Juvenile hyaline fibromatosis

Get in touch with RARE Concierge.

Contact RARE Concierge

Synonyms: Murray-Puretic-Drescher syndrome | Puretic syndrome

A rare hyaline fibromatosis syndrome characterized by papulo-nodular skin lesions (especially around the head and neck) soft tissue masses gingival hypertrophy joint contractures and osteolytic bone lesions in variable degrees. Joint contractures may cripple patients and delay normal motor development if occuring in infancy. Severe gingival hyperplasia can interfere with eating and delay dentition. Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in an amorphous hyaline material.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

Newly diagnosed with
Juvenile hyaline fibromatosis?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

My Little Sunshine Foundation

My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.


Educate and provide resources to POC with Rare Cancers

Don't see your organization here. Let us know here.

Clinical Trials

For a list of clinical trials in this disease area, please click here.