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Skeletal muscle involvement in infantile systemic hyalinosis
Zarazuela Zolkipli1, Cheryl Longman, Sue Brown
1Department of Paediatrics, Dubowitz Neuromuscular Centre, Hammesmith Hospital, Imperial College London, London W12 0NN, UK.
Insights
Infantile Systemic Hyalinosis (ISH) is a rare genetic disorder. This study reveals that skeletal muscle involvement, previously unreported, contributes to the severe symptoms and poor prognosis in ISH patients.
Area of Science:
- Genetics
- Pathology
- Pediatrics
Background:
- Infantile Systemic Hyalinosis (ISH) is a rare, autosomal recessive disorder characterized by hyaline material deposition in skin, bone, and viscera.
- Clinical manifestations include delayed motor milestones, joint contractures, skin/mucosal hypertrophy, failure to thrive, and osteolytic bone lesions causing pain.
Observation:
- A case of ISH is presented with previously undocumented proximal muscle weakness.
- Muscle biopsy demonstrated myopathic changes, indicating direct skeletal muscle involvement.
Findings:
- This report provides the first evidence of skeletal muscle pathology in Infantile Systemic Hyalinosis.
- The findings suggest that myopathy is a significant component of the disease.
Implications:
- Skeletal muscle involvement in ISH may contribute to the characteristic motor delays and overall poor prognosis.
- Further research into the mechanisms of muscle involvement could lead to novel therapeutic strategies for ISH.
Abstract:
Infantile Systemic Hyalinosis is a rare autosomal recessive entity, characterised by deposition of hyaline material in skin and bone, often complicated by visceral involvement. The characteristic features are marked delay in motor milestones attributed to severe progressive flexion contractures of proximal and distal joints, and skin and mucosal hypertrophy and thickening, followed by failure to thrive. Pain secondary to osteolytic lesions is also a predominant feature. We report a patient with Infantile Systemic Hyalinosis, confirmed by the clinical findings, who also displayed clear evidence of proximal muscle weakness. Muscle biopsy revealed myopathic changes, which have not been reported previously. We suggest that skeletal muscle is involved in Infantile Systemic Hyalinosis and contributes to the characteristic poor outcome of these patients.
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