title: Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC): report of a case with perioral papillomatosis.
abstract: 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.
authors.affiliation: Department of Dermatology, Hospitais da Universidade de Coimbra, Coimbra, Portugal.
authors.forename: Bárbara
authors.initials: B
authors.lastname: Fernandes
authors.forename: Evelina
authors.initials: E
authors.lastname: Ruas
authors.forename: Alvaro
authors.initials: A
authors.lastname: Machado
authors.forename: Américo
authors.initials: A
authors.lastname: Figueiredo
mesh_terms: 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