Phenotypic Heterogeneity in Bullous Congenital Ichthyosiform Erythroderma
- 1 September 2001
- journal article
- case report
- Published by American Medical Association (AMA) in Archives of Dermatology
- Vol. 137 (9), 1192-1195
- https://doi.org/10.1001/archderm.137.9.1192
Abstract
Background Bullous congenital ichthyosiform erythroderma (BCIE) shows phenotypic variability. An epidermal nevus may represent somatic mosaicism for keratin gene mutation, which produces generalized BCIE in the next generation. This fact provides evidence that a postzygotic mutation can be passed on to the next generation in BCIE. We hypothesized that the same phenomenon occurred in a family with BCIE whose phenotypes were extremely different. Observations We studied a 19-year-old boy with severe ichthyosiform erythroderma and prominent palmoplantar hyperkeratosis with digital contracture. In contrast, the proband's mother exhibited only mild ichthyosiform skin, granular verrucous lesions, and less severe streaky palmoplantar hyperkeratosis. Mutation analysis in the proband showed a keratin K1 mutation (N187S, ie, an A-to-G transition at the second position of codon 187, resulting in an asparagine-to-serine substitution). In the mother, the same keratin gene mutation was recognized, but only faintly in the leukocyte DNA, indicating that the amount of the mutated allele in leukocyte DNA was very low compared with that from the proband. Conclusions We speculate that the mildly affected mother showed keratin 1 gene mosaicism, and that the BCIE phenotype had been transmitted in a severe form through a mechanism that passes the keratin gene mutation to the next generation. These results suggest that mild forms of BCIE may actually represent extensive epidermal nevi/keratin gene mosaicism.Keywords
This publication has 6 references indexed in Scilit:
- Intermediate filaments in diseaseCurrent Opinion in Cell Biology, 1995
- Genetic and Clinical Mosaicism in a Type of Epidermal NevusNew England Journal of Medicine, 1994
- Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.JCI Insight, 1994
- Mutations in the H1 and 1A Domains in the Keratin 1 Gene in Epidermolytic HyperkeratosisJournal of Investigative Dermatology, 1994
- Rapid detection of single base mismatches as heteroduplexes on Hydrolink gelsTrends in Genetics, 1991
- Epidermolytic hyperkeratosis: generalized form in children from parents with systematized linear formBritish Journal of Dermatology, 1990