SYNDROME OF THE SEA‐BLUE HISTIOCYTE —The First Case Report in Japan and Review of the Literature—

Abstract

A case of the syndrome of sea‐blue histiocyte is presented in a 53‐year‐old Japanese woman, which is the first recorded case in Japan. The patient had hepatosplenomegaly, bleeding manifestations, mild thrombocytopenia, fatty metamorphosis and cirrhosis of the liver, as well as abnormal serum lipid profiles. Her parents were consanguineous and her maternal grandmother with hepatomegaly died of hepatic failure. Histologically, peculiar histiocytes containing numerous, intracytoplasmic sea‐blue stained granules on May‐Giemsa stain were demonstrated in biopsy materials of the bone marrow, lymph node and liver. The sea‐blue granules in these histiocytes proved to have histochemical staining characteristics of lipogenic ceroid‐like pigment. Ultrastructurally, these granules showed membrane‐bound, pleomorphic inclusions of heterogeneous nature, including electron‐dense amorphous or variegatedly osmiophilic, frequently laminated materials. Enzyme cyto‐chemically, localization of acid phosphatase activity was demonstrated in and around the intracytoplasmic inclusions. With regard to the pathogenesis of the sea‐blue histiocytes in this case, it may be suggested that the existence of the abnormality in lipid metabolism plays an imporant role in intralysosomal ceroidogenesis in these histiocytes.

Sea-Blue Histiocyte Syndrome with Cutaneous Involvement

“…At least five different forms have been tentatively classified [13]: in some of them sphingomye linase activity is reduced, while in others it is normal. Sphingomyelinase activity in SBHS has been studied only in a few cases with conflicting results [1,2,14,15]. At present we think that some cases of ANPD with nor mal or unevaluated sphingomyelinase may have been reported by other authors as SBHS [16] and that some cases published under these two diagnoses probably have the same disease [16,17], Until a more precise metabolic and enzymatic description of ANPD and SBHS is available, classification of such cases as either SBHS or ANPD is basically a question of terminology rather than a real nosographie distinction.…”

“…Sea-blue histiocytes (SBH) are macro phages loaded with cytoplasmic granules staining blue with Giemsa; they can be found in no less than 30 different diseases, in which they represent the last stage of de velopment of a cell storing and processing li pidie substances [1][2][3]. The end product of this process is probably a ceroid or related pigment responsible for its peculiar staining properties.…”