Infantile Systemic Hyalinosis
Infantile Systemic Hyalinosis (ISH) is a genetic condition in which deposition of a hyaline-like substance occurs in many portions of the body including the skin, skeletal muscle, digestive tract, and glands. It is not known how this hyaline-like substance causes disease. Affected children are noted within the first few weeks or months of life to have thickened skin with red lesions or nodules. During infancy, the children develop painful and progressively contracted joints. Diarrhea and recurrent infections can also occur, causing the infants to grow poorly. Overgrowth of the gums of the mouth helps physicians make the diagnosis conclusively, but effective treatments and cures are unknown. Limited studies suggest that this rare condition is inherited in an autosomal recessive mode and occurs in all races and both sexes, and may be related to another condition; Juvenile Hyaline Fibromatosis . Much work, however, remains to be done.
Our laboratory is interested in collecting information and samples from affected children and their families. Together with colleagues worldwide, we are searching for the gene(s) responsible while continuing to better define the disorder. To facilitate this, we encourage physicians with affected patients to contact us.
If you are a family member or health care provider with a patient with ISH and are interested in participating in our research, please contact us. For sample submission, have the parent sign the consent form, complete the ISH/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 ISH can be obtained from the Online Mendelian Inheritance in Man.
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