Genodermatosis
Pronunciation: jee-noh-der-mah-TOH-sis
An inherited skin disorder caused by a specific genetic mutation, encompassing a broad spectrum of conditions from ichthyoses to blistering diseases diagnosed frequently in paediatric dermatology.
Full Definition
Genodermatosis (plural: genodermatoses) refers to any genetically determined skin disease transmitted in Mendelian or, less commonly, mitochondrial patterns. The category includes conditions such as epidermolysis bullosa, ichthyoses, ectodermal dysplasias, and neurofibromatosis, among hundreds of others. Recognition of genodermatoses is essential for editors working on genetics reports, genetic counselling documents, and rare-disease literature. The term is a single compound word (no hyphen) and its plural is formed with '-es,' not '-s.'
Usage
Usage note: No hyphen. Plural is 'genodermatoses.' Do not conflate with 'phakomatosis,' which specifically denotes neurocutaneous hamartomatous syndromes.
In Context
- "Whole-exome sequencing identified a pathogenic variant in KRT14, confirming the genodermatosis in this infant." — Clinical genetics report
- "The monograph covered all major genodermatoses encountered in the first year of life." — Paediatric dermatology textbook chapter