Splenomegaly with sea-blue histiocytes, thrombocytopenia and hypertriglyceridemia is a very rare association that has been described in only one report to date. The molecular defect in the two ...

Three symptomatic members of a family underwent a detailed ophthalmic evaluation including best-corrected distance and near-vision measurement, colour vision assessment, fundus evaluation and ...

Von Recklinghausen disease is autosomal dominant, but has very variable expressivity among affected individuals (i.e. there is a range of symptoms and signs that occur in different people with NF1).