Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 18-04-2020
Symbol HTSV
Location 18q12.1
Name hypotrichosis and skin vesicles
Corresponding gene DSC3
Main clinical features
  • hereditary hypotrichosis with hairs present at bith but were fragile and started falling again after 2–3 months
  • vesicles (less than 1 cm in diameter) were observed on the scalp and skin of most of the body with a release of fluid and the development scars on the skin site that normally took 3–4 months to heal
  • scalp-skin biopsy showed slight follicular plugging, a mild presence of perivascular and periadnexal inflammatory cells, and normal hair follicles with sebaceous glands morphologically normal and connected to the hair follicles
  • Genetic determination autosomal recessive
    Function/system disorder dermatology
    dermatology
    Type disease
    Remark(s)