4-year-old male child with hypohidrotic ectodermal dysplasia

ABSTRACT

A 4-year-old male child presented with history of dry skin, scanty scalp hair, and decreased sweating since birth. On examination scalp hair were scanty, thin, dry and brownish in color. Facial features were frontal bossing, saddle shaped nose, thick everted lips and low set large ears. There was partial adontia with only one conical incisor tooth. There was generalized dryness of the skin. Mucosae and nails were normal. Histopathology of the skin showed rudimentary and decreased number of eccrine sweat glands, which confirmed the diagnosis of hypohidrotic ectodermal dysplasia