INHERITED SYSTEMIC HYALINOSIS A CASE REPORT

Inherited Systemic Hyalinosis , a rare autosomal recessive disorder is characterized by hyaline deposits in the papillary dermis and other body tissues like joints, bones, and internal organs. Severe form is infantile systemic hyalinosis which die in early childhood. Milder form is juvenile hyaline fibromatosis which survive into adulthood. The prevalence of infantile systemic hyalinosis is unknown. Fewer than 20 people with this disorder have been reported worldwide so far. A 5 month old male child born of third degree consanguinous marriage presented with complaints of paucity of movement of all limbs since birth. Child had joint contractures at both elbow and knee joints and hyperpigmented thickening over the bony prominence. The child was diagnosed as a case of infantile systemic hyalinosis, a severe form of inherited systemic hyalinosis based on clinical features,hyaline material accumulation in skin biopsy and radiological finding.