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Article

Infantile systemic hyalinosis in an Iranian family with a mutation in the CMG2/ANTXR2 gene.

Clinical and experimental dermatology - 1 Aug 2015

Vahidnezhad H, Ziaee V, Youssefian L, Li Q, Sotoudeh S, Uitto J

Abstract excerpt

Infantile systemic hyalinosis (ISH) is an extremely rare genodermatosis, characterized by thickened skin, joint contractures and subcutaneous nodules. ISH is caused by mutations in the CMG2 gene, which encodes a protein of unknown function. In this report, we describe a patient with ISH, who was a twin born to a consanguineous Iranian couple, and who demonstrated unusual skin findings in addition to the...

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Identifiers

PMID: 25754064
DOI: 10.1111/ced.12616

Genes

ANTXR2

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