Identical Twins with Infantile Systemic Hyalinosis: Case study and review of literature.

ABSTRACT:

Introduction

Infantile Systemic Hyalinosis (ISH) is a rare and fatal genetic disorder with mutations in Capillary morphogenesis gene-2 CMG2 / Human anthrax toxin receptor gene-2 ANTXR2 resulting in spindle cell proliferation, altered collagen metabolism with extensive deposition of amorphous eosinophilic PAS positive hyaline material in the connective tissues of various organs. The common presenting features would be progressive stiffness of multiple joints, skin lesions, multiple episodes of protracted infections, prolonged diarrhoea and failure to thrive. ISH is a rapidly progressive painful disorder of infancy with a very short life expectancy.

Case presentation

3 months old identical twins born to a 5th degree consanguinous couple were brought with complaints of excessiv

SUBMITTER: Aggarwal ML 

PROVIDER: S-EPMC4845419 | biostudies-literature | 2016 Jan-Mar

REPOSITORIES: biostudies-literature