Myopathic changes in muscle biopsy of a patient with infantile systemic hyalinosis

Infantile systemic hyalinosis is an autosomal recessive disorder characterized by congenital progressive joint contractures, facial dysmorphism, erythematous and papular rash, perianal nodules and protein-losing enteropathy. Clinical onset of the disease is usually within the first few weeks of life. Hyaline deposits are seen in the skin, gastrointestinal system and other visceral organs. A 10-month-old girl was admitted for progressive joint contractures, diarrhea and failure to thrive. She had erythematous rash under her neck, around the ears and nape. There were tiny and pearly red papules on her face. Thickening of the skin, hyperpigmentation over buttocks and hyperpigmented perianal nodules were also apparent. Although she had normal creatine kinase activity and electromyography findings, muscle biopsy showed mild myopathic changes including fiber size variation. There are few reports describing muscular involvement in infantile systemic hyalinosis. Here we present an infant with infantile systemic hyalinosis who had proximal muscle weakness and myopathic changes on muscle biopsy.

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