[Forme fruste of Hunter's disease]

We report on a 19-year-old girl with hepatosplenomegaly and possible hematological disease. We suspected Gaucher's disease on account of histological and biochemical evidence found in specimens from the liver, spleen, and bone marrow. 18 months later, pebbled skin developed on her neck and upper back. Histological examination revealed large amounts of mucous material between the collagen bundles deep in the dermis, which proved to be dermatan sulfate. The clinical and histological symptoms are characteristic for Hunter's disease.