A Rare Case of Infantile Systemic Hyalinosis: Clinical, Histopathological, and Genetic Insights

Authors: T.M.Ananda Kesavan, Litta Paul, Betsy Ambookan

DOI: 10.18231/j.ijmpo.13229.1759913228

Keywords: Infantile systemic hyalinosis, hyaline deposition, joint contracture, skin nodule

Abstract: Infantile systemic hyalinosis (ISH) is an exceptionally rare autosomal recessive disorder characterized by diffuse hyaline deposition in connective tissues, leading to severe clinical manifestations and poor prognosis. We report a case of a 5-month-old male infant, born to consanguineous parents, presenting with painful joint contractures and skin hyperpigmentation. Skin biopsy revealed amorphous hyaline deposits, and clinical exome sequencing revealed ANTXR2 mutation in exon confirming the diagnosis. This case discusses the clinical features, with a focus on its histopathological and genetic underpinnings. This report adds to the limited literature on ISH, emphasizing the importance of genetic testing for early diagnosis and the need for novel therapeutic strategies.