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

• 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
• ISSN: 0250-7005; 1791-7530

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.