Nevoid basal cell carcinoma syndrome: our experience in a pediatric hospital

Actas Dermosifiliogr. 2013 Jun;104(5):426-33. doi: 10.1016/j.adengl.2013.04.006. Epub 2013 May 11.
[Article in English, Spanish]

Abstract

Nevoid basal cell carcinoma (BCC) syndrome, or Gorlin syndrome, is a rare autosomal dominant disorder associated with mutations in the patched 1 gene, PTCH1. It is characterized by the presence of multiple BCCs in association with disorders affecting the bones, the skin, the eyes, and the nervous system. We describe 6 cases of nevoid BCC syndrome evaluated in our department. Palmoplantar pitting was observed in all 6 patients, multiple BCCs in 5 patients (83%), skeletal anomalies in 3 patients (50%), and odontogenic keratocysts in 1 patient (17%). We would like to stress the importance of early diagnosis and treatment in nevoid BCC syndrome and the need for continuous, long-term follow-up by a multidisciplinary team.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Basal Cell Nevus Syndrome* / diagnosis
  • Child
  • Child, Preschool
  • Female
  • Hospitals, Pediatric
  • Humans
  • Male
  • Skin Neoplasms* / diagnosis