Results
Title

Novel mutations in SASH1 associated with dyschromatosis universalis hereditaria.

Authors

Wei-Long Zhong; Hui-Jun Wang; Zhi-Miao Lin; Yong Yang

Abstract

The article offers information on a study related to associations between novel mutations in SASH1 with dyschromatosis universalis hereditaria . Topics discussed include a case of a 25‑year‑old woman born with normal skin pigmentation, and at the age of 3 years, freckle‑like macules appeared initially on her trunk, and then gradually extended to involve her face; and a case of a 42‑year‑old man who experienced a similar clinical process to that of the proband 1.

Subjects

PALMOPLANTAR keratoderma; NATURAL history; CONGENITAL disorders; LIFE sciences; SKIN diseases; MISSENSE mutation

Publication

Indian Journal of Dermatology, Venereology & Leprology, 2019, Vol 85, Issue 4, p438

ISSN

0378-6323

Publication type

Academic Journal

DOI

10.4103/ijdvl.IJDVL_360_17