CDH3 gene related hypotrichosis and juvenile macular dystrophy - A case with a novel mutation.

ABSTRACT:

Purpose

CDH3-related hypotrichosis with juvenile macular dystrophy (HJMD) is an autosomal-recessive entity characterized by congenital sparse scalp hair and macular dystrophy, leading to severe central visual loss. We report a family with HJMD caused by a novel CDH3 gene mutation and review the mutation spectrum in HJMD. A detailed phenotypic assessment for patients whose molecular results were reported previously is also summarized.

Observations

We present a 13-year-old Turkish girl who experienced gradual bilateral visual deterioration with marked hair loss. Hair-pull test results and scalp skin texture were normal. The eyebrows and eyelashes were normal, and no abnormality in the teeth, nails, or limbs was detected. Fundus examination revealed bilateral ring

SUBMITTER: Karti O 

PROVIDER: S-EPMC5722150 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature