Juvenile hyaline fibromatosis
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 April 2024
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Juvenile hyaline fibromatosis?
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