juvenile hyaline fibromatosis

Pathology

• hyaline deposition in the dermis

Genetics

• autosomal recessive
• associated with defects in ANTXR2 gene

Clinical manifestations

• similar to infantile systemic hyalinosis, but has a milder course
• multiple subcutaneous skin tumors
• gingival hypertrophy
• progressive joint contractions
• osteopenia

Complications

• severe limitation of mobility

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder

Database

• OMIM: https://mirror.omim.org/entry/228600