Cases reported "Skin Diseases"

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1/222. Superficial and deep granulomatous lesions caused by trichophyton violaceum.

    A patient with cutaneous and reticulo-endothelial lesions, lymphadenopathy and osteitis caused by trichophyton violaceum is presented. Two types of skin lesions were found: 1. Erythematous, scaly plaques on the arms, chest and abdomen; 2. areas of diffuse infiltration, granulomatous ulceration, fistulation and destruction of the sternal bone. Long-term treatment with penicillin, streptomycin, sulfonamides, and griseofulvin, gave temporary improvement.
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keywords = bone
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2/222. Cutaneous waldenstrom macroglobulinemia in transformation.

    waldenstrom macroglobulinemia is a low-grade B-cell lymphoproliferative disorder of the elderly with characteristic monoclonal IgM-producing neoplastic infiltrates of the bone marrow, lymph node, and spleen. Cutaneous manifestations are usually nonspecific such as purpura, ulcers, and urticarial lesions. These lesions are caused by hyperviscosity of the blood, immune complex-mediated vascular damage, paraprotein deposition, and amyloid deposition. Specific skin lesions occur rarely and generally consist of translucent, flesh-colored papules composed of monoclonal IgM deposits. Rarely, there may be violaceous lesions composed of low-grade lymphoplasmacytic infiltrates characteristic of waldenstrom macroglobulinemia. Both cutaneous manifestations of the disease, as well as disease transformation to high-grade, large cell lymphoma are rare. We report two very unusual cases of waldenstrom macroglobulinemia with documented skin disease that demonstrated transformation to high-grade lymphoma. Both patients were elderly men with long-standing waldenstrom macroglobulinemia involving the bone marrow, who subsequently developed skin involvement by the disease. waldenstrom macroglobulinemia can rarely manifest as cutaneous disease, sometimes as a high-grade transformation of low-grade waldenstrom macroglobulinemia elsewhere. Distinction of cases of transformed waldenstrom macroglobulinemia from de novo cutaneous large cell lymphoma may be important, because the two entities are likely biologically different.
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keywords = bone
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3/222. Skin eruption as the presenting sign of Hunter syndrome IIB.

    We present a case of Hunter syndrome diagnosed because of skin eruption. A 4-year-old Japanese boy presented with a 3-4-months history of papular lesions on the back and extremities. His growth and development were almost normal. His face was not of coarse appearance. He had multiple, whitish to skin-coloured, papules and nodules symmetrically distributed on the scapular regions and the extensor aspects of the upper arms and thighs. There was no family history of similar symptoms. Skin biopsy showed the deposition of a considerable amount of mucin in the dermis. Although physical examinations failed to detect any other signs of Hunter syndrome, x-rays showed the characteristic features of mucopolysaccharidosis: deformities of the vertebral bone, ribs, and pelvis. Mucopolysaccharide analysis of the urine revealed a marked increase in dermatan sulphate and heparan sulphate. The activity of iduronate sulphatase in the lymphocytes was deficient, which was diagnostic for Hunter syndrome. We emphasize that the skin eruption can be the earliest sign of Hunter syndrome, particularly in the mild form presenting with normal development and growth.
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keywords = bone
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4/222. Neutrophilic dermatosis-associated sterile chronic multifocal osteomyelitis in pediatric patients: case report and review.

    Atypical pyoderma gangrenosum (PG) and sweet syndrome are neutrophilic dermatoses that share some common features. Sterile chronic recurrent multifocal osteomyelitis is a rare association of these neutrophilic dermatoses that has only been reported in children. We report a 3-year-old girl who initially presented with pain in her left hand and right leg. Roentgenograms and bone scan revealed findings of multifocal osteomyelitis affecting both femurs, the right tibia, left clavicle, right eighth costochondral junction, and left ulna. She was treated with antibiotics without improvement. Bone biopsy of the left ulna revealed histologic changes consistent with osteomyelitis, however, all cultures for bacteria, mycobacteria, and fungi were negative. She subsequently developed an ulcer surrounded by a violaceous, undermined border at the site of the bone biopsy, which also did not improve during antibiotic treatment. A biopsy specimen from this lesion demonstrated a dense perivascular and periappendageal infiltrate of neutrophils within the dermis and edema of the papillary dermis compatible with a neutrophilic dermatosis. She was treated with oral prednisone which resulted in resolution of skin lesions, bone pain, and soft tissue swelling. This case further documents the association between PG or sweet syndrome and multifocal sterile osteomyelitis.
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keywords = bone
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5/222. Epstein Barr virus-associated lymphoproliferative-disorders primarily involving the skin.

    In cases of solid organ or bone marrow transplantation, up to 2 to 10% of patients may develop lymphoproliferative disorders (LPD), often induced by Epstein-Barr virus (EBV). Despite a morphology mimicking malignant lymphoma, in some cases the lesions will disappear completely after the degree of immunosuppression is lowered. Lately, similar processes have been described in non-transplant, immunosuppressed patients. A SNOMED search was performed on the database of three hospitals between 1990 and 1997, to identify patients with immunosuppression-related lymphoproliferative disorders (IR-LPD) involving primarily the skin. Two patients were identified. One was 2 years after kidney transplantation, and the other was being treated with methotrexate for dermatomyositis. In both biopsies, there was a diffuse perivascular proliferation of large lymphocytes with ample cytoplasm and pleomorphic nuclei, associated with extensive dermal and subcutaneous necrosis. Immunohistochemical studies revealed expression of CD20, CD45RO, CD43, CD30, EBV-LMP1, and EBV-NA2 by the atypical lymphocytes in both cases and, in one case, of the EBV-transcriptional replication activation protein. In both cases the lesions completely disappeared and have not recurred. Primary involvement of the skin by IR-LPD is very rare. Based on our results, it is possible that some of these cases in the skin contain EBV and co-express CD30 and T- and B-cell markers. The diagnosis of IR-LPD should be considered in cutaneous lymphoid proliferations in immunosuppressed patients. Before rendering an unequivocal diagnosis of malignant lymphoma, reduction of immunosuppression and follow-up of 4-8 weeks should be considered.
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keywords = bone
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6/222. The role of trisomy 8 in the pathogenesis of chronic eosinophilic leukemia.

