Generalized basaloid follicular hamartoma syndrome versus Gorlin syndrome: A diagnostic challenge.
Pediatr Dermatol
; 35(6): e396-e397, 2018 Nov.
Article
in En
| MEDLINE
| ID: mdl-30152544
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.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Skin Diseases, Genetic
/
Skin Neoplasms
/
Basal Cell Nevus Syndrome
/
Hair Follicle
/
Hamartoma
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
/
Infant
Language:
En
Journal:
Pediatr Dermatol
Year:
2018
Document type:
Article