Abstract
Inherited systemic hyalinosis is a rare autosomal recessive disorder affecting the mutation in gene ANTXR2. Since this entity was first described in 1978, many authors tried to differentiate two distinct entities: severe form as infantile systemic hyalinosis and milder form as juvenile hyaline fibromatosis. As more cases beginning to appear, it was recognized that these two entities are two ends of the spectrum of the same disease process. Now, there is a general consensus of grouping these entities together under the term inherited systemic hyalinosis. In this genetic disorder, the role of the surgery is limited to improve the quality of life only. We report a case of inherited systemic hyalinosis who presented to us at the age of 3 years and had surgery at the age of 7 years and 8 years, with a follow-up of 2 years postsurgery.
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