Semi-dominant GPNMB mutations in amyloidosis cutis dyschromica

Amyloidosis cutis dyschromica (ACD) is a clinicopathologic form of primary localized cutaneous amyloidosis (PLCA) which is considered to be autosomal recessive and characterized by prepubertal onset of reticular hyperpigmentation with hypopigmented spots, along with amyloid deposition in the papillary dermis. Recently, bi-allelic mutations in GPNMB, encoding glycoprotein (transmembrane) non-metastatic melanoma protein b have been described in ACD (Yang et al., 2018). In contrast, we describe three pedigrees with ACD in whom we identified semi-dominant GPNMB mutations thereby expanding the inheritance pattern of this disorder.

Source: Journal of Investigative Dermatology - June 17, 2019 Category: Dermatology Authors: Alexandros Onoufriadis, Chao-Kai Hsu, Cindy R. Eide, Arti Nanda, Guy E. Orchard, Kenji Tomita, Adam Sheriff, William Scott, Chloe Tierney, John Y.W. Lee, Nesrin S. Gomaa, Rasthawathana Desomchoke, Su M. Lwin, Wei-Ting Tu, Liang-Yu Chen, Hsin-Yu Huang, She Tags: Letters to the Editor Source Type: research