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

Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Genetics Wiley

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References (21)

Publisher
Wiley
Copyright
Munksgaard 1999
ISSN
0009-9163
eISSN
1399-0004
DOI
10.1034/j.1399-0004.1999.550106.x
Publisher site
See Article on Publisher Site

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.

Journal

Clinical GeneticsWiley

Published: Jan 1, 1999

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

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