Farber disease o Lipogranulomatosis type 4 (neonatal onset and fulminant course). Ceramide deficiency. Acid ceramidase deficiency.
Incidence
Extremely rare. Two children reported.
Clinical Characteristics
Onset in first few days of life with marked hepatosplenomegaly. No evidence of involvement of joints, larynx nor skin. There are pulmonary infiltrates and fever which complicates the clinical illness. There is massive infiltration of histiocytes in lungs, spleen and liver. Patients die in a few weeks.
Precipitants
no
Provocation Tests
no
Diagnostic Procedures
EB-F, EB-W. Foamy histiocytes are found in lungs, spleen and liver.