Congenital Generalized Melanoleucoderma Associated with Hypodontia, Hypotrichosis, Stunted Growth and Mental Retardation Occurring in Two Brothers and Two Sisters

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Abstract
A congenital familial anomaly is described affecting with a striking similarity 2 sons and 2 daughters of relative healthy parents. The disorder is characterized by stunted growth, thinness of the body, especially the legs (bird legs); mental retardation and sexual underdevelopment in the males; hypospadia, small penis and scrotum, atrophy of the testes and absence of secondary sex signs. The appearance of the face was striking sparse, eyebrows, flat, saddle-shaped nose, small moustache, thick lips and wrinkling about the eyes and mouth. The eruption of the deciduous and permanent teeth was delayed and incomplete, lacking from 8 to 13 teeth. There was an underdevelopment of the pilosebaceous apparatus with the complete absence of lanugo hair. The skin appeared thin, fine, dry and pliable. There were telangiectases on the lips, aneto-poikilodermatous lesions on the elbows, knees and some proximal phalangeal articulations, atrophic scars on the legs and palmar and plantar hyperkeratosis with mild hyperhidrosis. A widely generalized melano-leucoderma involved all the skin except the scalp and especially the extremities where the mottled dyschromia exhibited the appearance of a leopard skin. The differential diagnosis is discussed in relation to incontinentia pigmenti, dyskeratosis congenita and Werner''s and Rothmund''s syndromes. The disorder is considered as a specially unusual, incomplete and mixed type of extodermal dysplasia. A pituitary dysfunction is advocated as a probable cause of this anomaly.