PRJNA540824
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. We describe three pedigrees with ACD in whom we identified semi-dominant GPNMB mutations thereby expanding the inheritance pattern of this disorder.