Juvenile hyaline fibromatosis
Juvenile Hyaline Fibromatosis (juːvənaɪl haɪəlaɪn faɪbroʊməˈtoʊsɪs) is a rare genetic disorder characterized by the accumulation of a clear (hyaline) substance in the skin and various other body tissues. The term "juvenile" refers to the typical onset of symptoms during childhood, while "hyaline" refers to the clear, glassy appearance of the accumulated substance, and "fibromatosis" refers to the growth of fibrous tissue.
Etymology
The term "Juvenile Hyaline Fibromatosis" is derived from the Latin juvenis (young), the Greek hyalos (glass), and the Greek fibra (fiber) and -osis (condition).
Symptoms
Symptoms of Juvenile Hyaline Fibromatosis include skin lesions, joint contractures, gingival hypertrophy, and growth retardation. The severity and progression of symptoms can vary widely among affected individuals.
Causes
Juvenile Hyaline Fibromatosis is caused by mutations in the ANTXR2 gene. This gene provides instructions for making a protein that is involved in the formation and maintenance of various types of connective tissue.
Diagnosis
Diagnosis of Juvenile Hyaline Fibromatosis is typically based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and a variety of specialized tests.
Treatment
Treatment of Juvenile Hyaline Fibromatosis is directed toward the specific symptoms that are apparent in each individual. Treatment may include physical therapy, surgery to remove painful or disfiguring skin lesions, and other supportive measures.
See Also
References
External links
- Medical encyclopedia article on Juvenile hyaline fibromatosis
- Wikipedia's article - Juvenile hyaline fibromatosis
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