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Infantile systemic hyalinosis: a clinicopathological study
Germán Rodríguez Criado1, Antonio González-Meneses, Manuela Cañadas
1Dysmorphology Unit, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain. german@cica.es
American Journal of Medical Genetics. Part A
|August 25, 2004
Summary
Infantile systemic hyalinosis (ISH) is a rare genetic disorder causing painful symptoms and skin abnormalities. This study details two cases, highlighting the characteristic extracellular matrix accumulation and early mortality in ISH.
Area of Science:
- Genetics
- Pathology
- Pediatrics
Background:
- Infantile systemic hyalinosis (ISH) is an autosomal recessive connective tissue disorder.
- Clinical manifestations typically emerge at birth or shortly after, leading to significant morbidity.
Observation:
- Two unrelated patients with ISH were studied, focusing on clinical and pathological aspects.
- Symptoms included pain, joint swelling, dermal anomalies, failure to thrive, and recurrent infections.
- Skin showed diminished elasticity with characteristic pearly papules.
Findings:
- Retrospective diagnosis in one patient after death.
- Ultrastructural examination revealed extracellular matrix accumulation of fibrillogranular material.
- Presence of long-spacing collagen (90 nm) was noted in both patients.
Implications:
- ISH is associated with a poor prognosis, with affected children often succumbing by age 2-3.
- Understanding the ultrastructural pathology aids in diagnosing this rare condition.
- Further research into the genetic basis and potential treatments for ISH is warranted.