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Infantile systemic hyalinosis: A case report and review of literature

Bhushan Madke1, Vidya Kharkar, Sunanda Mahajan

  • 1Department of Dermatology, Seth GS Medical College and KEM Hospital, Parel, Mumbai, India.

Indian Dermatology Online Journal
|November 7, 2012
PubMed

Insights

Infantile systemic hyalinosis, a rare genetic disorder, presented in a 3.5-month-old male with skin lesions and joint contractures. The case highlights the condition's rarity in Western India.

Area of Science:

  • Pediatric Genetics
  • Dermatopathology
  • Rare Genetic Disorders

Background:

  • Infantile systemic hyalinosis (ISH) is a rare, autosomal recessive disorder characterized by hyaline deposition in various tissues.
  • It typically presents in infancy with characteristic skin lesions, joint contractures, and systemic involvement.
  • Consanguinity is a known risk factor, increasing the likelihood of autosomal recessive conditions.

Observation:

  • A 3.5-month-old male infant, born to consanguineous parents, presented with multiple brownish, raised lesions over bony prominences.
  • The infant exhibited progressive difficulty in limb movement, leading to severe flexion joint contractures.
  • A significant family history included an elder sibling who died at 5 months of age due to recurrent pneumonia, suggesting a possible inherited condition.

Findings:

  • Skin biopsy revealed increased amorphous hyaline matrix deposition in the dermis, confirmed by Periodic Acid Schiff (PAS) staining.
  • The hyaline material was PAS-positive, indicating its carbohydrate-rich nature.
  • Scattered fibroblasts were observed within the hyaline matrix, consistent with pathological findings in ISH.

Implications:

  • This case underscores the importance of considering ISH in infants presenting with similar dermatological and musculoskeletal symptoms, especially in populations with a higher prevalence of consanguinity.
  • Early diagnosis and genetic counseling are crucial for affected families.
  • The report contributes to the limited literature on ISH, particularly its occurrence in Western India, aiding in understanding its geographical distribution and clinical spectrum.

Keywords:
Infantile systemic hyalinosiscontracturespapulonodular skin lesions

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