Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals

Lorenzo Lo Muzio, Pier Francesco Nocini, Anna Savoia, Ugo Consolo, Maurizio Procaccini, Leopolde Zelante, Giuseppe Pannone, Paolo Bucci, Marco Dolci, Fabrizio Bambini, Paola Solda, Gianfranco Favia

Research output: Contribution to journalArticlepeer-review

Abstract

Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary condition transmitted as an autosomal dominant trail with complete penetrance and variable expressivity. The syndrome is characterised by numerous basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, palmar and/or plantar pits, skeletal abnormalities and intracranial calcifications. In this paper, the clinical features of 37 Italian patients are reviewed. Jaw cysts and calcification of falx cerebri were the most frequently observed anomalies, followed by BCCs and palmar/plantar pits. Similar to the case of African-Americans, the relatively low frequency of BCCs in the Italian population is probably due to protective skin pigmentation. A future search based on mutation screening might establish a possible genotype-phenotype correlation in Italian patients.

Original languageEnglish
Pages (from-to)34-40
Number of pages7
JournalClinical Genetics
Volume55
Issue number1
DOIs
Publication statusPublished - 1999

Keywords

  • Basal cell carcinoma (BCC)
  • Gorlin syndrome
  • Nevoid basal cell carcinoma syndrome (NBCCS)
  • Odontogenic keratocyst

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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