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Article

Phenotype-genotype correlation in a cohort of 15 patients with hereditary ichthyosis.

Clinica chimica acta; international journal of clinical chemistry - 1 Mar 2026

Ma Yu-Jie, Li Jing, Liu Yang, Wei Tian-Ying, Liu Jia-En, Zhang Jing, Hu Hua-Ying, Yang Kai

Abstract excerpt

BACKGROUND: Hereditary ichthyosis is a heterogeneous group of skin disorders classified within the Mendelian disorders of cornification (MEDOC). Its primary clinical manifestations include hyperkeratosis, dryness, and scaling as a result of desquamation. Due to symptomatic overlap with other keratinization disorders, accurate differential diagnosis is essential. Furthermore, genetic diagnosis of hereditary...

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Identifiers

PMID: 41547493
DOI: 10.1016/j.cca.2026.120844

Genes

ABCA12
FLG
STS
TGM1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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