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lipodystrophy/fiebre
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Mesenteric lipodystrophy with fever of unknown origin and mesenteric calcifications.
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Mesenteric lipodystrophy (ML) is a rare condition characterized by a nonspecific inflammatory process that involves the root of the mesentery in a lipoma-like lesion. Presenting features of ML include abdominal pain, weight loss, nausea, vomiting, diarrhea, and constipation. This case illustrates
A case of periodic-fever-syndrome-like disorder with lipodystrophy, myositis, and autoimmune abnormalities.
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A 24-year-old Japanese woman had been suffering from a periodic fever since 10 months of age. She developed deformities in her fingers, with severe atrophy of subcutaneous adipose tissue, myositis, and frostbitten hands. She showed elevated C-reactive protein, creatine kinase, and gamma-globulin.
Fever, lipodystrophy and cutaneous lesions.
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Recurrent fevers, progressive lipodystrophy and annular plaques in a child.
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Intestinal lipodystrophy (Whipple's disease): a cause of unexplained fever.
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Periodontal Manifestations of Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy and Elevated Temperature (CANDLE) Syndrome in an 11-Year-Old Patient
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Introduction: Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) is an autoinflammatory syndrome caused by an autosomal recessive gene mutation. This very rare syndrome has been reported in only
Partial lipodystrophy in a girl.
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A 9-year old girl presented with a 2-year history of severe loss of subcutaneous fat in her face. Her medical history included a self-limited episode of jaundice and mild fever 2 years prior. Laboratory examination revealed low serum C3 but normal serum C4. Renal function tests were normal. Low C3
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome: a case report.
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Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome is a recently described chronic inflammatory syndrome consisting of widespread annular violaceous skin lesions and multisystemic inflammatory manifestations. We report a 12½-year-old boy with a young-age
A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans.
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Proteasomes are multisubunit proteases that play a critical role in maintaining cellular function through the selective degradation of ubiquitinated proteins. When 3 additional β subunits, expression of which is induced by IFN-γ, are substituted for their constitutively expressed counterparts, the
Cytophagic histiocytic panniculitis evolving into total lipodystrophy.
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A 15-year-old boy had persistent fever with severe neutropenia, thrombocytopenia, coagulation disorder, and marked elevation of lactate dehydrogenase values. A diagnosis of cytophagic histiocytic panniculitis was made after repeated skin biopsies. Three years after onset, he gradually lost 20 kg in
How to diagnose a lipodystrophy syndrome.
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The spectrum of adipose tissue diseases ranges from obesity to lipodystrophy, and is accompanied by insulin resistance syndrome, which promotes the occurrence of type 2 diabetes, dyslipidemia and cardiovascular complications. Lipodystrophy refers to a group of rare diseases characterized by the
CANDLE syndrome: chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature-a rare case with a novel mutation.
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We described herein a patient with chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome and a novel mutation in PSMB8 gene. This patient had multiple visceral inflammatory involvements, including rare manifestations, such as Sweet syndrome and
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome.
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Several syndromes manifest as recurrent daily fevers, skin lesions, and multisystem inflammation. We describe 4 patients with early-onset recurrent fevers, annular violaceous plaques, persistent violaceous eyelid swelling, low weight and height, lipodystrophy, hepatomegaly, and a range of visceral
Q fever: a new cause of 'doughnut' granulomatous lobular panniculitis.
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Q fever is an uncommon zoonotic rickettsial disease with no exanthem or specific cutaneous lesions. Only nonspecific cutaneous involvement has been reported to date. A 69-year-old Spanish woman with chronic myelogenous leukaemia developed fever and two subcutaneous nodules. The patient complained of
Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy.
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Nakajo-Nishimura syndrome (ORPHA2615; also registered as Nakajo syndrome in OMIM#256040) is a distinct inherited inflammatory and wasting disease, originally reported from Japan. This disease usually begins in early infancy with a pernio-like rash, especially in winter. The patients develop periodic
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