Abstract :
Infantile systemic hyalinosis (ISH) is a very rare autosomal recessive disorder with histopathologic hallmark of diffuse deposition of hyaline in connective tissues, leading to its varied clinical manifestations and poor prognosis. We report a case of a 5-month-old boy, born as second child to third degree consanguineous parents, who presented with painful joint contractures, and skin hyperpigmentation. Skin biopsy showed amorphous hyaline deposits, and clinical exome sequencing result came as ANTXR2 mutation ,in homozygous state confirming the diagnosis. This case report discussthe clinical features , with a special focus on its histopathological and genetic underpinnings. This report adds to the scant literature on ISH, highlighting the significance of genetic testing for exact diagnosis and the necessity for novel treatment approaches.
Keyword :
Infantile systemic hyalinosis, Hyaline deposition, Joint contracture, Skin nodule