizes the importance of molecular diagnosis of mosaic skin diseases considering the risk of severe inherited diseases in the offspring.<br /> (© 2021 Japanese Dermatological Association.)
Details
- Language :
- English
- ISSN :
- 1346-8138
- Volume :
- 49
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- The Journal of dermatology
- Publication Type :
- Academic Journal
- Accession number :
- 34889473
- Full Text :
- https://doi.org/10.1111/1346-8138.16268