Abstract
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. 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. 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. 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.
Highlights
Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominant disorder caused by mutations in PTCH, the tumor suppressor and human homologue of the Drosophila patched gene.[1,2]
The high degree of variation in expressivity of clinical features in NBCCS patients has been reported by numerous researchers.[5,11,12,13,14]
We studied minor and major clinical features of NBCCS in 30 children/teenagers and 75 adults with NBCCS from 26 families in an attempt to improve the current diagnostic criteria in the pediatric population
Summary
109400), the syndrome is characterized primarily by basal cell carcinomas (BCCs), odontogenic keratocysts of the jaw, palmar/plantar pits, ectopic calcification of the falx cerebri, macrocephaly, and skeletal abnormalities such as bifid ribs, wedge-shaped vertebrae, and a short fourth metacarpal.[3,4,5,6,7,8] The estimated prevalence of the syndrome is 1 per 30,000 individuals.[9]. Complete penetrance has been observed with the syndrome, but expressivity is highly variable within and across families.[10] The high degree of variation in expressivity of clinical features in NBCCS patients has been reported by numerous researchers.[5,11,12,13,14] Established diagnostic criteria[5,6,14] are informative when evaluating adults; children often do not display the most common symptoms until their teenage years. Amlashi et al.[16] reported children presenting with medulloblastomas before developing BCC
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