Hyaline fibromatosis syndrome

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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 April 2024

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Hyaline fibromatosis syndrome?

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