Inhibiting the Hedgehog Pathway in Patients with the Basal-Cell Nevus Syndrome

Sonic hedgehog signaling in Basal cell nevus syndrome.

The hedgehog (Hh) signaling pathway is considered to be a major signal transduction pathway during embryonic development, but it usually shuts down after birth. Aberrant Sonic hedgehog (Shh) activation during adulthood leads to neoplastic growth. Basal cell carcinoma (BCC) of the skin is driven by this pathway. Here, we summarize information related to the pathogenesis of this neoplasm, discuss...

Basal cell nevus syndrome presenting as a tender mass of the jaw: A case report

The hedgehog pathway and basal cell carcinomas.

Developmental pathways first elucidated by genetic studies in the fruit fly, Drosophila melanogaster, are conserved in vertebrates, and disruption of these pathways has been associated with various human congenital anomalies. Many developmental genes continue to play an important role in regulation of cell growth and differentiation after embryogenesis, and mutations in some of these genes can ...

Acrochordon-like basal cell carcinomas in patients with basal cell nevus syndrome.

Basal cell nevus syndrome is an autosomal dominant disorder characterized by multiple basal cell carcinomas, along with numerous other documented clinical features. Acrochordons (or skin tags) are common benign neoplasms that are appropriately left untreated in most patients. We describe two patients with known BCNS who were found to have multiple BCCs that clinically resembled acrochordons. Ou...

Meningeal calcification in basal cell nevus syndrome.

To cite: Nair PP, Khilari M, Peddawad D, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013200545 DESCRIPTION A 20-year-old woman presented with history of headache for 1 year. The headaches were mild to moderate in intensity, bilateral and non-throbbing, with no symptoms suggestive of raised intracranial pressure. The patient had hyperpigmented skin lesi...