Infantile systemic hyalinosis presenting as intractable infantile diarrhea |
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| Authors: | Luluah Al-Mubarak Abdulkarim Al-Makadma Sultan Al-Khenaizan |
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| Affiliation: | (1) Department of Pediatrics, King Fahad Medical City, Riyadh, Kingdom of Saudi Arabia;(2) Division of Dermatology, Department of Medicine, King Fahad National Guard Hospital, P.O. Box 22490, Riyadh, 11426, Kingdom of Saudi Arabia;(3) King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City , Riyadh, Kingdom of Saudi Arabia |
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| 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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| Keywords: | Hyalinosis Enteropathy Diarrhea Arthritis Skin pigmentation |
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