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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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What is juvenile hyaline fibromatosis?

How might the joint contractures associated with juvenile hyaline fibromatosis be treated?

What is juvenile hyaline fibromatosis?

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

How might the joint contractures associated with juvenile hyaline fibromatosis be treated?

It has been suggested that physical therapy may help to treat joint contractures in juvenile hyaline fibromatosis; this therapy should be done with an awareness of the pain tolerance of each affected individual.  Splinting may help reduce pain associated with contractures by stabilizing the joint.[2]
Last updated: 2/16/2012

  1. Juvenile hyaline fibromatosis. Genetics Home Reference. February 2012; Accessed 2/13/2012.
  2. Shieh JTC, Hoyme HE, Arbour LT. Inherited Systemic Hyalinosis. GeneReviews. February 2008; Accessed 2/13/2012.