This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
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.[10364] HFS is caused by mutations in the ANTXR2 gene and is inherited in an autosomal recessive manner.[10365] Treatment is supportive and aims to alleviate pain and other signs and symptoms of the condition.[10364]
For more information, visit GARD.
