Poster Presentation (Doctor’s Session)This journal issue contain Proceedings of the CongressBACKGROUND: Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder characterized by abnormal hyaline deposits in the papillary dermis and other tissues. It presents in early infancy with severe pain with movement, progressive joint contractures, thickened skin and hyperpigmented macules over bony prominence. Gingival hypertrophy, skin nodules, perianal masses are common but late findings. We report a female infant with ISH and subsequently confirmed to have known pathogenic mutations in the ANTXR2 ...postprin
