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Article

Exacerbation of X-linked ichthyosis phenotype in a female by inheritance of filaggrin and steroid sulfatase mutations.

Journal of dermatological science - 1 Dec 2011

Ramesh Raakhee, Chen Huijia, Kukula Anna, Wakeling Emma L, Rustin Malcolm H A, McLean W H Irwin

Abstract excerpt

BACKGROUND: X-linked ichthyosis (XLI) is a relatively common, recessive condition caused by mutations in the steroid sulfatase (STS) gene. Common loss-of-function mutations in the filaggrin gene (FLG) cause ichthyosis vulgaris and predispose individuals to atopic eczema. OBJECTIVE: To test the hypothesis that co-inheritance of FLG mutations can act as a genetic modifier in XLI. METHODS: An unusually severe XLI...

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Source

Identifiers

PMID: 21945601
DOI: 10.1016/j.jdermsci.2011.07.006

Genes

FLG
STS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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