Trichodysplasia-Xeroderma

Pinheiro and Freire-Maia (1987) described a distinctive disorder in many members of 6 generations of a family. The disorder combined various degrees of trichodysplasia and xeroderma. Trichodysplasia was a general term they used for all types of hair disturbances from alopecia and hypotrichosis to structural changes such as pili torti and trichorrhexis nodosa. The proband, a 30-year-old man, was healthy but had sparse, coarse, brittle, slow-growing and excessively dry scalp hair. Eyebrows were irregularly sparse and eyelashes were scanty and short. Beard was absent. Axillary and pubic hair was sparse. Scanning electron microscopy of hair showed pili torti, scaling, and dystrophic bulbs. The skin was moderately dry.