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

Muzio, Lorenzo Lo; Nocini, Pier Francesco; Savoia, Anna; Consolo, Ugo; Procaccini, Maurizio; Zelante, Leopoldo; Pannone, Giuseppe; Bucci, Paolo; Dolci, Marco; Bambini, Fabrizio; Solda, Paola; Favia, Gianfranco

doi:10.1034/j.1399-0004.1999.550106.x

Cited by 154 publications

(188 citation statements)

References 18 publications

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“…3,[29][30][31][32][33] Comparison of the frequencies of major phenotypes in NBCCS, such as BCCs, KCOTs, palmar or plantar pits and calcification of the falx cerebri are listed in Table 4. Obvious differences were found in the onset of BCCs.…”

Section: Discussionmentioning

confidence: 99%

Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma

et al. 2011

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Section: Discussionmentioning

confidence: 99%

Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma

et al. 2011

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“…2,3 Previous studies on the skeletal malformations in NBCCS include the following: Dunnick et al 4 reported the incidence of radiological features in 27 individuals with NBCCS evaluated at the National Institutes of Health before 1978. Four population-based studies, one each from the UK, 5 Australia, 6,7 USA, 8 and Italy 9 have reported the frequency of the clinical features in NBCCS patients. Kimonis et al 8 reported the important clinical features in 105 individuals with NBCCS in a large US cross-sectional study conducted at the National Institute of Health.…”

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confidence: 99%

Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome

Kimonis

Mehta

DiGiovanna

et al. 2004

Genetics in Medicine

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Purpose: Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is an autosomal-dominant disorder characterized by multiple basal cell carcinomas, jaw cysts, palmar/plantar pits, calcification of the falx cerebri, and spine and rib anomalies. NBCCS is due to mutations in PTCH1, the human homologue of the Drosophila segment polarity gene patched. Mutations are detected in approximately 60% to 85% of individuals tested by sequencing of PTCH1; therefore, clinical examination and x-rays remain important in diagnosis of NBCCS. Methods: We studied 82 NBCCS patients and 38 of their unaffected siblings at the NIH between 1985 and 1994. Chest, rib, spine, skull, hand and foot x-rays, brain MRI or CT, and pelvic ultrasound (in females) were obtained in the affected individuals and compared to their unaffected relatives. Results: The following features were significantly more frequent in those with NBCCS: calcification of the falx cerebri, the most frequent radiological feature, was present in 79% of patients Ͼ 20 years and in 37% Ͻ20 years, calcification of the tentorium cerebellum was present in 20%, bridging of the sella in 68%, and abnormal frontal sinus aeration in 18% of affected individuals. Bifid ribs most often involving the third, fourth, and fifth ribs were seen in 26%; splayed, fused, and misshapen ribs in a further 16%, and widened ends of clavicles in 12%. Spine X-rays revealed calcification of the nuchal ligament in 18%, fusion of vertebrae in 10%, and hemivertebrae in 15%. Flame-shaped lucencies of the metacarpals and/or phalanges were present in 30%, modeling deformities of the phalanges in 14%, and polydactyly of the feet in 4%. The frequency of scoliosis, cervical ribs, absent or rudimentary ribs, spina bifida occulta, or short 4th metacarpal was not higher in the affected individuals as compared to their unaffected relatives. Except for falx calcification, the frequency of radiological manifestations was similar in different age groups. Cranial CT or MRI in 42 affected individuals revealed asymmetric or dilated ventricles in 24%, cerebral atrophy in 10%, cavum septum pellucidum in 19%, dysgenesis or agenesis of the corpus callosum in 10%, and meningioma in 5%. Ovarian fibromas were detected in 17% of females. Conclusions: This study reports the varied radiological manifestations of NBCCS. In the absence of major features such as basal cell carcinomas, jaw cysts, or falx calcification, which is often not evident until the teen years, other radiological manifestations of the disorder can permit early diagnosis of NBCCS in childhood. This will allow optimum surveillance for medulloblastoma and other neoplasms (cardiac fibromas and basal cell carcinomas) associated with NBCCS. Genet Med 2004:6(6):495-502.

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“…Odontogenic keratocysts are often the first sign of NBCCS and arise earlier in patients with the syndrome than in patients unaffected by the syndrome 9 . The most frequent skin lesions for NBCCS are BCCs.…”

Section: Discussionmentioning

confidence: 99%

Two Cases of Nevoid Basal Cell CarcinomaSyndrome in One Family

et al. 2008

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The nevoid basal cell carcinoma syndrome, or Gorlin-Goltz syndrome, is an autosomal dominant multiple system disorder with high penetrance and variable expressions, although it can also arise spontaneously. The diagnostic criteria for nevoid basal cell carcinoma syndrome include multiple basal cell carcinomas, palmoplantar pits, multiple odontogenic keratocysts, skeletal anomalies, positive family history, ectopic calcification and neurological anomalies. We report a brother and sister who were both diagnosed with nevoid basal cell carcinoma syndrome. (Ann Dermatol (Seoul) 20(4) 221∼225, 2008)

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

Cited by 154 publications

References 18 publications

Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma

Novel PTCH1 mutations in Japanese Nevoid basal cell carcinoma syndrome patients: two familial and three sporadic cases including the first Japanese patient with medulloblastoma

Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome

Two Cases of Nevoid Basal Cell CarcinomaSyndrome in One Family

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