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.
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Acid ceramidase deficiency: Farber disease and SMA-PME Fabian P. S. Yu, Samuel Amintas, Thierry Levade, Jeffrey A. Medin Orphanet Journal of Rare Diseases.2018;[Epub] CrossRef