Fibromatosis Juvenile Hyaline

Juvenile Hyalinosis Fibromatosis, Infantile Systemic Hyalinosis

Overview

Type of disease: Rare conditions

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. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.

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