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Xanthoma disseminatum (XD) is a nonfamilial type of normolipidemic mucocutaneous xanthomatosis that belongs to the group of non-Langerhans cell histiocytoses. More than 100 cases of XD have been reported. In this study we report a case of XD in a 4-year-old boy with diabetes insipidus (DI). This boy is one of the youngest patients ever to present with XD combined with DI., (© 2017 Wiley Periodicals, Inc.)

Xanthoma disseminatum (XD) is a rare, benign, non-Langerhans cell histiocytosis characterized by disseminated xanthomatous lesions with a predilection for the face, flexures, and mucosae. Approximately 100 cases have been reported in the literature. We report XD in an 8-year-old boy with symmetric synovitis and arthritis involving the wrists and knees. This case is interesting in view of the association between arthritis and synovitis and XD, which to our knowledge has not been reported in the literature. This case has to be differentiated from multicentric histiocytosis, another non-Langerhans cell histiocytosis, in which joint involvement is common., (© 2014 Wiley Periodicals, Inc.)

Histiocytoses are a heterogeneous group of disorders which are difficult to categorize because of overlapping clinical and microscopic features, and incompletely understood mechanisms of cellular origin and triggers of proliferation. Progressive nodular histiocytosis (PNH) is a rare non-Langerhans cell histiocytic (NLH) disorder. We present the case of a 34-year-old woman with PNH, who has involvement of the back, head and neck, face, and uniquely, extensive involvement of the posterior pharynx and larynx, which has shown progressive worsening and deformity over a 7-year course. Clinically it is best classified as PNH, although it microscopically closely resembles juvenile and adult xanthogranulomatosis. This study reinforces the concept that the NLH is a closely related group of disorders, possibly representing a spectrum of a single underlying process.

Xanthoma disseminatum is a rare, usually self-healing dermatologic disease of unknown etiology. Involvement of other organs and tissues including bone marrow, bone, and brain may be seen rarely in children. However, to date, hepatic involvement has not been reported. We describe a child with xanthoma disseminatum who had hepatic involvement, and discuss his course and treatment with steroid and azathioprine.

The histiocytic syndromes consist of a group of disorders that share in common the proliferation of cells of the monocytic/macrophage lineage. It has been conventional to divide the histiocytoses into two separate groups: Langerhans cell histiocytosis (LCH) and non-LCH. We present a 2-year-old Hispanic boy who was referred to the dermatology clinic for evaluation of an asymptomatic cutaneous eruption of the head and upper trunk. In addition, he had a 3-week history of pain in his right leg and difficulty in walking. The patient's physical examination was normal, excluding the skin findings. On plain radiography, multiple lytic lesions in the skull, lumbar spine, and right tibia were seen. Histopathologic examination of a skin biopsy specimen revealed a predominantly histiocytic infiltrate in the dermis which was negative for S-100 and CD1a stains. A tibial biopsy specimen showed a monomorphous infiltrate of histiocytes that were S-100 and CD1a positive. This patient's concomitant findings of both LCH and non-LCH histiocytoses further support a potential overlap within the histiocytic syndromes, as has been suggested by others.

Benign cephalic histiocytosis is a rare skin condition consisting of small tan papules on the face and upper trunk that is believed not to be associated with internal organ involvement. The infiltrating histiocytes are not Langerhans' cells (LCs). We report a 5-year-old girl who presented with diabetes insipidus 1 year after developing multiple small brown asymptomatic skin papules. Histologic examination revealed a non-LC histiocytic proliferation in the dermis without epidermal invasion. She had infiltration of the pituitary stalk on brain imaging. Diabetes insipidus has heretofore been associated with LC histiocytosis and xanthoma disseminatum but not benign cephalic histiocytosis.

Background: The recent recognition of the association of Epstein-Barr virus (EBV) with T-cell/natural killer cell (T/NK-cell) lymphoma has documented that particular types of EBV-containing T/NK-cell lymphoma are frequently complicated by hemophagocytic syndrome (HPS). This observation suggests that both EBV and proliferating T/NK-lymphoma cells play significant roles in the development of HPS. Cytokines released from neoplastic T cells are presumed to account for the activation of macrophages, which is followed by a complex cascade of cytokine production, resulting in full-blown HPS. Five patients with B-cell lymphoma complicated by HPS were studied for elevated serum cytokines, the association of EBV, and CD25 expression of lymphoma cells; the aim of this study was to verify whether the mechanisms of HPS development hypothesized for T/NK-cell lymphoma also operate in B-cell lymphoma., Methods: Sera were analyzed for the presence of inflammatory and immunoregulatory cytokines. Flow cytometry, immunohistology (IH), in situ hybridization (ISH), polymerase chain reaction (PCR), and Southern blot analysis were performed using bone marrow aspirates, biopsy specimens, and autopsy specimens., Results: Immunophenotypic and Southern blot studies verified that the lymphoma cells of all five patients were of B-cell lineage. Bone marrow aspirates demonstrated histiocytosis with extensive hemophagocytic activity. Marked elevation of serum cytokines and expression of CD25 were observed in all five patients. However, the results of PCR, ISH using EBER1 probe, and IH for latent membrane protein indicated that these lymphoma cells were free of EBV infection., Conclusions: In patients with B-cell lymphoma, EBV infection is not necessarily required for the initiation of HPS. In this article, the pathogenesis of HPS assumed to be operative in B-cell lymphoma is discussed with reference to T/NK-cell lymphoma complicated by HPS.