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

Abstract

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 in these genes lead to malfunction of the sonic hedgehog pathway, causing unregulated cell proliferation and differentiation. As the sonic hedgehog pathway affects hair follicle growth and development, PTCH1 mutations could lead to unregulated hair follicle proliferation.

We present the case of a patient whose discrete tufts of hair led to the diagnosis of NBCCS. This case demonstrates that NBCCS should be considered within the differential diagnosis of localized hypertrichosis, as this patient is the sixth case to demonstrate this finding as an early cutaneous sign of BCNS.