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Juvenile hyaline fibromatosis
Other Names for this Disease
- Fibromatosis juvenile hyaline
- Hyalinosis, systemic juvenile
- Infantile systemic hyalinosis
- JHF
- Puretic syndrome
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Overview
Juvenile hyaline fibromatosis is a genetic disease in which bumps develop in the skin and other tissues. The characteristic bumps occur when a substance called hyaline builds up in normal tissues. The bumps form within the first few years of life, can be of various sizes, and may be painful. This condition may also cause increased growth of the gums (gingival hypertrophy), joint contractures which can limit movement, and digestive problems (enteropathy). Individuals with this condition have normal intelligence. Juvenile hyaline fibromatosis is caused by changes (mutations) in the ANTXR2 gene and is inherited in an autosomal recessive manner.[1][2]
References
- Juvenile hyaline fibromatosis. Genetics Home Reference. http://ghr.nlm.nih.gov/condition/juvenile-hyaline-fibromatosis. Accessed February 13, 2012.
- Shieh JTC, Hoyme HE, Arbour LT. Inherited Systemic Hyalinosis. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1525/. Accessed February 13, 2012.
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General Information
- Genetics Home Reference (GHR) contains information on Juvenile hyaline fibromatosis. Click on the link to go to GHR and review the information.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Juvenile hyaline fibromatosis. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Juvenile hyaline fibromatosis. Click on the link to go to OMIM and review these resources.