Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0005940 (bone disease)
 7,459 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Juvenile hyaline fibromatosis (JHF) is an extremely rare autosomal recessive disease with less than a hundred cases reported worldwide and is more prevalent in the middle east due to higher rates of interfamilial marriages. Manifestations can be debilitating, and patients typically present with decreased joint mobility, gingival hypertrophy, nodular skin lesions, papulonodular skin lesions and osteolytic bone disease. JHF is a relatively mild presentation of the hyaline fibromatosis syndrome (HFS) family of diseases, with Infantile hyaline fibromatosis (IHF) being the more lethal form. A mutation of the (CMG2) gene on chromosome 4q21 is hypothesized to result in the abnormal deposition of amorphous hyaline substance in different body tissues. There are few studies that evaluated the role of surgery, corticosteroid therapy and physiotherapy or a combination of these modalities in providing symptomatic relief. In our paper, we present a literature review and case presentation for 28-year-old women with JHF, treated with surgical excision and corticosteroid therapy. Early surgical treatment provided instantaneous and more sustainable results, while corticosteroids can be used as alternative modalities with temporary outcomes.
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PMID:Juvenile Hyaline Fibromatosis: Literature Review and a Case Treated With Surgical Excision and Corticosteroid. 3317 31