Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

BACKGROUND Ischemic fasciitis is a rare condition that occurs in debilitated and immobilized individuals, usually overlying bony protuberances. Because the histology shows a pseudosarcomatous proliferation of atypical fibroblasts, and because the lesion can increase in size, ischemic fasciitis can mimic sarcoma. Beta-propeller protein-associated neurodegeneration (BPAN) arises in infancy and is due to mutations in the WDR45 gene on the X chromosome. BPAN results in progressive symptoms of dystonia, Parkinsonism, and dementia once the individual reaches adolescence or early adulthood, and is usually fatal before old age. A case of ischemic fasciitis of the buttock is presented in an adult woman with BPAN. CASE REPORT A 40-year-old woman with BPAN and symptoms of mental and physical deterioration, had become increasingly wheelchair-dependent and presented with a mass in her buttock that had been increasing in size for two months. Computed tomography (CT) imaging showed an ill-defined subcutaneous lesion between the dermis and the gluteal muscle, which was suspicious for malignancy. A needle biopsy of the mass was performed. The histology examination showed benign ischemic fasciitis. A follow-up CT scan performed 3.5 months after identification of the lesion showed that it had decreased in size. CONCLUSIONS Ischemic fasciitis is a rare condition that is associated with immobility. Because BPAN is a neurodegenerative disease that can cause immobility, a history of BPAN in patients of all ages may be associated with an increased risk of developing ischemic fasciitis. The correct diagnosis is essential, as ischemic fasciitis, although benign, can mimic malignancy.
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PMID:Ischemic Fasciitis of the Left Buttock in a 40-Year-Old Woman with Beta-Propeller Protein-Associated Neurodegeneration (BPAN). 3034 Dec 75