Hypohidrotic ectodermal dysplasia with autosomal inheritance: A rare entity
Abstrak
Hypohidrotic ectodermal dysplasia (HED) is a rare disorder which is characterized by the involvement of all ectodermal derivatives and marked deficiency of sweating. It has a prevalence of 1: 100,000. X-linked recessive fashion is the most common pattern of inheritance, and 90% of the individuals affected are males. Autosomal dominant and recessive forms of this disease are very rare. Here, a 24-year-old female presented with classical features of HED: sparse lusterless hair, everted lips, and artificial dentures with a history of hypodontia in childhood. Patient's niece had complaints of decreased hair growth and sweating since birth. The patient also gave a history of similar complaints in great grandmother. Hence, we present an uncommon scenario where three females of an extended family were affected with HED and had symptoms of varying severity.
Topik & Kata Kunci
Penulis (2)
Ayushi Lodha
Shylaja Someshwar
Akses Cepat
- Tahun Terbit
- 2019
- Sumber Database
- DOAJ
- DOI
- 10.4103/mjmsr.mjmsr_41_19
- Akses
- Open Access ✓