Successful treatment of xanthoma disseminatum with pulsed dye laser: A case report.

Xanthoma disseminatum is a rare form of non-Langerhans cell histiocytosis with limited treatment options due to its unknown aetiology and diffuse skin lesions. This case report presents the successful treatment of a 31-year-old male with severe pan-facial xanthoma disseminatum lesions following a facial burn and traumatic brain injury resulting from a car accident. After 5 sessions of monthly pulsed dye laser treatment, there was a clinically significant reduction in the lesions. Over the course of 3 years, the patient underwent a series of monthly pulsed dye laser treatments, and the lesions were almost cleared. These findings suggest that pulsed dye laser therapy may offer an effective treatment option for managing xanthoma disseminatum. This is the first report on use of the pulsed dye laser for treatment of xanthoma disseminatum.

Progressive nodular histiocytosis: an unusual disorder.

Progressive nodular histiocytosis (PNH) is a rare type of non-Langerhans cell histiocytosis of the xanthogranuloma group. Less than 20 cases have been reported. We report here a novel case of PNH with dermoscopic description and post-surgical outcome. Our patient presented with pruritic papules and nodules with progression over two years. Dermoscopic examination of large lesions showed multiple telangiectases without ulceration. There was no mucosal involvement. Histopathological analysis of a papule showed a dermal infiltrate composed of histiocytes and many Touton giant cells; a nodule revealed a dermis occupied by spindle cells arranged in a storiform pattern. The nodules were resected and the largest surgical defect, on the forehead, was corrected with A-T advancement flap. The papules were treated with cryosurgery achieving adequate cosmetic outcome without recurrence.

Multicentric Reticulohistiocytosis: Elective Excision of Symptomatic Hand Nodules With 1-Year Follow-Up.

Multicentric reticulohistiocytosis is a rare non-Langerhans cell histiocytic rheumatologic disorder characterized by multiple skin lesions, painful hand nodules, and destructive polyarthritis that results in arthritis mutilans in 20% to 30% of patients. In the current literature, there have been approximately 300 cases reported and the pathogenesis remains unclear. Currently, there is no diagnostic serologic test and no consensus on management. In this case report, we present a patient with multicentric reticulohistiocytosis who was treated with selective excision of 3 painful nodules on the hand. The patient was seen 1 year after surgery. One of the nodules reoccurred whereas the other 2 remained quiescent. This procedure has the potential to produce considerable pain relief and improve quality of life in a disease process for which optimal medical regimen remains to be determined.

Progressive nodular histiocytosis.

Progressive nodular histiocytosis (PNH) represents a very rare type of non-Langerhans cell histiocytosis (NLCH). It can be distinguished from other types by the occurrence of yellow to red-brown papules and nodules measuring a few centimeters in size. Histologically the nodules represent spindle-cell xanthogranulomas. We report on two new cases of PNH with novel clinical symptoms. In the first case, the patient had microcytic anemia due to massive iron deposition in the nodules and a progressively worsening limp due to involvement of the soles. The complex therapeutic challenge was effectively managed by successive surgical ablation of all visible lesions. The second patient had epibulbar infiltrates. The clinical variability of PNH leads to considerable overlap with other forms of NLCH.

Progressive nodular histiocytosis with normal karyotypic analysis.

Non-Langerhans cell histiocytoses (NLH) comprise a spectrum of diseases that includes sinus histiocytosis with massive lymphadenopathy, hemophagocytic lymphohistiocytosis, xanthogranuloma, and reticulohistiocytoma. Progressive nodular histiocytosis (PNH) is a rare NLH that microscopically mimics juvenile xanthogranuloma but presents with disseminated persistent and progressive papulonodules in adults. Herein, we describe a case of PNH presenting as diffuse, progressively enlarging papules, nodules, and pedunculated tumors in a 38-year-old male. The diagnosis is supported microscopically by the morphologic and immunohistochemical findings. Whereas conventional cytogenetic analysis of Langerhans cell histiocytosis and juvenile xanthogranuloma has previously been described, there are no reports of the karyotype of PNH. In our patient, conventional cytogenetic analysis of the tumor revealed a normal karyotype. Although these results may represent the overgrowth of normal stromal cells rather than lesional cells, we believe this to be an important finding, indicating karyotypic analysis will not allow for distinction between PCH and other NLH or Langerhans cell histiocytoses.

Malignancy-associated multicentric reticulohistiocytosis.

Multicentric reticulohistiocytosis (MR) is a rare systemic disorder of unknown etiology. Up to 25% of patients with MR have associated malignancies. We are reporting a case of a patient with MR who initially had an excellent clinical response to oral methotrexate and prednisone. Subsequent attempts of prednisone taper failed because of disease flare-up. Workup for associated malignancy revealed localized squamous cell carcinoma of the lung. The tumor was resected; methotrexate and prednisone were tapered and discontinued with complete remission of MR. A review of literature and the new advances and treatment modalities for MR is provided.

Osteoarticular lesion in xanthoma disseminatum treated with total hip arthroplasty: a case report.

INTRODUCTION: Xanthoma disseminatum is a very rare disease classified as a benign non-Langerhans cell histiocytosis, which is rarely associated with osteoarticular lesions. There is only a report of tumor abrasion during treatment of osteoarticular lesions of this disease, artificial joint replacement has not been reported. We describe a patient in whom bilateral total joint replacement was performed for disseminated xanthoma lesions of the hip joints. CASE PRESENTATION: A 34-year-old Japanese woman had a chief complaint of bilateral coxalgia. She had been diagnosed as having disseminated xanthoma. Radiographs showed numerous 5-mm radiolucent bands that resembled worm-eaten tracks in the lower part of the femoral heads adjacent to the joint surface. In addition, short tau inversion recovery imaging scans showed high-intensity areas from the femoral head to the neck in both femurs, suggesting bone marrow edema. Total hip arthroplasty was performed for hip arthrosis on both hip joints caused by disseminated xanthoma. Deflection of the implants was a concern from the early stages postoperatively, but both the imaging and clinical findings have been satisfactory for 4 years of follow-up. CONCLUSIONS: A very unusual hip joint lesion of xanthoma disseminatum was replaced with a total artificial joint replacement, and the course over 4 years was good. Our patient's course will continue to be followed carefully.

