Early-onset stroke, polyarteritis nodosa (PAN), and livedo racemosa - 20/07/16
Doi : 10.1016/j.jaad.2016.01.057
Dominique C. Pichard, MD a, Amanda K. Ombrello, MD b, Patrycja Hoffmann, MS, CRNP b, Deborah L. Stone, MD b, Edward W. Cowen, MD, MHSc a, ⁎ 
a Dermatology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland
b Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
∗Reprint requests: Edward W. Cowen, MD, MHSc, Dermatology Branch, National Cancer Institute, National Institutes of Health, 10 Center Dr, Bethesda, MD 20892.Dermatology BranchNational Cancer InstituteNational Institutes of Health10 Center DrBethesdaMD20892
Abstract |
Key teaching points |
• | DADA2 is an autosomal recessive syndrome characterized by recurrent fever, early-onset stroke, livedo racemosa, PAN, and hepatosplenomegaly. |
• | Preliminary experience suggests anti–TNF-α therapy may prevent further CVA, improve cutaneous PAN, and improve hepatobiliary function, but further study is needed. |
• | Early identification and confirmation of mutations in the CECR1 gene can potentially decrease morbidity from this disease by guiding selection of appropriate therapy early in the course of disease. |
Key words : deficiency of adenosine deaminase 2, genodermatosis, livedo, polyarteritis nodosa, stroke
Abbreviations used : ADA2, CECR1, CVA, DADA2, NIH, PAN, TNF
Plan
| Supported by the National Institutes of Health Intramural Research Programs including the Intramural Research Program from the National Human Genome Research Institute and from the Center for Cancer Research, National Cancer Institute. |
|
| Conflicts of interest: None declared. |
© 2016
Publié par Elsevier Masson SAS.
Vol 75 - N° 2
P. 449-453 - août 2016 Retour au numéro
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