Infantile systemic hyalinosis: Case report and review of the literature - 24/04/13
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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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Conflicts of interest: None declared. |
Vol 58 - N° 2
P. 303-307 - février 2008 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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