Farber Disease Misdiagnosed as Hemangioendothelioma.
10.13029/jkaps.2016.22.2.54
- Author:
Sang Mok LEE
1
;
Chaeyoun OH
;
Sung Eun JUNG
;
Hyun Young KIM
Author Information
1. Department of Surgery, SMG-SNU Boramae Medical Center, Seoul, Korea.
- Publication Type:Case Report
- Keywords:
Farber disease;
Epithelioid hemangioendothelioma;
Sacrococcygeal mass;
Farber lipogranulomatosis
- MeSH:
Diagnostic Errors;
Farber Lipogranulomatosis*;
Female;
Hemangioendothelioma*;
Hemangioendothelioma, Epithelioid;
Humans;
Scalp;
Wills
- From:Journal of the Korean Association of Pediatric Surgeons
2016;22(2):54-58
- CountryRepublic of Korea
- Language:English
-
Abstract:
Farber disease (FD) is a rare lysosomal storage disorder that shows autosomal recessive inheritance. We report the case of a 58-month-old girl with FD, who was misdiagnosed with epithelioid hemangioendothelioma. The patient had undergone five surgeries for sacrococcygeal masses and three surgeries for scalp masses owing to misdiagnosis. Here, we describe this rare case of FD.
