xanthomatosis/lafyèv

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Rheumatic fever in hereditary xanthomatosis.

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A new presentation of isolated cutaneous Rosai-Dorfman disease: Eruptive xanthoma-like lesions.

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Rosai-Dorfman disease or sinus histiocytosis with massive lymphadenopathy is a benign lympho-histiocytic proliferative disorder initially described with bilateral painless lymphadenopathy (90 %), fever, leukocytosis, elevated ESR, anemia, and polyclonal hypergammaglobulinemia (90 %). Extranodal

A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.

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Whole exome sequencing (WES) technologies have accelerated genetic studies of Mendelian disorders, yielding approximately 30% diagnostic success. We encountered a 13-year-old Japanese female initially diagnosed with familial hypercholesterolemia on the basis of clinical manifestations of severe

Sudden death due to cerebrotendinous xanthomatosis confirmed by mutation analysis.

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A case of sudden death of a 52-year-old mentally retarded Caucasian male is described where the rectal temperature was 43.4 degrees C 3 h postmortem. The autopsy revealed cerebrotendinous xanthomatosis (CTX), a rare hereditary metabolic disorder, as the primary disease. The diagnosis was confirmed

[Systemic mast cell disease associated with cutaneous xanthomas and markedly elevated serum IgE].

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Systemic mast cell disease (SMCD) is a rare disease often associated with symptoms of general malaise, pruritus, diarrhea, vomiting, fever, urticaria pigmentosa, hepatosplenomegaly and lymphadenopathy. We reported a case of SMCD associated with cutaneous xanthoma and serum hyper IgE. Skin biopsy

Numerous intertriginous xanthomas in infant: A diagnostic clue for sitosterolemia.

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Sitosterolemia is a very rare autosomal recessive lipoprotein metabolic disorder caused by homozygous or compound heterozygous mutations in one of the two adenosine triphosphate-binding cassette transporter genes, ABCG5 and ABCG8. Sitosterolemia is clinically characterized by xanthomas and

Visceral leishmaniasis (Kala-azar) in two patients with HIV-1 infection: atypical features and response to therapy.

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Visceral leishmaniasis (VL) is a well recognized opportunistic infection in patients with HIV-1 infection, which may occasionally present with atypical features. We describe two patients with advanced HIV-1 infection (CD4<100/ mm3) in whom visceral leishmaniasis presented with atypical features, and

Xanthogranulomatous pyelonephritis.

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A 76-year-old woman presented with spiking fever and right back pain. Ultrasonography (US) revealed that her right kidney was enlarged. Computed tomography (CT) showed the parenchyma was replaced by non-enhancing masses but the overall kidney shape was maintained. These findings were compatible with

Hypercholesterolemic (type II hyperlipoproteinemic) arthritis.

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The rheumatic manifestations of familial hypercholesterolemia include recurrent Achilles pain or tendinitis, acute mono/oligoarthritis and migratory (rheumatic fever-like) polyarthritis. Diagnosis is made by finding skin and tendon xanthomas, hypercholesterolemia, and ruling out other rheumatic

Necrobiotic xanthogranuloma scleritis in a case of granulomatosis with polyangiitis (Wegener's granulomatosis).

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The purpose of this study was to describe a case of necrobiotic xanthogranuloma scleritis in a 53-year-old male with unilateral progressive visual loss, scleritis, prolonged fever, and multiple mononeuropathy. Scleral biopsy showed necrosis with small abscess, and the pathological tissues revealed

Allergic granulomatosis and angiitis (Churg-Strauss syndrome). Report of an autopsy case in a nonasthmatic patient.

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A 54-year-old nonasthmatic man was found to have allergic granulomatosis and angiitis (AGA) (Churg-Strauss syndrome) with pulmonary lesions suggestive of diffuse panbronchiolitis (DPB) at autopsy. The patient, with initial symptoms of cough and sputum, developed progressive dyspnea, eosinophilia,

[Inflammatory type of malignant fibrous histiocytoma in the anterior mediastinum--a case report].

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A 58-year-old female was admitted to our hospital with a complaint of anterior chest tumor, fever of unknown origin and anemia. Chest X-ray films and chest CT scans revealed a large tumor in the anterior mediastinum, there were strong inflammatory reactions in laboratory studies. The tumor was

[Prolonged hepatitis due to ajmaline--description of a case and review of the literature].

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A 60 years old woman was admitted for jaundice and fever which appeared after a treatment with ajmaline-butabarbital for two-weeks. Abdominal ultrasound examination and endoscopic retrograde cholangiography were normal. Mitochondrial antibodies were absent. Jaundice persisted for three years,

A middle-aged woman with back and flank pain.

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Xanthogranulomatous pyelonephritis is an uncommon variant of chronic pyelonephritis that predominantly affects middle-aged women. Patients usually present with fever, back or flank pain, flank mass, and the constitutional symptoms of fatigue, malaise, weight loss, and anorexia. Rarely, they may

Case of the diffuse form of xanthogranulomatous pyelonephritis.

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Xanthogranulomatous pyelonephritis (XGP) is a rare entity and constitutes less than 1% of chronic pyelonephritis. A 71-year-old male was introduced to our department with general malaise and abnormal findings of computed tomography (CT). Abnormal findings of complete blood count and laboratory

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