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Article

Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.

Human mutation - 1 Oct 2010

Aten Emmelien, Brasz Lisa C, Bornholdt Dorothea, Hooijkaas Ingeborg B, Porteous Mary E, Sybert Virginia P, Vermeer Maarten H, Vossen Rolf H A M, van der Wielen Michiel J R, Bakker Egbert, Breuning Martijn H, Grzeschik Karl-Heinz, Oosterwijk Jan C, den Dunnen Johan T

Abstract excerpt

Keratosis Follicularis Spinulosa Decalvans (KFSD) is a rare genetic disorder characterized by development of hyperkeratotic follicular papules on the scalp followed by progressive alopecia of the scalp, eyelashes, and eyebrows. Associated eye findings include photophobia in childhood and corneal dystrophy. Due to the genetic and clinical heterogeneity of similar disorders, a definitive diagnosis of KFSD is often...

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Source

Identifiers

PMID: 20672378
DOI: 10.1002/humu.21335

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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Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2.PMID 20672378Read ↗

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