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Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals
Author(s) -
Lo Muzio Lorenzo,
Nocini Pier Francesco,
Savoia Anna,
Consolo Ugo,
Procaccini Maurizio,
Zelante Leopoldo,
Pan Giuseppe,
Bucci Paolo,
Dolci Marco,
Bambini Fabrizio,
Solda Paola,
Favia Gianfranco
Publication year - 1999
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.1999.550106.x
Subject(s) - nevoid basal cell carcinoma syndrome , falx cerebri , penetrance , basal cell carcinoma , basal cell nevus syndrome , pathology , medicine , dermatology , calcification , odontogenic , skull , basal (medicine) , population , basal cell , biology , anatomy , phenotype , genetics , environmental health , insulin , gene
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.