Abstract

DOMINGUES, Sara et al. Gorlin-goltz syndrome: a case report. Nascer e Crescer [online]. 2014, vol.23, n.2, pp.87-91. ISSN 0872-0754.

Introduction: The Gorlin-Goltz syndrome is a rare autosomal dominant inherited condition characterized by: basal cell carcinomas, odontogenic keratocysts, palmar or plantar pits, calcification of the falx cerebri and skeletal malformations. Medulloblastoma and other tumors are also associated with it. Case report: An 11-year-old female, with a history of macrocephaly, was referred to the Stomatology Department for recurrent mandibular cyst. Histopathological exam revealed odontogenic keratocysts, so the patient was referred to the Pediatric Department. Physical examination revealed macrocephaly and coarse face, with frontal bossing and hypertelorism. The genetic study performed detected a mutation in PTCH1 gene, confirming the clinical suspicion. Discussion: Odontogenic keratocysts are the most representative finding in Gorlin-Goltz Syndrome in the first two decades of life, therefore a high suspicion level is mandatory among pediatricians concerning detection of minor changes. After the diagnosis, a multidisciplinary team is required for adequate follow-up and timely treatment.

Keywords : Basal cell carcinoma; basal cell nevus syndrome; Gorlin syndrome; macrocephaly; medulloblastoma; multiple basal cell nevi; keratocysts; pits.

        · abstract in Portuguese     · text in Portuguese     · Portuguese ( pdf )