Chilblains as a diagnostic sign of aicardi-goutiéres syndrome

G. M H Abdel-Salam, G. Y. El-Kamah, G. I. Rice, M. El-Darouti, H. Gornall, M. Szynkiewicz, F. Aymard, M. S. Zaki, Alice Kamal Abd El Aleem, P. Lebon, Y. J. Crow

Research output: Contribution to journalArticle

20 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)18-23
Number of pages6
Issue number1
Publication statusPublished - 2010
Externally publishedYes



  • Aicardi-Goutières syndrome
  • chilblains
  • glaucoma
  • histopathology
  • interferon alpha
  • intracranial calcification
  • systemic lupus erythematosus

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology
  • Medicine(all)

Cite this

Abdel-Salam, G. M. H., El-Kamah, G. Y., Rice, G. I., El-Darouti, M., Gornall, H., Szynkiewicz, M., Aymard, F., Zaki, M. S., Kamal Abd El Aleem, A., Lebon, P., & Crow, Y. J. (2010). Chilblains as a diagnostic sign of aicardi-goutiéres syndrome. Neuropediatrics, 41(1), 18-23.