A child with autoimmune polyendocrinopathy candidiasis and ectodermal dysplasia treated with immunosuppression: a case report

Hdl Handle:
http://hdl.handle.net/10147/274557
Title:
A child with autoimmune polyendocrinopathy candidiasis and ectodermal dysplasia treated with immunosuppression: a case report
Authors:
O’Gorman, Clodagh S; Shulman, Rayzel; Lara-Corrales, Irene; Pope, Elena; Marcon, Margaret; Grasemann, Hartmut; Schneider, Rayfel; Upton, Julia; Sochett, Etienne B; Koltin, Dror; Cohen, Eyal
Citation:
Journal of Medical Case Reports. 2013 Feb 14;7(1):44
Issue Date:
14-Feb-2013
URI:
http://dx.doi.org/10.1186/1752-1947-7-44; http://hdl.handle.net/10147/274557
Abstract:
Abstract Introduction Common features of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia include candidiasis, hypoparathyroidism and hypoadrenalism. The initial manifestation of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia may be autoimmune hepatitis, keratoconjunctivitis, frequent fever with or without a rash, chronic diarrhea, or different combinations of these with or without oral candidiasis. Case presentation We discuss a profoundly affected 2.9-year-old Caucasian girl of Western European descent with a dramatic response to immunosuppression (initially azathioprine and oral steroids, and then subsequently mycophenolate mofetil monotherapy). At four years of follow-up, her response to mycophenolate mofetil is excellent. Conclusion The clinical features of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia may continue for years before some of the more common components appear. In such cases, it may be life-saving to diagnose autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia and commence therapy with immunosuppressive agents. The response of our patient to immunosuppression with mycophenolate mofetil has been dramatic. It is possible that other patients with this condition might also benefit from immunosuppression.
Item Type:
Journal Article

Full metadata record

DC FieldValue Language
dc.contributor.authorO’Gorman, Clodagh S-
dc.contributor.authorShulman, Rayzel-
dc.contributor.authorLara-Corrales, Irene-
dc.contributor.authorPope, Elena-
dc.contributor.authorMarcon, Margaret-
dc.contributor.authorGrasemann, Hartmut-
dc.contributor.authorSchneider, Rayfel-
dc.contributor.authorUpton, Julia-
dc.contributor.authorSochett, Etienne B-
dc.contributor.authorKoltin, Dror-
dc.contributor.authorCohen, Eyal-
dc.date.accessioned2013-03-21T12:35:21Z-
dc.date.available2013-03-21T12:35:21Z-
dc.date.issued2013-02-14-
dc.identifier.citationJournal of Medical Case Reports. 2013 Feb 14;7(1):44-
dc.identifier.urihttp://dx.doi.org/10.1186/1752-1947-7-44-
dc.identifier.urihttp://hdl.handle.net/10147/274557-
dc.description.abstractAbstract Introduction Common features of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia include candidiasis, hypoparathyroidism and hypoadrenalism. The initial manifestation of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia may be autoimmune hepatitis, keratoconjunctivitis, frequent fever with or without a rash, chronic diarrhea, or different combinations of these with or without oral candidiasis. Case presentation We discuss a profoundly affected 2.9-year-old Caucasian girl of Western European descent with a dramatic response to immunosuppression (initially azathioprine and oral steroids, and then subsequently mycophenolate mofetil monotherapy). At four years of follow-up, her response to mycophenolate mofetil is excellent. Conclusion The clinical features of autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia may continue for years before some of the more common components appear. In such cases, it may be life-saving to diagnose autoimmune polyendocrinopathy-candidiasis-ectodermal dysplasia and commence therapy with immunosuppressive agents. The response of our patient to immunosuppression with mycophenolate mofetil has been dramatic. It is possible that other patients with this condition might also benefit from immunosuppression.-
dc.titleA child with autoimmune polyendocrinopathy candidiasis and ectodermal dysplasia treated with immunosuppression: a case report-
dc.typeJournal Article-
dc.language.rfc3066en-
dc.rights.holderClodagh S O’Gorman et al.; licensee BioMed Central Ltd.-
dc.description.statusPeer Reviewed-
dc.date.updated2013-03-19T16:08:32Z-
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