INFANTILE SYSTEMIC HYALINOSIS
By Gary M. White, MD
Infantile systemic hyalinosis (ISH) is a rare, autosomal dominant recessive deposition disorder that causes swollen joint contractures, fleshy nodules, osteoporosis, short stature, and failure to thrive.
- Death is common before 2 years of age.
- ISH is caused by a mutation in the ANTXR2 gene encoding a transmembranous protein involved in endothelial development. The ANTXR2 (also known as CMG2 or capillary morphogenesis protein 2 gene) locus is on chromosome 4q21.
- Mutations in the above gene cause both infantile and juvenile systemic fibromatosis.
Dermatology Online Journal 15(5)
Perianal nodules at Iran J Pediatr. 2014 Dec; 24(6): 775–778.
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