Generalized basaloid follicular hamartoma syndrome versus Gorlin syndrome: A diagnostic challenge

Abstract

Basaloid follicular hamartoma is a relatively rare benign neoplasm of follicular origin that can be mistaken histologically for basal cell carcinoma, but hereditary forms of basaloid follicular hamartoma are associated with nevoid basal cell carcinoma syndrome, or Gorlin syndrome. The pathophysiology of basaloid follicular hamartoma development involves mutations in the patched gene, which is also causative in nevoid basal cell carcinoma syndrome. We present a mother and daughter with basaloid follicular hamartomas, with genetic testing confirming patched gene mutation in the daughter.

Keywords: Gorlin syndrome; PTCH1 mutation; generalized basaloid follicular hamartoma syndrome; nevoid basal cell carcinoma syndrome.