Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 8-yr-old girl is described who developed eosinophilic fasciitis in the left arm from the shoulder down to the tips of the fingers, after extreme effort. The clinical and histological appearance were typical and so was the benign outcome, but the age was unusual and the localized asymmetrical distribution was outstanding and has not been described before.
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PMID:Localized eosinophilic fasciitis in a child. 742 Mar 37

A 52 year old man developed progressive painful swelling of both calves and difficulty walking. Physical examination showed asymmetrical localised swelling with induration and tenderness on palpation. Peripheral blood eosinophilia was noted. Biopsy of deep fascia and muscle showed typical features of eosinophilic fasciitis. He was treated with non-steroidal anti-inflammatory drugs and intensive physiotherapy. The clinical features had completely resolved six months later.
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PMID:Eosinophilic fasciitis: a good response with conservative treatment. 840 64

Fibrodysplasia ossificans progressiva (FOP) is the rare mendelian disease characterized by congenital malformation of the great toes preceding heterotopic ossification (HO) and caused by heterozygous activating mutation of the ACVR1 gene, which encodes the ALK2 receptor for bone morphogenetic proteins. Early adult life is the latest reported presentation for the HO of FOP. The patient of our report first developed HO from FOP at 47 years of age. She had congenital hallux valgus deformity but despite various traumas was previously well. HO began several months after a brief, seemingly viral, illness. Sudden and progressive pain, redness, warmth, and swelling appeared over a scapula. Computed tomography was remarkable for asymmetrical thickening of muscles and fascial planes. At first, the significance of the great toe abnormalities went unrecognized elsewhere, and biopsy for suspected inflammatory fasciitis revealed proliferating fibroblasts with scattered inflammatory cells. Prednisone improved her symptoms but, when tapered, swellings developed on her chest, posterior thorax, and flank, and FOP was diagnosed. Methylprednisolone, methotrexate, and alendronate seemed to help her symptoms, but the lesions worsened and HO appeared and rapidly progressed. Mutation analysis of the ACVR1 gene revealed heterozygosity for a unique missense defect (c.974G>C, p.G325A) that predicted a conservative (mild) amino acid change within the kinase domain of ALK2. Hence, HO in FOP can be delayed until middle-age, and perhaps provoked by a viral illness. Nevertheless, progression of HO can then be rapid despite bisphosphonate and high-dose immunosuppressive therapy. Possibly, our patient's late-onset HO reflects her mild alteration of ALK2 or some protective and therapeutically useful genetic, epigenetic, or nongenetic factor. Recognition of presymptomatic individuals or late-onset HO in FOP should have these patients avoid traumas, treatments, and maybe viral illnesses that can initiate or exacerbate the HO. If the diagnosis of FOP is unclear, ACVR1 mutation analysis is available at certified laboratories.
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PMID:Fibrodysplasia ossificans progressiva: middle-age onset of heterotopic ossification from a unique missense mutation (c.974G>C, p.G325A) in ACVR1. 2213 Dec 72

To investigate the clinical features and finger symptoms of eosinophilic fasciitis (EF), we reviewed five patients with EF. The chief complaint was pain, edema and/or stiffness of the extremities. The distal extremities were affected in all patients, and there was also proximal involvement in one patient. One patient had asymmetrical symptoms. All four patients with upper limb involvement had limited range of motion of the wrist joints, and three of them complained of finger symptoms. Two of these three patients showed slight non-pitting edema of the hands, and the other one had subcutaneous induration of the forearm. All four patients with lower limb symptoms had limited range of motion of the ankle joints, and two showed edema or induration of the legs. Inflammatory changes in the joints were not detected in any of the patients. Two patients displayed neither objective induration nor edema, and two patients had muscle tenderness. In conclusion, finger symptoms of patients with EF might be caused by fasciitis of the forearms, which leads to dysfunction of the long finger flexors and extensors as well as slight edema of hands. Limited range of motion of wrist and/or ankle joints indicates sensitively distal muscle dysfunction caused by fasciitis.
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PMID:Finger stiffness or edema as presenting symptoms of eosinophilic fasciitis. 2624 32

Fournier gangrene is an emergency condition that is associated with a high mortality rate. It is defined as a rapidly progressing infective necrotizing fasciitis of the perineal, perianal, and genital regions. Early diagnosis, broad-spectrum antibiotic coverage, and adequate surgical debridement are crucial and lead to better prognosis and patient survival. There is increasing utilization of computed tomography (CT) in the initial evaluation of Fournier gangrene. CT can confirm the diagnosis in equivocal cases, determine the source of infection, and evaluate the disease extent. In this pictorial review, we discuss the pathogenesis of Fournier gangrene and display the imaging spectrum with an emphasis on CT findings, including asymmetrical fascial thickening, soft tissue stranding, soft tissue gas, collection, and abscess formation. The infection originating from colorectal pathology, the affected anatomy, and the involvement of the abdominal wall are important predictors of mortality. The familiarity of the varied imaging appearance of Fournier gangrene is necessary to provide an accurate diagnosis, and evaluation of disease extent is crucial for optimal surgical debridement.
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PMID:Fournier gangrene: pictorial review. 3234 51