Rosai-Dorfman disease in a child with involvement of extra-nodal wrist joint.

Rosai-Dorfman Disease (RDD) is a benign condition primarily affecting the lymph nodes. The term sinus histiocytosis with massive lymphadenopathy was first used. There may be extra-nodal presentation of RDD with or without constitutional symptoms. A 10-year-old boy presented with massive bilateral cervical lymphadenopathy which mimicked the diagnosis of lymphoma. We describe here a case of RDD in a child with extra-nodal bone involvement of the wrist joint, its diagnosis by histopathological examination supported by immunohistochemistry and consequent initial management.

A Case of Type I Sialidosis With Osteonecrosis Revealing a New Mutation in NEU1

Abstract Sialidosis is a rare lysosomal storage disease. The 2 forms described are as follows: the early-onset form, or type II, presents with dysostosis multiplex, while the late-onset form, or type I, does not involve bone in the literature. We report the case of a 42-year-old woman with type I sialidosis who presents with osteonecrosis of both humeral and femoral heads. Molecular study reveals a never listed mutation of NEU1 in exon 5, p.Gly273Asp (c.818G>A), and a second known missense mutation.

Mastocitosis sistémica: repercusión ósea / Systemic mastocytosis: bone impact

La mastocitosis sistémica es una enfermedad caracterizada por acumulación de mastocitos en varios órganos, de los cuales el más afectado es la piel. La repercusión ósea de esta enfermedad es poco frecuente y en general se la asocia al desarrollo de osteoporosis secundaria con o sin fracturas óseas. Se presentan tres pacientes con lesiones características en piel de mastocitosis y diferentes manifestaciones óseas; el primer caso es una mujer de 51 años en la que se observó una variante esclerosante muy poco frecuente, con densitometría ósea en valores normales-altos y aumento de la densidad ósea observada en varias vértebras por radiografías. Una punción-biopsia de cresta ilíaca confirmó el compromiso óseo de su enfermedad de base. El segundo caso fue una mujer de 57 años que mostró signos característicos de mastocitosis sistémica con diarreas, gastritis, flushes y reacciones cutáneas particulares ante exposición a alérgenos. Se observó además grave disminución de la densidad mineral ósea tanto en columna lumbar como en cuello de fémur con parámetros bioquímicos de aumento de la resorción ósea, por lo que fue necesario tratarla con bisfosfonatos. La tercera paciente, de 67 años de edad, presentó varias fracturas vertebrales, con densitometría ósea levemente disminuida. En esta última paciente se constató una hiperplaquetosis con diagnóstico histológico de trombocitemia esencial, cuadro que suele asociarse a la mastocitosis sistémica. En definitiva, se presentan y discuten tres variantes óseas diferentes de mastocitosis sistémica.

Systemic mastocytosis is a disease characterized by accumulation of mast cells in various organs of which the most affected is the skin. The bone impact of this disease is very rare and generally associated with the development of secondary osteoporosis with or without fractures. We present three cases of patients with skin mastocytosis lesions and different bone manifestations; the first case was a 51 year old woman in whom we observed a rare sclerosing variant with a normal-high bone density and increased density presented in several vertebrae x-rays. An iliac crest biopsy confirmed bone involvement of the underlying disease. The second case was a 57 year old woman who had characteristic signs of systemic mastocytosis with diarrhea, gastritis, flushes and specific cutaneous reactions to exposure to allergens. She also presented severe decrease in bone mineral density in both lumbar spine and femoral neck, with biochemical parameters of increased bone resorption, so had to be treated with bisphosphonates. The third patient, a 67-year-old woman, had several vertebral fractures, with slightly decreased bone densitometry. This last patient showed a hiperplaquetosis with histological diagnosis of essential thrombocythemia, a picture usually associated with systemic mastocytosis. In conclution, we present and discuss three different bone variants of systemic mastocytosis.

Clinical Manifestation of Childhood Acute Leukemia with Bone Involvement

PURPOSE: Bone involvement is known to develop in 40-70Yo of pediatric acute leukemia. We aimed to analyze the clinical course and result of therapy in pediatric acute leukemia with bone involvement. METHODS: Twenty-seven patients diagnosed as pediatric acute leukemia at Dong San Medical Center from Jan. 1996 to Aug. 1998 were evaluated. According to bone X-ray and whole body bone scan, the patients were divided into two groups. RESULTS: Twenty-seven patients were enrolled in this study with 14 patients(52Yo) showing definite bone involvement on simple X-ray or bone scan. Mean age of patients with bone involvement was 5.5 years. Regarding the type of leukemia, 9 patients(64%) were acute lymphocytic leukemia. Ten patients(71%) out of 14 with bone involvement complained of bone pain at the involved bony site. Site of involvement was most frequent in the lower extremity. On simple X-ray, osteolytic lesion was found in 7 patients(50%), diffuse osteopenia in 2 patients(14%) and pathologic fracture in 2 patients(14%). In bone scan, radioactivity was increased in whole cases of patients with bone involvement. Thirteen patients(93%) were completely remitted by chemo-therapy, but, one AML patient died due to induction failure. CONCLUSION: Bone involvement occured in 52% of pediatric acute leukemia. Bone involvement was more frequent in male patients in the lower extremity, and osteolytic lesion was the most frequent finding on simple X-ray. There was no relevence between bone involvement and prognosis. Further study will be needed to evaluate long-term survival and prognosis. (J Korean Pediatr Soc 2000;43:806-813)

A Case of Cylindroma

Cylindroma has been called dermal eccrine cylindroma and turban tumor since it was first described by Ancell in 1842. These tumor usually begin as small nodules and continue to grow slowly up to serveral centimeters. The tumor most commonly appears on scalp and face. They have been given the name turban tumor because they sometimes have covered the entire scalp like a turban. The tumor rarely undergone malignant degeneration. We have found a case of cylindroma that have malignant change with skull bone involvement, thus we present this case with review of the other reports.

A Case of Malignant Schwannoma in the Sacrum

Malignant schwannoma is a relatively rare malignant neoplasm arising from schwann cell of neuroectodermal origin that infiltrate locally and widely, and metastases. Inreaosseous bone involvement or retroperitoneal location of this tumor is extremely rare. A rare case of solitary malignant schwannoma which originated in the sacrum and extended to the retroperitoneal space in a 34 year-old male without neurofibromatosis reported. Simple X-ray showed not sclerotic, smooth marginated lytic defect in the right sacral bone. Computed tomography(CT) of sacrum revealed homogenous soft mass with intraosseous and dumbel shaped retroperitoneal extension without enhancement after were appeared in serial iliac artery angiogram. We could remove the tumor mass without specific technical difficulty with the help of CT and angiographic findings.