INFANTILE SYSTEM HYLONOSIS CASE REPORT AND SURGICAL MANAGEMENT
Dr. Talal Bokhamsin*
Infantile systemic hyalinosis (ISH) is a rare, progressive and fatal autosomal recessive disease, characterized by diffuse hyaline deposits in the skin, gastrointestinal tract, muscle and endocrine glands. The clinical features are evident either at birth or within the first 6 months of life. This disease is usually fatal within 2 years of life. It is manifested by painful progressive joint contractures, thickened skin with hyperpigmentation over the bony prominences, susceptibility to bone fractures, infections and gingival hyperplasia. Here we report a case of a 5-year-old boy with a physical disability since birth, painful joints contractures, growth retardation, thickened skin with hyperpigmentation, and gingival hyperplasia. Histopathologic and molecular studies confirmed the diagnosis of ISH in this patient. We describe the surgical management for this patient and the treatment outcomes. Since no treatment is currently available for this condition, symptomatic management and pain control are the only ways to manage such cases.
Keywords: Infantile systemic hyalinosis (ISH), Progressive joint contractures, gingival hyperplasia.
[Full Text Article]