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Basal Cell Nevus Syndrome (BCNS)

Defining Characteristics

TONS of BCCs as child, megaloblastomas, palmar pits, bifid ribs, frontal bossing of scalp

Disease Development

Deficiency in patch (negative regulator of Shh) causes constitutive action of positive regulator (Shh), increasing incidence of BCC
Shh binds and inhibits patch; without patch, smoothened causes increased transcription of GLI-1,2,3, causing increased cell proliferation

Conventional Treatment

Vismodegib (targets Shh to decrease tumor size; but still residual tumor so perhaps development of resistance)


Loss of taste (and ultimately anorexia) is a side effect of tx