Infantile systemic hyalinosis presenting as intractable infantile diarrhea
| Autor: | Luluah Al-Mubarak, Abdulkarim Al-Makadma, Sultan Al-Khenaizan |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Male
Hyalin medicine.medical_specialty Pathology Contracture Infantile systemic hyalinosis Arthritis Disease Skin Diseases Diagnosis Differential Molecular genetics medicine Humans Enteropathy Skin business.industry Infant medicine.disease Progressive flexion contractures Diarrhea Gingival Hypertrophy Diarrhea Infantile Pediatrics Perinatology and Child Health Bone Diseases medicine.symptom business |
| Zdroj: | European Journal of Pediatrics. 168:363-365 |
| ISSN: | 1432-1076 0340-6199 |
| DOI: | 10.1007/s00431-008-0760-8 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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