Farber disease: an ultrastructural study. Report of a case and review of the literature.
A case of Farber disease is reported and the ultrastructural pathology of the disease is reviewed. The present case showed the typical clinical picture of Farber disease. Acid ceramidase deficiency was demonstrated biochemically. Ultrastructural features of one subcutaneous nodule and a skin biopsy are described. Three lysosomal inclusions characterize Farber disease: curvilinear tubular bodies observed mainly in the reticuloendothelial system, "banana bodies" recorded only in the peripheral nervous system and zebra-like bodies which are essentially a neuronal storage. The nature of each is discussed and the skin biopsy is emphasized for its important diagnostic interest.
Zappatini-Tommasi
L
L
Department of Histology, Faculty of Medicine Alexis Carrel, Lyon, France.
Dumontel
C
C
Guibaud
P
P
Girod
C
C
D001706:Biopsy; D006801:Humans; D007223:Infant; D016464:Lysosomal Storage Diseases / Q000473:pathology*; D008297:Male; D008854:Microscopy, Electron; D012867:Skin / Q000473:pathology / Q000648:ultrastructure*; D012871:Skin Diseases / Q000473:pathology*