Congenital alopecia, seizures, and psychomotor retardation in three siblings.
Three siblings, devoid of hair at birth, had an unusual autosomal recessive disorder characterized by universal congenital alopecia, microcephaly, seizures, psychomotor retardation, and severe growth failure. Metabolic and chromosome studies were normal. Skin biopsies disclosed immature hair follicles, some of which were filled with keratotic material but had no hair shafts. Neuropathologic features included cerebral cortical hypoplasia, neuronal depletion, and microcalcifications. The familial occurrence of universal congenital alopecia conjoined with nonprogressive central nervous system abnormalities in this and other kindreds defines a nosologic group of neurocutaneous disorders in which congenital alopecia is the solitary cutaneous manifestation.
Wessel
H B
HB
Department of Pediatrics, Children's Hospital of Pittsburgh, Pennsylvania 15213.
Barmada
M A
MA
Hashida
Y
Y
D000505:Alopecia / Q000235:genetics* / Q000473:pathology; D001706:Biopsy; D001921:Brain / Q000002:abnormalities / Q000473:pathology; D002648:Child; D004392:Dwarfism / Q000235:genetics; D004827:Epilepsy / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D008297:Male; D011596:Psychomotor Disorders / Q000235:genetics* / Q000473:pathology; D012867:Skin / Q000473:pathology; D013036:Spasms, Infantile / Q000235:genetics; D013577:Syndrome