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

Main Article Content

Natalie Garcia
Victoria Jiminez
Abigail Smith
Amy Theos


focal hypertrichosis, hypertrichosis, nevoid basal cell carcinoma, gorlin syndrome, basal cell carcinoma


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.


1. Thalakoti S, Geller T. Basal cell nevus syndrome or Gorlin syndrome. Handb Clin Neurol. 2015;132:119-128. doi:10.1016/B978-0-444-62702-5.00008-1

2. Gorlin RJ. Nevoid basal cell carcinoma (Gorlin) syndrome. Genet Med. 2004;6(6):530-539. doi:10.1097/01.gim.0000144188.15902.c4

3. Notay M, Kamangar F, Awasthi S, Fazel N. Nevoid Basal Cell Carcinoma Syndrome and Hairy Skin Patches. Pediatr Dermatol. 2017;34(2):e97-e98. doi:10.1111/pde.13067

4. Wilson LC, Ajayi-Obe E, Bernhard B, Maas SM. Patched mutations and hairy skin patches: a new sign in Gorlin syndrome. Am J Med Genet A. 2006 Dec 1;140(23):2625-30. doi: 10.1002/ajmg.a.31374. PMID: 16906569.

5. Vashi RA, Mancini AJ, Paller AS. Primary generalized and localized hypertrichosis in children. Arch Dermatol. 2001;137(7):877-884.

Similar Articles

You may also start an advanced similarity search for this article.

Most read articles by the same author(s)