Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3209865 | Journal of the American Academy of Dermatology | 2008 | 5 Pages |
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.
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Authors
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,