J Korean Assoc Pediatr Surg.  2016 Dec;22(2):54-58. 10.13029/jkaps.2016.22.2.54.

Farber Disease Misdiagnosed as Hemangioendothelioma

• Lee SM
• Oh C
• Jung SE
• Kim HY

• KMID: 2363025
• DOI: http://doi.org/10.13029/jkaps.2016.22.2.54

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.

Keyword

Farber disease; Epithelioid hemangioendothelioma; Sacrococcygeal mass; Farber lipogranulomatosis

MeSH Terms

Diagnostic Errors
Farber Lipogranulomatosis*
Female
Hemangioendothelioma*
Hemangioendothelioma, Epithelioid
Humans
Scalp
Wills