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Diseases

Genetic and Rare Diseases Information Center (GARD)

Hyaline fibromatosis syndrome


Other Names for this Disease
  • Juvenile hyaline fibromatosis (former subtype)
  • Puretic syndrome
  • Infantile systemic hyalinosis (former subtype)
  • Inherited systemic hyalinosis
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Overview

Hyaline fibromatosis syndrome (HFS) is a condition characterized by deposits of a clear substance (hyaline) in the skin and in various other body tissues. It typically becomes apparent at birth or in infancy, causing severe pain with movement; progressive joint contractures which limit movement; thickened skin; and hyperpigmented patches over prominences of the joints. Other features may include digestive problems; gum enlargement; skin bumps; pearly papules on the face and neck; and masses near the anus (perianal masses). Complications can be life threatening. Many children with the severe form (previously called infantile systemic hyalinosis) die in early childhood, while some with a milder form (previously called juvenile hyaline fibromatosis) survive into adulthood.[1] HFS is caused by mutations in the ANTXR2 gene and is inherited in an autosomal recessive manner.[2] Treatment is supportive and aims to alleviate pain and other signs and symptoms of the condition.[1]
Last updated: 1/7/2016

References

  1. Joseph TC Shieh, H Eugene Hoyme, and Laura T Arbour. Hyalinosis, Inherited Systemic. GeneReviews. April 11, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1525/.
  2. Cassandra L. Kniffin. HYALINE FIBROMATOSIS SYNDROME; HFS. OMIM. January 14, 2013; http://www.omim.org/entry/228600.
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Basic Information

In Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a 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.
    Juvenile hyaline fibromatosis
    Infantile systemic hyalinosis
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hyaline fibromatosis syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Juvenile hyaline fibromatosis (former subtype)
  • Puretic syndrome
  • Infantile systemic hyalinosis (former subtype)
  • Inherited systemic hyalinosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.