Hyaline fibromatosis syndrome
A rare genetic disease characterized by infantile or childhood onset of abnormal growth of hyalinized fibrous tissue giving rise to multiple cutaneous nodules and/or pearly papules predominantly affecting the scalp ears neck face hands and feet. Involvement of other organs results in gingival hyperplasia osteolytic bone lesions and joint contractures. Some patients exhibit visceral involvement with intractable diarrhea increased susceptibility to infections and severe failure to thrive.
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 March 2024
Newly diagnosed with
Hyaline fibromatosis syndrome?
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Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
The Chandler Project
The Chandler Project brings awareness and shines a light on transformative research surrounding achondroplasia and other skeletal dysplasias by offering support to a global community and network of patients, parents, and caregivers seeking information on scientific discoveries, pharmaceutical advancements and surgical treatment options.
Clinical Trials
For a list of clinical trials in this disease area, please click here.