    A case of chronic eosinophilic leukemia (CEL) manifesting as spinal cord compression by an extradural eosinophilic chloroma in a 32-year-old Chinese man was presented, who subsequently developed extramedullary transformation at the skin and then peritoneal cavity. Cytogenetic study of bone marrow cells at diagnosis showed a clonal karyotypic abnormality of trisomy 8 ( 8), which on fluorescence in situ hybridization (FISH) was shown to be present in a clone of abnormal eosinophils, hence showing the neoplastic nature of the eosinophilic proliferation. There was another population of abnormal eosinophils that did not show 8. At blastic transformation, all blast cells in ascitic fluid were shown by FISH to harbor 8. These findings suggest that 8 in this case may have arisen from clonal evolution and is not the primary genetic event in leukemogenesis, but 8 most probably imparts a further survival advantage to the clone responsible for subsequent blastic transformation.
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ranking = 1
keywords = bone
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7/222. Cutaneous lesions as the presenting sign of acute graft-versus-host disease following liver transplantation.

    Acute graft-versus-host disease (GVHD) is a frequent complication of bone marrow transplantation but is only rarely observed after solid organ transplantation. We describe a 68-year-old man who developed a maculopapular eruption 7 days following orthotopic liver transplantation for cirrhosis with malignant transformation due to haemochromatosis. At day 20, the patient complained of nausea, vomiting, diarrhoea and fever. Skin biopsy revealed a lymphocytic infiltrate at the dermoepidermal interface, vacuolization of basal cells and epidermal dyskeratosis. immunohistochemistry showed HLA-DR and intercellular adhesion molecule-1 expression of lesional keratinocytes. HLA-typing of peripheral blood lymphocytes demonstrated circulating lymphocytes of donor origin. endoscopy revealed extensive erosions of the oesophagus, stomach and duodenum that on histology disclosed multifocal loss of crypts, lymphocytic infiltrates and epithelial cell death. A diagnosis of acute GVHD was made, and high-dose immunosuppressive therapy with azathioprine and methylprednisolone was instituted. The skin and gastrointestinal symptoms subsided within 4 weeks, but the patient died from severe infectious complications 105 days after transplantation. We conclude that acute GVHD is a rare but potentially fatal complication of liver transplantation. Skin lesions are an early sign of acute GVHD and thus represent an important tool for early diagnosis.
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keywords = bone
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8/222. oral manifestations of Schimmelpenning syndrome: case report and review of literature.

    Schimmelpenning syndrome (SS) is characterised by specific skin manifestations, skeletal defects, and central nervous system abnormalities. Here, the SS is briefly reviewed, and the oral and dental manifestations are described in a patient whose medical findings were previously published and included severe hypophosphatemic rickets. Significant oral and dental features included papillomatous lesions of the gingiva, hemihyperplasia (hemihypertrophy) of the tongue, bone cysts, aplasia of teeth, enlarged pulp chambers, hypoplastic or absent enamel, and an odontodysplasia-like permanent tooth.
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keywords = bone
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9/222. Glial heterotopia in the subcutaneous tissue overlying T-12.

    Heterotopic glial nodules occur most commonly in the head and neck area, and are theorized to arise following abnormalities in the development of the facial and skull bone plates. However, in spite of the fact that some of these lesions are associated with communication with the central nervous system (CNS), the lack of a meningeal component, argues against simple herniation and separation of brain tissue through a defect in the skull. We present an infant with a nodule directly over the spine present in the T-12 region with no skin abnormalities. magnetic resonance imaging (MRI) and computerized axial tomography (CT) showed no spinal abnormalities with an overlying fibrotic soft tissue mass. The patient had no other associated clinical findings. Histologic findings showed a cellular component arising within the reticular dermis with a deep circumscribed margin. The nodule contained irregularly shaped cells containing abundant cytoplasm and indistinct cellular margins with bland nuclei. These cells were clustered around and between a fibro-mucinous stroma. Immunohistochemical stains showed positive staining for S-100 protein, vimentin, GFAP, NSE, and CD57, and negative staining for Ki-67, CD34, Neurofilament protein, cytokeratin, and EMA. The spindle cells showed positive staining for CD34 and vimentin. The clinical and histologic features and immunohistochemical profiles are used to separate this lesion from the closely related, ependymal rests, ependymomas, and primary cutaneous chorodomas.
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keywords = bone
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10/222. A case of acute promyelocytic leukaemia with bullous, haemorrhagic and necrotic skin lesions.

    Erythematous-oedematous-bullous skin lesions with necrotic vegetating and haemorrhagic evolution evocating atypical pemphigur or bullous reticulosis, revealed acute promyelocytic leukaemia. Histologically, vesicles and bullae were observed in the Malpighian layer and a dense infiltrate with atypical blasts in the dermis. Atypical promyelocytes (22%) were found in the bone marrow. The cytochemical features of promyelocytes, haemorrhage due to disseminated intravascular coagulation supported the diagnosis.
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