Author: Cinotti, E; Bertello, M; Habougit, C; Rongioletti, F; Cambazard, F; Antoine, J C; Tognetti, L; Rubegni, P; Perrot, J L P
Title: Aicardi Goutières syndrome: a possible explanation of Angiokeratoma of Mibelli. Cord-id: fuiyjq1x Document date: 2021_6_2
ID: fuiyjq1x
Snippet: Aicardi-Goutières syndrome (AGS) is a rare autosomal recessive disorder first described by Jean Aicardi and Françoise Goutières in 19841 . Given the elevated serum and cerebrospinal fluid (CSF) levels of interferon-α (IFNα), it belongs to the group of type 1 interferonopathies2 . Cutaneous manifestations are the most frequent extra neurologic findings and include chilblain-like lesions (CLL), acrocyanosis, distal tapering of digits, and nail abnormalities3-5 .
Document: Aicardi-Goutières syndrome (AGS) is a rare autosomal recessive disorder first described by Jean Aicardi and Françoise Goutières in 19841 . Given the elevated serum and cerebrospinal fluid (CSF) levels of interferon-α (IFNα), it belongs to the group of type 1 interferonopathies2 . Cutaneous manifestations are the most frequent extra neurologic findings and include chilblain-like lesions (CLL), acrocyanosis, distal tapering of digits, and nail abnormalities3-5 .
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