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juvenile hyaline fibromatosis
Pathology:
- hyaline deposition in the dermis
Genetics:
1) autosomal recessive
2) associated with defects in ANTXR2 gene
Clinical manifestations:
1) similar to infantile systemic hyalinosis, but has a milder course
2) multiple subcutaneous skin tumors
3) gingival hypertrophy
4) progressive joint contractions
5) osteopenia
Complications:
- severe limitation of mobility
General
genetic syndrome (multisystem disorder)
developmental disorder
Database Correlations
OMIM 228600
References
OMIM :accession 228600