Universal permanent alopecia, psychomotor epilepsy, pyorrhea and mental subnormality.
A syndrome of congenital and permanent universal alopecia, involving absence of scalp hair, eyebrows, eyelashes, axillary and pubic hair, and the rest of the body hair is reported. Mental subnormality was noted in eight and psychomotor epilepsy in seven out of 12 affected individuals. Pyorrhea was observed in all ascertained patients. No abnormality of nails or skin (apart from absence of hair) was noted. The disorder, which affected seven females and five males from six sibships, was transmitted through four generations. Utilizing the simple sib method, a ratio of 6/12 was obtained for affected individuals. The vertical transmission of the disorder, implication of both sexes, male to male transmission, and the 1:1 (affected: unaffected) segregation ratio support autosomal dominant inheritance. Penetrance appears to be complete.
D000328:Adult; D000505:Alopecia / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D000596:Amino Acids / Q000032:analysis; D004833:Epilepsy, Temporal Lobe / Q000235:genetics*; D005260:Female; D006197:Hair / Q000032:analysis / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010510:Periodontal Diseases / Q000235:genetics*; D013577:Syndrome
D000596:Amino Acids