Overview
Infantile systemic hyalinosis (ISH) is a rare, autosomal recessive disorder characterized by widespread hyaline deposition in connective tissues and organs, leading to severe multisystem manifestations including joint contractures, hyperpigmentation, gastrointestinal issues, and bone lesions 1.Diagnosis
Clinical Presentation: Recurrent diarrhea, failure to thrive, refractory infections, painful joint contractures, hyperpigmentation, subcutaneous nodules, gingival hypertrophy 1.
Genetic Testing: Identification of mutations in the anthrax toxin receptor 2 (ANTXRL2) gene, such as c.134T>C; p.L45P 1.
Imaging and Laboratory: May reveal osteolytic bone lesions, pericardial effusion, and thrombotic events; protein-losing enteropathy can be confirmed with specific biomarkers 1.Management
Supportive Care: Management of symptoms including nutritional support, anti-infective therapy for infections, and symptomatic relief for joint contractures 1.
Anticoagulation: Consideration for anticoagulation in cases of thrombosis, though specific dosing is not detailed 1.
Multidisciplinary Approach: Collaboration with pediatric specialists, gastroenterologists, and hematologists to address multisystem involvement 1.Special Populations
Pediatrics: ISH predominantly affects infants and young children, with severe morbidity and high mortality rates observed 1.Key Recommendations
Genetic Testing for ANTXRL2 Mutations: Essential for confirming diagnosis in suspected cases (Evidence: Moderate 1).
Aggressive Management of Infections: Early and thorough treatment of infections to prevent complications such as septic shock (Evidence: Moderate 1).
Monitor for Thrombotic Events: Regular monitoring and prompt intervention for thrombotic complications like right atrial thrombosis and pericardial effusion (Evidence: Weak 1).References
1 Mohamed S, Ahmed W, Al-Jurayyan N, Faqeih E, Al-Nemri A, Al-Ghamdi M. Infantile Systemic Hyalinosis Complicated with Right Atrial Thrombus and Pericardial Effusion in an Infant. Pediatrics and neonatology 2017. link