Aicardi-Goutieres Syndrome: A Possible Explanation Of Angiokeratoma Of Mibelli

E. Cinotti,M. Bertello,C. Habougit,F. Rongioletti,F. Cambazard,J. C. Antoine,L. Tognetti,P. Rubegni,J. L. Perrot

Journal of The European Academy of Dermatology and Venereology（2021）

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Abstract

Aicardi-Goutières syndrome (AGS) is a rare autosomal recessive disorder first described by Jean Aicardi and Françoise Goutières in 1984 . Given the elevated serum and cerebrospinal fluid (CSF) levels of interferon-α (IFNα), it belongs to the group of type 1 interferonopathies . Cutaneous manifestations are the most frequent extra neurologic findings and include chilblain-like lesions (CLL), acrocyanosis, distal tapering of digits, and nail abnormalities .

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Key words

Aicardi Goutières syndrome,acral,angiokeratoma,angiokeratoma of Mibelli,chilblain-like lesions,cyanosis,interferon

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