Neuropediatrics 2010; 41(1): 18-23
DOI: 10.1055/s-0030-1255059
Original Article

© Georg Thieme Verlag KG Stuttgart · New York

Chilblains as a Diagnostic Sign of Aicardi-Goutières Syndrome

G. M. H. Abdel-Salam1 , G. Y. El-Kamah1 , G. I. Rice2 , M. EL-Darouti3 , H. Gornall2 , M. Szynkiewicz2 , F. Aymard2 , M. S.  Zaki1 , A. K.  Abdel-Aleem4 , P. Lebon5 , Y. J.  Crow2
  • 1Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
  • 2Genetic Medicine, University of Manchester, Manchester Academic Health Science Centre, Central Manchester Foundation Trust University Hospitals, Manchester, UK
  • 3Department of Dermatology, Faculty of Medicine, Cairo University, Cairo,Egypt
  • 4Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt
  • 5Hospital Saint Vincent de Paul, UniversitéRené Descartes, Paris, France
Further Information

Publication History

received 12.02.2010

accepted 18.05.2010

Publication Date:
22 June 2010 (online)

Abstract

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.

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Correspondence

Assoc. Prof. Dr. Ghada M. H. Abdel-Salam

Clinical Genetics Department

Human Genetics and Genome

Research Division

National Research Centre

El-Tahrir street

Dokki

12622 Cairo

Phone: +20/2/5685 026

Fax: +20/2/5685 026

Email: ghada.abdelsalam@yahoo.com ghada.abdelsalam@gmail.com

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