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01-03-2009 | Short Report

Infantile systemic hyalinosis presenting as intractable infantile diarrhea

Authors: Luluah Al-Mubarak, Abdulkarim Al-Makadma, Sultan Al-Khenaizan

Published in: European Journal of Pediatrics | Issue 3/2009

Abstract

Infantile systemic hyalinosis is an autosomal recessive disease characterized by severe progressive flexion contractures, multiple recurring subcutaneous tumours, and gingival hypertrophy. It is caused by mutations in the gene encoding capillary morphogenesis protein-2 (CMG2). Here we report a Saudi infant with infantile systemic hyalinosis who presented with intractable diarrhea, and we review the literature emphasizing recent developments in the molecular genetics of this disease.

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Title: Infantile systemic hyalinosis presenting as intractable infantile diarrhea
Authors: Luluah Al-Mubarak
Abdulkarim Al-Makadma
Sultan Al-Khenaizan
Publication date: 01-03-2009
Publisher: Springer-Verlag
Published in: European Journal of Pediatrics / Issue 3/2009
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-008-0760-8

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Infantile systemic hyalinosis presenting as intractable infantile diarrhea

Abstract

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Abstract

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