A case of EEC syndrome with peri/intraoral papillomatosis and widespread freckling.

摘要

Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome is a pleiotropic congenital anomaly comprised of ectrodactyly, ectodermal dysplasia and cleft lip/cleft palate. Clinical manifestations may be variable and no symptom is obligatory for the diagnosis of the syndrome. We report a 24-year-old female patient with incomplete manifestations of EEC syndrome who was referred to our clinic for evaluation of multiple papillomas on her lips and oral mucosa. She had undergone reconstructive surgery for the ectrodactyly of both hands 2 months previously. No positive family history or consanguinity was recorded. Oral lesions had begun to appear at the age of 4 years. She had been treated several times with electrocautery and surgical excision, but the lesions had quickly recurred. She had had total loss of teeth for 4 years and described diminished sweating capacity.