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Article

Systemic Hyalinosis With Heterozygous CMG2 Mutations: A Case Report and Review of Literature.

The American Journal of dermatopathology - 1 May 2016

Rahvar Maral, Teng Joyce, Kim Jinah

Abstract excerpt

Juvenile hyaline fibromatosis (JHF) is a rare autosomal recessive disorder characterized by hyalinizing fibrosis of the skin and internal organs. Clinical features include multiple papular skin lesions, gingival hyperplasia, joint contractures, and osteolytic bone lesions. The systemic variant of JHF, known as infantile systemic hyalinosis (ISH), has an early onset and poor prognosis. Histological examination of...

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PMID: 26885603
DOI: 10.1097/DAD.0000000000000467

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