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Article

Hyperpigmentation in a Chinese family with autosomal dominant Cole disease.

Experimental dermatology - 1 Feb 2022

Li Zhongtao, Wang Lin, Wang Sheng

Abstract excerpt

Cole disease (OMIM 615522), caused by mutations in ENPP1, is a rare autosomal dominant or recessive genodermatosis characterized by guttate hypopigmentation and punctate palmoplantar keratoderma. To date, a few cases with autosomal recessive inheritance had been reported with hyperpigmentation. The aim of this case report was to investigate the molecular basis of individuals with hyperpigmentation,...

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Identifiers

PMID: 34297442
DOI: 10.1111/exd.14434

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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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