Infantile Systemic Hyalinosis: A Clinical Masquerader for Clinicians

Abstract

Infantile systemic hyalinosis (ISH) is an extremely rare disorder inherited in an autosomal recessive manner. The syndrome clinically presents with multiple joint contractures with chronic severe pain, papulonodular skin lesions, hypotonia, gingival enlargement, developmental delay, and systemic manifestations. In this case report, we present the case of a 21-month-old Indian girl with ISH. This case demonstrates that ISH, though rare, should be considered in differential diagnosis in patients with subcutaneous nodules and raised lesions on the face and neck.