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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
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
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 (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
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 (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
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
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
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
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,
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
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,
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
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