Hyaline fibromatosis syndrome is a very rare autosomal recessive disease of connective tissue characterized by abnormal synthesis of hyaline, a collagen like substance, painful progressive joint contractures, thickened skin with hyperpigmentation over prominences, small pearly facial papules, gingival hypertrophy, fleshy nodules in the perianal region, diarrhea, increased susceptibility to bone fractures, infections, and failure to thrive. Affected patients may die within the first two years of life, mostly due to chronic diarrhea and recurrent infections. For patients who survive until adulthood, mobility remains severely restricted by joint contractures.
Hyaline fibromatosis syndrome is caused by mutations in the ANTXR2 gene. These mutations cause an accumulation of a hyaline substance in different parts of the body.
