Sea-blue histiocyte syndrome in Thai siblings.
We report two cases of sea-blue histiocyte syndrome in Thai siblings. The abnormal histiocytes were found in the bone marrow and liver of both patients, but none was found in the other members of the family. Cirrhosis and absence of axillary hair were present in both patients. One patient also had elephantiasis of the legs and Klinefelter's syndrome. Our studies support an autosomal recessive inheritance.
D001853:Bone Marrow / Q000473:pathology*; D006529:Hepatomegaly / Q000235:genetics*; D006644:Histiocytes; D008099:Liver / Q000473:pathology*; D008103:Liver Cirrhosis / Q000235:genetics* / Q000473:pathology; D013163:Splenomegaly / Q000235:genetics*; D013577:Syndrome; D013785:Thailand