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Article

Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2.

Clinical and experimental dermatology - 1 Jul 2015

Fong K, Takeichi T, Liu L, Pramanik R, Lee J, Akiyama M, McGrath J A

Abstract excerpt

Ichthyosis follicularis, atrichia and photophobia (IFAP) syndrome (OMIM 308205) is a rare X-linked genetic disorder. Mutations in MBTPS2 underlie IFAP syndrome, with 19 different mutations reported to date. Keratosis follicularis spinulosa decalvans (KFSD) is an allelic disorder that results from a single recurrent mutation, p.Asn508Ser. We report a case from the UK of IFAP syndrome resulting from a new mutation,...

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Source

Identifiers

PMID: 25683132
DOI: 10.1111/ced.12587

Genes

MBTPS2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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