Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome
| Autor: | A. K. Abdel-Aleem, Pierre Lebon, Ghada M H Abdel-Salam, Hannah Gornall, Gillian I. Rice, F. Aymard, G. Y. El-Kamah, Marcin Szynkiewicz, M. El-Darouti, Maha S. Zaki, Yanick J. Crow |
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| Rok vydání: | 2010 |
| Předmět: |
Male
Systemic disease medicine.medical_specialty Pathology Eye Diseases DNA Mutational Analysis Aicardi syndrome SAM Domain and HD Domain-Containing Protein 1 Consanguinity Basal Ganglia Diseases Seizures medicine Humans Lupus Erythematosus Systemic Fat necrosis Child Chilblains Monomeric GTP-Binding Proteins Skin business.industry Calcinosis Infant General Medicine medicine.disease Connective tissue disease Pediatrics Perinatology and Child Health Aicardi–Goutières syndrome Female Histopathology Neurology (clinical) Age of onset Tomography X-Ray Computed business |
| Zdroj: | Neuropediatrics. 41:18-23 |
| ISSN: | 1439-1899 0174-304X |
| Popis: | Aicardi-Goutières syndrome (AGS) is a genetically heterogeneous disorder showing variability in age of onset and clinical features. Chilblain lesions have been described in AGS patients and recent papers have discussed the clinical, molecular and cutaneous histopathological overlap with chilblain lupus. Here we report on 2 unrelated children with AGS and chilblain lesions, whose clinical histories and examination findings well illustrate the wide phenotypic variability that can be seen in this pleiotropic disorder. Although both patients show remarkable similarity in the histopathology of their associated skin lesions, with thrombi formation, fat necrosis and hyalinization of the subcutaneous tissue, we note that the histopathology reported in other AGS cases with chilblains does not necessarily demonstrate this same uniformity. Our findings highlight the significant role of the characteristic chilblain skin lesions in the diagnosis of AGS, and variability in the associated histopathology which may relate to the stage and severity of the disease. |
| Databáze: | OpenAIRE |
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