ISSN - 0973-0958
   
 
Hyaline Fibromatosis Syndrome: Report and Literature review of a Rare and Fatal Genetic Disorder
Rajesh K Kulkarni, Aarti A Kinikar, Brijender Prasad, Greeshma Nair, Sagar Vartak.
Department of Pediatrics, B J Government Medical College, Pune, Maharashtra, India.
 
Abstract

Hyaline fibromatosis syndrome is a very rare condition caused by mutations in the ANTXR2 gene and characterized by nodular skin lesions, joint contractures and visceral involvement in the severe variant. Most children who have the severe variant (Infantile systemic hyalinosis-ISH) succumb by 2 years of age while those with milder form (Juvenile Hyaline Fibromatosis-JHF) without visceral involvement may live till second decade. We present an 8 years old boy with overlap features of ISH and JHF and a dysplastic kidney. Association of dysplastic kidney with HFS has not been reported before to the best of our knowledge.
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