Infantile systemic hyalinosis: Case report and review of the literature

Lisa E. Lindvall, Tanya Kormeili, Elaine Chen, Maria Celeste M Ramirez, Valerie Grum-Tokars, Marc J. Glucksman, John A. Martignetti, Michael V. Zaragoza, Senait W. Dyson*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

34 Scopus citations

Abstract

Infantile systemic hyalinosis (ISH) is a rare, progressive autosomal recessive disease, which is usually fatal by the age of 2 years. Clinical onset typically occurs within the first few weeks of life. The disease is characterized by joint contractures, osteopenia, failure to thrive, gingival hypertrophy, diarrhea, protein-losing enteropathy, and frequent infections. Dermatologic manifestations include thickened skin, hyperpigmentation, perianal nodules, and facial papules. Histopathology shows hyaline deposits in the dermis and visceral organs. We describe a patient with ISH confirmed by clinical and histopathologic findings, as well as DNA sequence analysis, which revealed a novel homozygous T118K mutation in the CMG2 gene.

Original languageEnglish (US)
Pages (from-to)303-307
Number of pages5
JournalJournal of the American Academy of Dermatology
Volume58
Issue number2
DOIs
StatePublished - Feb 1 2008

ASJC Scopus subject areas

  • Dermatology

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