Heterogeneity and atypical presentation in infantile systemic hyalinosis with severe labio-gingival El-Kamah GY et al. - Infantile systemic hyalinosis (ISH) (MIM 236490) is a rare, progressive, fatal autosomal recessive condition characterized by widespread deposition of hyaline material in many tissues. The authors proband was a 4-year-old male with growth retardation, severe labio-gingival enlargement, generalized stiff skin, joint contractures, and intractable diarrhea. [more...]
