Infantile systemic hyalinosis: Case report and review of the literature
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 hypert...
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Published in | Journal of the American Academy of Dermatology Vol. 58; no. 2; pp. 303 - 307 |
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Main Authors | , , , , , , , , |
Format | Journal Article |
Language | English |
Published |
New York, NY
Mosby, Inc
01.02.2008
Elsevier |
Subjects | |
Online Access | Get full text |
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Summary: | 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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Bibliography: | ObjectType-Case Study-3 SourceType-Scholarly Journals-1 content type line 23 ObjectType-Review-1 ObjectType-Feature-5 ObjectType-Report-2 ObjectType-Article-4 |
ISSN: | 0190-9622 1097-6787 |
DOI: | 10.1016/j.jaad.2007.06.008 |