Xanthogranulomatous cholangitis causing obstructive jaundice: a case report.

This article reports the case of a 34-year-old woman with xanthogranulomatous cholangitis who developed obstructive jaundice. Microscopically, the bile duct was surrounded and narrowed by a xanthogranulomatous lesion, but no xanthogranulomatous cholecystitis was seen. Although percutaneous cholangiograms done via the transhepatic biliary drainage showed smooth narrowing of the upper to middle bile duct, the cytology of bile was diagnosed as class V adenocarcinoma. Therefore, right extended hepatectomy and extrahepatic bile duct resection were performed. The differentiation of benign and malignant strictures at the hepatic hilum is often difficult. Xanthogranulomatous cholangitis is one possible diagnosis of a bile duct stricture. Precise review of all the preoperative information is required to make a correct diagnosis.

Ampullary xanthogranulomatous inflammation mimicking periampullary cancer: report of a case.

CONTEXT: Xanthogranulomatous inflammation commonly affects the gallbladder. To date, there have been no reports of xanthogranulomatous inflammation of the ampulla. CASE REPORT: A 48-year-old female presented to us with fever, jaundice and a palpable gallbladder. Evaluation revealed features of periampullary malignancy. The patient underwent a Whipple's pancreaticoduodenectomy. Histopathology revealed a xanthogranulomatous inflammation affecting the ampulla and the gallbladder. CONCLUSION: Xanthogranulomatous inflammation should be added to the differential diagnosis of patients presenting with a suspected periampullary lesion accompanied by a thick-walled gallbladder.

[Xanthoma disseminatum: a rare case involving the upper extremity]. / Xanthoma disseminatum -- ein seltener Befall an der oberen Extremität.

We describe a dramatic case of class II non-Langerhans cell histiocytosis, xanthoma disseminatum, in a 30-year-old male patient with progressive involvement of the skin, vocal cords, eyes, bones and nerves in spite of chemotherapy with Vespesid and immunotherapy with interferon-gamma. At the age of 43 years, the patient required surgical clearance of airways, eyelids and peripheral nerves, but at present exhibits stable disease on a combination of lipid-lowering drugs including thiazolidinedione.

Xanthoma disseminatum with bilateral epibulbar involvement.

PURPOSE: To describe the ocular involvement in xanthoma disseminatum. DESIGN: Case report and literature review. METHODS: Histopathologic study of excised conjunctival tumor and clinical follow-up. RESULTS: A 29-year-old woman with normal serum lipoproteins developed widespread xanthomas of the skin, throat, and episclera. There were no signs of recurrence 12 months after removal of the conjunctival xanthomas. CONCLUSIONS: Xanthoma disseminatum is a rare condition for which there is no medical treatment. The distinction between the normolipemic xanthomatoses awaits a better understanding of their pathogenesis. Surgical removal of episcleral xanthomas can be successful, but long-term follow-up of such patients has been limited.

Human immunodeficiency virus-associated hemophagocytosis with iron-deficiency anemia and massive splenomegaly.

We present a case of hemophagocytic syndrome in a human immunodeficiency virus-positive man with iron-deficiency anemia that did not respond to highly active antiretroviral therapy. Clinical resolution occurred only after a splenectomy was performed.

Allogeneic bone marrow transplantation for active Epstein-Barr virus-related lymphoproliferative disease and hemophagocytic lymphohistiocytosis in an infant with severe combined immunodeficiency syndrome.

A 5-month-old male presented with fever, hepatosplenomegaly, leukocytosis with atypical lymphoblasts, anemia and thrombocytopenia. Severe combined imunodeficiency syndrome (T-, B+, NK+), B lymphoproliferative disease and hemophagocytic lymphohistiocytosis triggered by Epstein-Barr virus (EBV) were diagnosed. As his clinical situation deteriorated rapidly, BMT was performed with unmanipulated marrow stem cells from his EBV-positive HLA-identical sister after conditioning with dexamethasone (1.75 mg/kg/day), cyclophosphamide (114 mg/kg) and etoposide (10 mg/kg), with no immunosuppression given post transplant. Engraftment occurred on day 6 with explosive proliferation of donor CD8(+) T cells. The patient died 3 days later from acute respiratory distress syndrome. Autopsy revealed full donor engraftment and no signs of hemophagocytic lymphohistiocytosis or B lymphoproliferative disease. Thus, transplanted T cells can expand very rapidly within days after BMT and clear EBV lymphoproliferative disease and hemophagocytic lymphohistiocytosis.

Bone marrow transplantation for familial hemophagocytic lymphohistiocytosis.

A one year old child diagnosed at two months as having familial hemophagocytic lymphohistiocytosis had a partial response to etoposide. He relapsed and underwent a bone marrow transplant after conditioning with etoposide 65 mg/kg, total body irradiation and cyclophosphamide 60 mg/kg X 2 doses. Post transplant sepsis ensued and the patient expired. At autopsy residual disease was noted. Familial hemophagocytic lymphohistiocytosis continues to be a fatal disorder and etoposide is the only agent known so far with any efficacy. Bone marrow transplantation probably should be attempted early in its course and may have a role in the treatment of this disease.