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Generalized basaloid follicular hamartoma syndrome versus Gorlin syndrome: A diagnostic challenge
Author(s) -
Shevchenko Alina,
Durkin John R.,
Moon Amanda T.
Publication year - 2018
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13614
Subject(s) - nevoid basal cell carcinoma syndrome , hamartoma , basal cell nevus syndrome , patched , pathology , medicine , basal cell carcinoma , ptch1 , follicular phase , biology , basal cell , gene , genetics , hedgehog , hedgehog signaling pathway
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.