Chainuvati T, Piankijagum A, Viranuvatti V, Silverstein M N
Acta Haematol. 1977;58(1):58-64. doi: 10.1159/000207807.
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.
我们报告了两名泰国同胞患海蓝色组织细胞综合征的病例。在两名患者的骨髓和肝脏中均发现了异常组织细胞,但在该家族的其他成员中未发现。两名患者均出现肝硬化和腋毛缺失。其中一名患者还患有腿部象皮肿和克兰费尔特综合征。我们的研究支持常染色体隐性遗传。