By Disease Name > Basal Cell Nevus Syndrome

Basal Cell Nevus Syndrome

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AKA Gorlin-Goltz syndrome
autosomal dominant
numerous BCCs (rarely invasive)
palmar pits
jaw cysts (odontogenic keratocysts)
epithelium lined;  the presenting complaint in ~50% of patients
the syndrome was discovered by a dentist, RJ Gorlin
appear during the first decade of life and displace the childs teeth;  cause pain, drainage, and jaw swelling
bifid ribs
calcification of the falx cerebri (85-90%)
general appearance large head, broad nasal ridge, hypertelorism, frontal bossing
etiology mutation in the PATCHED (PTC) gene = tumor suppressor gene