Focal Hypertrichosis in an Infant as the Presenting Sign of Nevoid Basal Cell Carcinoma Syndrome

Nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin Syndrome, is a neurocutaneous disorder caused by mutations in the PTCH1 or, less commonly, SUFU genes. Mutations these genes lead to malfunction of sonic hedgehog pathway, causing unregulated proliferation and differentiation. As pathway affects hair follicle growth development, could proliferation. We present case patient whose discrete tufts led diagnosis NBCCS. This demonstrates that NBCCS should be considered within differential localized hypertrichosis, as this sixth demonstrate finding an early cutaneous sign BCNS.