IngentaConnect Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Ita...

Authors: Lo Muzio, Lorenzo; Nocini, Pier Francesco¹; Savoia, Anna²; Consolo, Ugo³; Procaccini, Maurizio⁴; Zelante, Leopoldo²; Pannone, Giuseppe⁵; Bucci, Paolo⁵; Dolci, Marco¹; Bambini, Fabrizio⁴; Solda, Paola²; Favia, Gianfranco⁶

Source: Clinical Genetics, Volume 55, Number 1, January 1999 , pp. 34-40(7)

Publisher: Blackwell Publishing

Abstract:

Nevoid basal cell carcinoma syndrome (NBCCS) is a hereditary condition transmitted as an autosomal dominant trait 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.

Keywords: basal cell carcinoma (BCC); Gorlin syndrome; nevoid basal cell carcinoma syndrome (NBCCS); odontogenic keratocyst

Document Type: Research article

DOI: 10.1034/j.1399-0004.1999.550106.x

Affiliations: 1: Division of Oral Surgery, University of Verona, Verona, 2: Servizio di Genetica Medica, IRCCS-Ospedale `Casa Sollievo della Sofferenza', San Giovanni Rotondo, Foggia, 3: Division of Oral Surgery, University of Modena, Modena, 4: Institute of Odontostomatological Sciences, University of Ancona, Ancona, Italy 5: Division of Oral Pathology and Medicine, University Federico II, Naples, 6: Institute of Oral and Maxillofacial Surgery, University of Bari, Bari,

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