Clinical and radiological features in young individuals with nevoid basal cell carcinoma syndrome.

PURPOSE: Nevoid basal cell carcinoma syndrome is an autosomal dominant disorder characterized by multiple basal cell carcinomas, jaw cysts, palmar/plantar pits, spine and rib anomalies, and falx cerebri calcification. Current diagnostic criteria are suboptimal when applied to pediatric populations, as most common symptoms often do not begin to appear until teenage years. METHODS: We studied minor and major clinical features in 30 children/teenagers and compared the findings with 75 adults from 26 families with nevoid basal cell carcinoma syndrome. RESULTS: Fifty percent of children/teenagers and 82% of adults had at least one basal cell carcinoma. Jaw cysts occurred in 60% of children/teenagers and 81% of adults. Palmar/plantar pits were the most frequent feature seen in affected individuals at all ages. Macrocephaly was seen in 50% of affected and 8% of unaffected children/teenagers. Frontal bossing, hypertelorism, Sprengel deformity, pectus deformity, and cleft lip/palate were seen among affected children/teenagers but not among their unaffected siblings. Falx calcification, the most frequent radiological feature, was present in 37% of individuals <20 and 79% of those >20 years. CONCLUSION: We report clinical and radiological manifestations of nevoid basal cell carcinoma syndrome in children/teenagers, many of whom lacked major features such as basal cell carcinomas, jaw cysts, and falx calcification. Evaluations for palmar/plantar pits, craniofacial features, and radiological manifestations permit early diagnosis and optimum surveillance.

Incremental value of CT in the localization of parathyroid adenomas.

The diagnosis of hyperparathyroidism rests on clinical and biochemical laboratory criteria. Once the diagnosis is established, it is the function of diagnostic imaging to pre-operatively find the suspected parathyroid adenoma. Traditionally, nuclear medicine techniques such as 99mTc-Sestamibi scan and ultrasound evaluation have been the mainstay in finding the neoplasm. However, results are not always satisfactory, and accurately identifying parathyroid adenomas, especially when they are multiple, remains a challenge. We report a case where careful correlation with contrast-enhanced diagnostic CT scan of the neck helped localize two parathyroid adenomas.

Abdominal Wall Desmoid Fibromatosis Mimics Sarcoma With Intense FDG Uptake on FDG PET/CT.

We present the case of an abdominal wall soft tissue mass with intense FDG uptake in a 61-year-old man with unintentional weight loss. The appearance of this mass and high focal FDG uptake mimics high-grade sarcoma on (18)F-FDG PET/CT. However, the final excisional histopathological diagnosis was desmoid fibromatosis.

Different lesions revealed by 18F-FDG PET/CT and 18F-NaF PET/CT in patients with multiple myeloma.

We present different findings on 18F-FDG PET/CT and 18F-NaF PET/CT images in 2 patients with multiple myeloma. In 1 case, 18F-FDG PET/CT showed intense uptake in the lesions in the axial skeleton where 18F-NaF PET/CT seemed normal. In addition, a sternal lesion showed FDG uptake only in the center but NaF uptake only in the periphery. In another patient, intense NaF accumulation in a dorsal vertebra was noted, but the corresponding FDG uptake was unimpressive. The role of these 2 radioactive tracers in the management of multiple myeloma continues to be defined.

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

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 > 20 years and in 37% <20 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.