Hyaline fibromatosis syndrome

How is hyaline fibromatosis syndrome inherited?

Hyaline fibromatosis syndrome is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:

  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not be a carrier.

Once an at-risk sibling of an affected person is known to be unaffected, the chance for that sibling to be a carrier is about 67% (2 in 3).

If the disease-causing mutations have been identified in an affected family member, prenatal testing for at-risk pregnancies may be available. The use of prenatal ultrasound for detecting HFS is unclear, but in a pregnancy at risk, detecting decreased fetal activity and contractures could suggest recurrence. Preimplantation genetic diagnosis (PGD) may be an option for some families in which the disease- causing mutations have been identified.

People with a family history of HFS are encouraged to speak with a genetic counselor or other genetics professional.

Last updated on 05-01-20

What is the long-term outlook for people with hyaline fibromatosis syndrome?

The severity of hyaline fibromatosis syndrome (HFS) can vary broadly. The long-term outlook (prognosis) for people with HFS depends on how severely a person is affected. Overall, the prognosis is poor, especially for those with systemic involvement. The disorder typically progresses, with the continual appearance of new lesions. However, even within severe and mild forms, the degree of severity and specific signs and symptoms can vary. This spectrum of severity and features is the reason that the terms 'hyaline fibromatosis syndrome' or 'inherited systemic hyalinosis' are now used, rather than terms defining severe (infantile) and milder (juvenile) forms as distinct entities.

Children with severe forms (previously called infantile systemic hyalinosis) often don't survive past early childhood. Some with milder forms (previously called juvenile hyaline fibromatosis) survive into adulthood. Although joint contractures, skin hyperpigmentation, and lesions occur with the milder form, the other features may vary, the pain is less severe, and disability may be less pronounced. Pain may lessen with age. Risks of potentially life-threatening complications in people with HFS may be due to persistent diarrhea, infections, and malnutrition. There is currently no cure for HFS, and treatment generally aims to alleviate signs and symptoms.

While cognitive function is typically normal, cases of delayed development have been reported.

Last updated on 05-01-20

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.

Last updated on 05-01-20

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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