Nevoid Basal Cell Carcinoma Syndrome

Basal cell carcinoma: biology, morphology and clinical implications

“…The clinical manifestations of nevoid BCC syndrome include the presence of numerous (up to thousands) of BCCs (Figure 3), 24 in essence similar to those which occur sporadically in the population but with an emphasis on nodular, superficial, and, in our experience, infundibulocystic types. Patients also manifest cysts of the skin and of the jaws, the latter showing a corrugated eosinophilic internal cuticular lining cognate to odontogenic keratocysts 24 Figure 3 Basal cell nevus syndrome: clinical morphology.…”

“…19,20 A BCC arising in a young person (ie less than 35 years of age) may have an aggressive clinical course. 19 Nevoid BCC (Basal Cell Nevus) Syndrome Introduction Described originally by Howell and Caro 22 in 1959, the nevoid BCC syndrome is also known as the Gorlin-Goltz syndrome 23,24 and is inherited as an autosomal dominant trait with some 30-50% of cases representing sporadic mutations. 23,24 Typically, the syndrome is expressed in young adulthood but on occasion children as young as 2 years of age manifest disease expression characterized by the presence of multiple basal cell cancers and other anomalies as described below.…”

“…Patients also manifest cysts of the skin and of the jaws, the latter showing a corrugated eosinophilic internal cuticular lining cognate to odontogenic keratocysts 24 Figure 3 Basal cell nevus syndrome: clinical morphology. This 9-year-old boy with basal cell nevus syndrome has thousands of pigmented papules and skin tag-like lesions on his trunk which correspond histologically to infundibulocystic BCC; the histology of one of these lesions is represented in Figure 12.…”

“…Calcification of the falx cerebri is another manifestation. 10,24 Palmoplantar pits typically 1-3 mm in depth and 2-3 mm in diameter appear during the second decade of life. 29 Neuropsychiatric impacts include schizophrenia, abnormal electroencephalograms, mental retardation and cerebellar degeneration.…”

The hedgehog signalling pathway in tumorigenesis and development

“…NBCCS is characterized by a predisposition to a range of tumour types, most notably basal cell carcinoma, but also medulloblastoma, ovarian ®broma, meningioma, ®brosarcoma, rhabdomyosarcoma and cardiac ®broma (Gorlin, 1995;Shanley et al, 1994). In addition to cancer predisposition, NBCCS is also associated with a range of developmental abnormalities including skeletal defects, dyskeratotic pitting of the hands and feet, progressive intracranial calci®cation, craniofacial anomalies and limb deformities including poly and syndactyly (Gorlin, 1995). Many of these anomalies can now be correlated with the role of hedgehog signalling in patterning diverse structures during embryonic development, and it is thought that most of these developmental defects are due to haploisufficiency of the patched protein (Hahn et al, 1996b).…”