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

Figure

• 

  Fig. 1 T1-weighted magnetic resonance images. A mass-like subcutaneous enhancing lesion (3.0×2.0×3.4 cm, white arrows) is seen at the sacrococcygeal level. (A) Transverse view. (B) Sagittal view.

• 

  Fig. 2 Gross view of the patient (four years and two months after birth). Subcutaneous nodules are seen (black arrows). (A) Coccygeal mass. (B) Submental nodules. (C) Scalp nodules. (D) Interphalangeal nodules.

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  Fig. 3 Microscopic photographs. (A, B) Low- and high-magnified photographs of H&E staining. Dense sclerotic collagenous tissue is seen with diffusely infiltrated epithelioid cells. (C) Immunohistochemical staining image of CD68. Strong cytoplasmic staining is noted, which is consistent with macrophages rather than carcinomatous cells. High-magnified photograph. (D) Transmission electron microscopy image of an epithelioid cell. Enlarged lysosomes with C-shaped curvilinear tubular bodies are noted (black arrows), suggesting Farber disease. High-magnified photograph.

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