infantile systemic hyalinosis

Pathology

• hyaline deposits in multiple organs

Genetics

• autosomal recessive
• associated with defects in ANTXR2 gene

Clinical manifestations

• similar to juvenile hyaline fibromatosis, but has an earlier onset & a more severe course
• symptoms appear at birth or within the 1st months of life
• painful, swollen joint contractures
• osteopenia
• livid red hyperpigmentation over bony prominences
• patients develop multiple subcutaneous skin tumors & gingival hypertrophy
• recurrent infections
• intractable diarrhea
• high infant mortality

Complications

• severely reduced mobility due to joint contractures in surviving children

More general terms

• genetic syndrome (multisystem disorder)
• developmental disorder

Database

• OMIM: https://mirror.omim.org/entry/236490