Article

3 Iconography
Access to the text (HTML) Access to the text (HTML)
PDF Access to the PDF text
Advertising


Access to the full text of this article requires a subscription.
  • If you are a subscriber, please sign in 'My Account' at the top right of the screen.

  • If you want to subscribe to this journal, see our rates



Journal of the American Academy of Dermatology
Volume 58, n° 2
pages 303-307 (février 2008)
Doi : 10.1016/j.jaad.2007.06.008
Case & Reviews

Infantile systemic hyalinosis: Case report and review of the literature
 

Lisa E. Lindvall, MS a, Tanya Kormeili, MD a, Elaine Chen, BA b, Maria Celeste M. Ramirez, PhD c, Valerie Grum-Tokars, PhD d, Marc J. Glucksman, PhD e, John A. Martignetti, MD, PhD c, Michael V. Zaragoza, MD, PhD b, Senait W. Dyson, MD a,
a Department of Dermatology, Division of Genetics, University of California, Irvine, California 
b Department of Pediatrics, Division of Genetics, University of California, Irvine, California 
c Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, New York 
d Center for Pharmaceutical Biotechnology, New York; and Department of Medicinal Chemistry and Pharmacognosy, University of Illinois, Chicago, Illinois 
e Midwest Proteome Center and Department of Biochemistry and Molecular Biology, Rosalind Franklin University of Medicine and Science, Chicago Medical School, Chicago, Illinois 

Reprint requests: Senait W. Dyson, MD, Department of Dermatology, University of California, Irvine, 101 The City Drive South, Bldg. 52, Rt. 98, Orange, CA 92868.
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.

The full text of this article is available in PDF format.

 Funding sources: None.
 Conflicts of interest: None declared.



© 2008  American Academy of Dermatology, Inc.@@#104156@@
EM-CONSULTE.COM is registrered at the CNIL, déclaration n° 1286925.
As per the Law relating to information storage and personal integrity, you have the right to oppose (art 26 of that law), access (art 34 of that law) and rectify (art 36 of that law) your personal data. You may thus request that your data, should it be inaccurate, incomplete, unclear, outdated, not be used or stored, be corrected, clarified, updated or deleted.
Personal information regarding our website's visitors, including their identity, is confidential.
The owners of this website hereby guarantee to respect the legal confidentiality conditions, applicable in France, and not to disclose this data to third parties.
Close
Article Outline
You can move this window by clicking on the headline