Title |
Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature
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Published in |
BMC Pediatrics, November 2014
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DOI | 10.1186/1471-2431-14-272 |
Pubmed ID | |
Authors |
Nicola Improda, Donatella Capalbo, Emilia Cirillo, Manuela Cerbone, Andrea Esposito, Claudio Pignata, Mariacarolina Salerno |
Abstract |
Autoimmune polyendocrine syndrome type 1, also known as autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy, is a rare autosomal recessive disease due to pathogenic variants in the AIRE gene. Classic features of the syndrome are mucocutaneous candidiasis, chronic idiopathic hypoparathyroidism and Addison disease. However, other endocrine and non-endocrine components, may occur with a different prevalence. In addition to ectodermal features, which are quite common features of the disease, APS 1 patients may experience other types of skin alterations, such as vasculitic skin rash. An early diagnosis of APS 1 can be very challenging, due to the high clinical heterogeneity, and a considerable delay may occur between the appearance of symptoms and the diagnosis. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 14 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Student > Bachelor | 4 | 29% |
Student > Postgraduate | 2 | 14% |
Other | 1 | 7% |
Student > Doctoral Student | 1 | 7% |
Professor | 1 | 7% |
Other | 3 | 21% |
Unknown | 2 | 14% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 8 | 57% |
Agricultural and Biological Sciences | 2 | 14% |
Immunology and Microbiology | 1 | 7% |
Unspecified | 1 | 7% |
Unknown | 2 | 14% |