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Article

Loss of GPNMB Causes Autosomal-Recessive Amyloidosis Cutis Dyschromica in Humans.

American journal of human genetics - 1 Feb 2018

Yang Chi-Fan, Lin Shuan-Pei, Chiang Chien-Ping, Wu Yu-Hung, H'ng Weng Siong, Chang Chun-Ping, Chen Yuan-Tsong, Wu Jer-Yuarn

Abstract excerpt

Amyloidosis cutis dyschromica (ACD) is a distinct form of primary cutaneous amyloidosis characterized by generalized hyperpigmentation mottled with small hypopigmented macules on the trunks and limbs. Affected families and sporadic case subjects have been reported predominantly in East and Southeast Asian ethnicities; however, the genetic cause has not been elucidated. We report here that the compound...

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Source

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Identifiers

PMID: 29336782
DOI: 10.1016/j.ajhg.2017.12.012
PMCID: PMC5985536

Genes

GPNMB
ACD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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