Rapp-Hodgkin syndrome with pili canaliculi.
A 20-year-old woman and her 12-year-old brother had hypohidrotic ectodermal dysplasia, cleft lip and palate, midfacial hypoplasia with narrow nose from the nasal bridge to the tip, narrow dysplastic nails, and conical teeth and hypodontia, and hypospadias and hypoplastic uvula in the boy. The woman had major underdevelopment of intellectual capacity. The most important hair anomalies in both siblings were sparse eyebrows, pili torti, and pili canaliculi. Some of the pili canaliculi had two canals (pili bicanaliculi), and the cross section for scanning electron microscopy had a quadrangular aspect. This is the seventh family reported with Rapp-Hodgkin ectodermal dysplasia.
Camacho
F
F
Department of Medico-Surgical Dermatology, Sevilla, Spain.
Ferrando
J
J
Pichardo
A R
AR
Sotillo
I
I
Jorquera
E
E
D000328:Adult; D002648:Child; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006201:Hair Diseases / Q000235:genetics*; D006801:Humans; D007021:Hypospadias; D008297:Male; D013577:Syndrome