1. Emergence of multiple revertant keratinocyte clones in a patient with KID syndrome.
- Author
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Ishida, Y., Murata, T., Kakiuchi, N., Ogawa, S., and Kabashima, K.
- Subjects
- *
KERATINOCYTES , *SOMATIC mutation , *GENE conversion , *LETHAL mutations , *SYNDROMES - Abstract
This article discusses a case study of a patient with Keratitis-Ichthyosis-Deafness (KID) syndrome, a congenital skin disease. The patient had chronic cutaneous candidiasis, which led to the emergence of multiple revertant keratinocyte clones with a reversal of the skin phenotype. The study used whole-exome sequencing to analyze samples from different regions of the patient's skin and identified somatic mutations, including second-site mutations in the GJB2 gene. The findings suggest that chronic cutaneous candidiasis may promote the emergence of independent keratinocyte clones with second-site mutations, and this phenomenon could potentially be used to develop treatments for KID syndrome. [Extracted from the article]
- Published
- 2024
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