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Lakkireddy, Maheshwar and Aggarwal, Shagun and Vijaykrishna, C. and Vasundhara, S.C. and Madhulatha, K. (2016) Identical Twins with Infantile Systemic Hyalinosis: Case study and review of literature. Journal of Orthopaedic Case Reports, 6 (1). pp. 69-71. ISSN 2250-0685

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Abstract

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. ISH is commonly misdiagnosed as Arthrogryposis Multiplex Congenita and is often mismanaged with manipulation of the stiff joints and invasive surgical procedures. Prenatal diagnosis by chorionic villus biopsy is possible once causative mutation in a family is identified. Invasive surgical interventions for histopathological analysis can be avoided as clinical features are most often classical and genetic analysis is confirmatory. Management is conservative and symptomatic. We report this case of identical twins with features of ISH in view of its rarity as timely clinical suspicion can avoid painful and invasive procedures for diagnosis and management.

Item Type: Article
Depositing User: Dr P Divakar
Date Deposited: 22 Jun 2016 08:52
Last Modified: 22 Jun 2016 08:52
URI: http://cdfd.sciencecentral.in/id/eprint/729

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