Infantile systemic hyalinosis diagnosed as arthrogryposis multiplex congenita - A case report and literature review

Infantile systemic hyalinosis (ISH) is a rare fatal autosomal recessive disorder characterized by hyaline deposition in the skin and internal organs. Children with ISH usually present to orthopedicians due to decreased and painful limb movements with flexed position and are often misdiagnosed due to unnoticed cutaneous involvement. We describe an infant who was diagnosed with arthrogryposis multiplex congenita and is being managed for the same with serial plaster casts over limbs to release contractures. He was referred to the dermatology department for intertrigo, where we observed characteristic frog position of limbs, painful limb movements, and nodules over joints. Histopathology confirmed the hyaline dermal deposition, and the child was diagnosed with ISH. This case highlights the importance of extensive general and systemic examination and a multidisciplinary approach to diagnose rare disorders. Timely referral helps to avoid unnecessary investigations or painful invasive procedures.