Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of a case with perioral papillomatosis.
We report a 13-year-old boy with ectodermal dysplasia, ectrodactyly, and syndactyly, hypospadias, photophobia, conductive hearing loss, and perioral papillomatosis. His father had ectrodactyly and hypotrichosis. The clinical picture suggested ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. The presence of perioral papillomatosis, classically seen in Goltz syndrome, has been reported only once before in EEC syndrome.
Fernandes
Bárbara
B
Department of Dermatology, Hospitais da Universidade de Coimbra, Coimbra, Portugal.
Ruas
Evelina
E
Machado
Alvaro
A
Figueiredo
Américo
A
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000293:Adolescent; D002972:Cleft Palate / Q000150:complications / Q000175:diagnosis*; D004476:Ectodermal Dysplasia / Q000150:complications / Q000175:diagnosis*; D005500:Follow-Up Studies; D005532:Foot Deformities, Congenital / Q000150:complications / Q000175:diagnosis; D006228:Hand Deformities, Congenital / Q000150:complications / Q000175:diagnosis; D006801:Humans; D008297:Male; D009062:Mouth Neoplasms / Q000150:complications / Q000175:diagnosis*; D010212:Papilloma / Q000150:complications / Q000175:diagnosis*; D011174:Portugal; D018570:Risk Assessment; D013576:Syndactyly / Q000150:complications / Q000175:diagnosis*; D013577:Syndrome