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Familial progressive hyper- and hypopigmentation and malignancy in two families with new mutations inKITLG

14 Jul 2015

Abstract excerpt

BACKGROUND: Familial progressive hyper- and hypopigmentation (FPHH) is an autosomal dominant skin condition presenting in childhood with generalized macular dyspigmentation, usually reported in patients of East Asian origin. It overlaps phenotypically with other dyschromatoses, but can now be distinguished by mutations in the KIT ligand gene (KITLG). AIM: We report two unrelated white families with similar...

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PMID: 26179221
DOI: 10.1111/ced.12702

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