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Article

KITLG mutations cause familial progressive hyper- and hypopigmentation.

The Journal of investigative dermatology - 1 Jun 2011

Amyere Mustapha, Vogt Thomas, Hoo Joe, Brandrup Flemming, Bygum Anette, Boon Laurence, Vikkula Miikka

Abstract excerpt

Familial progressive hyper- and hypopigmentation (FPHH) is thought to be an autosomal dominant disorder with reduced penetrance. Clinical signs consist of progressive diffuse, partly blotchy hyperpigmented lesions, multiple café-au-lait spots, intermingled with scattered hypopigmented-appearing maculae, and lentigines. FPHH is distinct from familial progressive hyperpigmentation (FPH), in which no hypopigmented...

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Source

Identifiers

PMID: 21368769
DOI: 10.1038/jid.2011.29

Genes

KITLG
SPRED1

Variants

Provenance

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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