Juvenile Hyaline Fibromatosis
Juvenile Hyaline Fibromatosis (JHF) appears to be an autosomal recessive disorder affecting skin, connective tissues, and bones. It results from an alteration in the way different types of collagen are both made and broken down. Symptoms appear in early childhood when multiple non-cancerous tumors just below the skin are noticed. These usually begin on the scalp or the back of the neck. These skin changes continue to develop and the gums of the mouth become thickened. As time passes, the large joints (such as hips and elbows) become contracted and painful.
The gene that causes JHF has not yet been identified. The diagnosis is made by special examination of the abnormal tissue. However, no clear laboratory testing is available for pre-symptomatic, prenatal, or carrier testing. We encourage physicians seeking assistance in making a diagnosis to contact us. Other resources available are listed below.
We are currently attempting to both better define the clinical picture of JHF as well as to search for the gene(s) that result in this collagen abnormality. The participation of additional affected individuals and their families could aid immensely in this effort. Finding the responsible gene is a necessary step in better understanding and treating JHF.
If you are a patient, or have a patient with JHF and are interested in participating in our research, please contact us. For sample submission, have the patient (or parent) sign the consent form, complete the JHF data collection form, and click on how to submit samples.
If you are a patient or family member interested in communicating with other families, please email Dr. Warman . Whenever new family members contact us, emails (or phone numbers) will be exchanged. The Center for the Study of Genetic Bone and Joint Disorders does not monitor communications directly between families, and therefore cannot be responsible for the accuracy of information exchanged.
Additional information on JHF can be obtained from the Online Mendelian Inheritance in Man.
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