Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0015672 (fatigue)
 51,768 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Multicentric reticulohistiocytosis (MRH) is a rare systemic inflammatory granulomatous disease marked by severe and often rapidly progressive polyarticular arthritis and cutaneous papulonodules. Initial clinical diagnosis may be difficult. We describe a 2-year-old girl presenting with pink dermal papules on the forehead, thighs, elbows, knees, and palms of the hands. Based on clinical findings and skin biopsy results, she was initially diagnosed with granuloma annulare. At 5 years of age, she developed arthritis, fatigue, and more widespread skin papules leading to the diagnosis of MRH. To our knowledge, this is the youngest individual with MRH yet described. We outline the timeline and unique features of her case and review the literature pertaining to MRH in children. Although rare, MRH can be permanently debilitating, making prompt diagnosis critical. A standardized approach to investigation and management needs to be developed.
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PMID:Multicentric reticulohistiocytosis: a case report of an atypical presentation in a 2-year-old. 2572 69

Copa syndrome is a newly described autosomal dominant autoinflammatory disease that presents as pulmonary hemosiderosis and polyarticular arthritis. Twenty-one cases from five families have been reported to date. We present chest computed tomography (CT) and temporomandibular joint magnetic resonance (MR) findings of a 12-year-old boy presenting with dyspnea on exertion, fatigue and clubbing. Additional findings included a restrictive pattern of pulmonary involvement and positive inflammatory markers and autoantibodies. Genetic testing revealed a p.W240R variant of the COPA gene confirming the diagnosis of Copa syndrome. CT of the chest showed a nonspecific interstitial pneumonia pattern distributed mainly in the lower lobes. MR of the temporomandibular joints and follow-up CT three years later are also described.
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PMID:Imaging findings of Copa syndrome in a 12-year-old boy. 2895 95