Juvenile hyaline fibromatosis and infantile systemic hyalinosis overlap associated with a novel mutation in capillary morphogenesis protein-2 gene

Richard J. Antaya, Mariana M. Cajaiba, Joseph Madri, Maria A. Lopez, Maria Celeste M Ramirez, John A. Martignetti, Miguel Reyes-Múgica*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

22 Scopus citations

Abstract

Juvenile hyaline fibromatosis (JHF) is a rare condition of childhood characterized by deposition of an amorphous substance of unclear nature in the dermis and subcutaneous tissues. The clinical picture includes painful skin lesions, leading to impairment of movements and severe disabilities. The allelic disease, infantile systemic hyalinosis (ISH), clinically overlaps with JHF but shows a worse picture with visceral involvement. Recently, germline mutations in the capillary morphogenesis gene-2 (CMG2) were found to be responsible for both diseases. Here, we present a case with classical clinicopathologic findings of JHF and features of ISH, and we describe a novel mutation in CMG2.

Original languageEnglish (US)
Pages (from-to)99-103
Number of pages5
JournalAmerican Journal of Dermatopathology
Volume29
Issue number1
DOIs
StatePublished - Feb 1 2007

Keywords

  • CMG2
  • Infantile systemic hyalinosis
  • Juvenile hyaline fibromatosis
  • Mutation

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Dermatology

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