Keratosis follicularis spinulosa decalvans Disease

About Gene:

Keratosis follicularis spinulosa decalvans is a genodermatoses that specifically affects the hair follicles and lead to symptoms such as scarring alopecia of the scalp, eyebrows, and axillae. The disease has also been liked with photophobia and keratoderma.

Number of Patients: 1

Disease Causing Genes:

MBTPS2; membrane bound transcription factor peptid SAT1; spermidine/spermine N1-acetyltransferase 1

Sign and Symptoms:

  1. lack of development of hair
  2. Lesions
  3. Photophobia
  4. Keratoderma

Diagnosis:

(1) Medical history collection (2) Physical examination (3) Scalp biopsy

Preventions:

Genetic counseling

Treatment:

Symptomatic treatment includes the administration of : - topical keratolytic - emollients -Vitamin A derivatives