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Genetic and Rare Diseases Information Center (GARD)

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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]
Last updated: 2/16/2012

References

  1. Juvenile hyaline fibromatosis. Genetics Home Reference. February 2012; http://ghr.nlm.nih.gov/condition/juvenile-hyaline-fibromatosis. Accessed 2/13/2012.
  2. Shieh JTC, Hoyme HE, Arbour LT. Inherited Systemic Hyalinosis. GeneReviews. February 2008; http://www.ncbi.nlm.nih.gov/books/NBK1525/. Accessed 2/13/2012.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Juvenile hyaline fibromatosis. This website is maintained by the National Library of Medicine.

In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs.  Access to this database is free of charge.
  • 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.