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Related Experiment Videos

Infantile systemic hyalinosis.

Imad Al-Najjadah1, Rameshwar L Bang, Ibrahim E Ghoneim

  • 1Al Babtain Center for Plastic Surgery and Burns, Faculty of Medicine, Kuwait University, Kuwait. plasticsurgery1@hotmail.com

The Journal of Craniofacial Surgery
|September 23, 2003
PubMed
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Infantile systemic hyalinosis (ISH) is a rare genetic disorder causing painful joint contractures and skin changes. This report details two surviving patients, highlighting management strategies for improved quality of life.

Area of Science:

  • Genetics
  • Pediatrics
  • Dermatology

Background:

  • Infantile systemic hyalinosis (ISH) is a rare, autosomal recessive genetic disorder of unknown etiology.
  • Clinical manifestations typically appear within the first six months of life, presenting with progressive joint contractures, skin thickening, and distinctive facial papules.
  • The disease is characterized by a high mortality rate within the first two years, primarily due to infections and diarrhea.

Purpose of the Study:

  • To describe the clinical course and management of two long-term survivors of Infantile Systemic Hyalinosis.
  • To evaluate the impact of surgical interventions on patient comfort and rehabilitation.

Main Methods:

  • Case report of two patients diagnosed with Infantile Systemic Hyalinosis.
  • Clinical assessment including physical examination and review of medical history.

Related Experiment Videos

  • Surgical intervention involving debulking of gingival hypertrophy and excision of symptomatic skin masses.

    • Main Results:

    • Two patients with ISH, aged 14 and 10 years, survived beyond the typical mortality age.
    • Both patients presented with characteristic clinical features of ISH.
    • Surgical debulking of gingival hypertrophy and excision of skin masses were performed to improve comfort and facilitate nursing care.

    Conclusions:

    • Infantile Systemic Hyalinosis, while typically fatal in early childhood, can present with long-term survivors.
    • Symptomatic management, including surgical debulking of hypertrophic tissues, can improve the quality of life and aid in the rehabilitation of affected individuals.
    • Further research is needed to understand the long-term prognosis and potential therapeutic strategies for ISH.