Atlanto-occipital Ligament Calcification: A Novel Sign in Nevoid Basal Cell Carcinoma Syndrome

The nevoid basal cell carcinoma syndrome (NBCCS), first described by Gorlin and Goltz in 1960, is a hereditary autosomal dominant disease with high penetrance and variable expressivity. Almost 70% of patients with NBCCS have some degree of craniofacial anomaly. Among these, the presence of ectopic c...

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Bibliographic Details
Published in:Anticancer research 2010-10, Vol.30 (10), p.4265-4267
Main Authors: LEONARDI, Rosalia, SANTARELLI, Andrea, BARBATO, Ersilia, CIAVARELLA, Domenico, BOLOURI, Susanne, HÄRLE, Franz, PALAZZO, Giuseppe, LO MUZIO, Lorenzo
Format: Article
Language:English
Subjects:
Adolescent
Adult
Atlanto-Occipital Joint - diagnostic imaging
Atlanto-Occipital Joint - metabolism
Atlanto-Occipital Joint - pathology
Basal Cell Nevus Syndrome - diagnosis
Basal Cell Nevus Syndrome - diagnostic imaging
Basal Cell Nevus Syndrome - metabolism
Basal Cell Nevus Syndrome - pathology
Biological and medical sciences
Calcinosis - diagnostic imaging
Calcinosis - pathology
Child
Dermatology
Female
Humans
Male
Medical sciences
Middle Aged
Radiography
Tumors
Tumors of the skin and soft tissue. Premalignant lesions
Young Adult
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Summary:The nevoid basal cell carcinoma syndrome (NBCCS), first described by Gorlin and Goltz in 1960, is a hereditary autosomal dominant disease with high penetrance and variable expressivity. Almost 70% of patients with NBCCS have some degree of craniofacial anomaly. Among these, the presence of ectopic calcification have been reported but Atlanto-occipital ligament calcification has never been described. Therefore this investigation was carried out to determine the prevalence of atlanto-occipital ligament calcification on lateral x-ray of NBCCS patients aiming to assess the effectiveness of this sign in NBCCS diagnosis. Lateral and frontal cephalometric radiographs of 18 patients (11 males and 7 females), aged 8-61 years, with the diagnosis of NBCCS were evaluated for the presence of intracranial calcifications (diaphragma sellae and falx cerebri) and or calcification of the atlanto-occipital ligament. A total of 11 patients presented calcification of atlanto-occipital ligament to various degrees and in three cases this represented the only sign of ectopic calcification. When compared to the other two sites of ossification, atlanto-occipital ligament calcification had a similar prevalence. The calcification of the atlanto-occipital ligament should be considered in addition to the other major criteria for NBCCS diagnosis.
ISSN:0250-7005
1791-7530