Case report: Clinicopathological characteristics of <i>SASH1</i> mutation-related dyschromatosis: a rethinking of the classification of dyschromatosis.

ABSTRACT: Dyschromatosis, a group of pigmentary dermatoses, accompany both hyper- and hypo-pigmentation, including dyschromatosis symmetrica hereditaria (DSH), dyschromatosis universalis hereditaria (DUH), and familial progressive hyper- and hypo-pigmentation (FPHH). A peculiar phenotype of dyschromatosis presented as multiple lentigines and hypopigmentation with various sizes and shapes was found to be associated with SASH1 mutations and has recently been reported frequently. The current study evaluated the clinical manifestation, pathological pattern, and genetic basis of dyschromatosis in a five-generation family. This research also presents a case study of a sporadic patient with dyschromatosis caused by SASH1 mutations and shows different clinicopathological characteristics form D

SUBMITTER: Wang T 

PROVIDER: S-EPMC11922891 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature