Heterogeneity and atypical presentation in infantile systemic hyalinosis with severe labio-gingival enlargement: first Egyptian report.

Infantile systemic hyalinosis (ISH) (MIM 236490) is a rare, progressive, fatal autosomal recessive condition characterized by widespread deposition of hyaline material in many tissues. Our proband was a 4-year-old male with growth retardation, severe labio-gingival enlargement, generalized stiff skin, joint contractures, and intractable diarrhea. We discovered a history of a brother and sister who suffered a more severe disease course. A final diagnosis of systemic hyalinosis was made; we report this case and discuss the clinical and orodental heterogeneity among these siblings in the first report of an Egyptian family with ISH. We present a very rare entity, infantile systemic hyalinosis, a cause of joint contracture, protein-losing enteropathy, and growth retardation in infancy with a review of the relevant literature.