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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.

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.

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