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

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 pathophysiolog...

Full description

Saved in:
Bibliographic Details
Published inPediatric dermatology Vol. 35; no. 6; pp. e396 - e397
Main Authors Shevchenko, Alina, Durkin, John R., Moon, Amanda T.
Format Journal Article
LanguageEnglish
Published United States Wiley Subscription Services, Inc 01.11.2018
Subjects
Basal cell carcinoma
generalized basaloid follicular hamartoma syndrome
Genetic screening
Gorlin syndrome
Medical diagnosis
Mutation
Neoplasia
nevoid basal cell carcinoma syndrome
Pediatrics
Point mutation
PTCH1 mutation
Skin
Skin cancer
Tumors
generalized basaloid follicular hamartoma syndrome
PTCH1 mutation
Gorlin syndrome
nevoid basal cell carcinoma syndrome
Online AccessGet full text

Cover

More Information
Summary: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.
Bibliography:ObjectType-Case Study-2
SourceType-Scholarly Journals-1
ObjectType-Feature-4
content type line 23
ObjectType-Report-1
ObjectType-Article-3
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.13614