INHERITED SYSTEMIC HYALINOSIS A CASE REPORT

Abstract

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.