Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature

BMC Pediatrics

Mariacarolina Salerno²  Claudio Pignata¹  Andrea Esposito²  Manuela Cerbone²  Emilia Cirillo¹  Donatella Capalbo²  Nicola Improda² 

[1] Unit of Pediatric Immunology, Department of Traslational Medical Sciences, “Federico II” University of Naples, Naples, Italy;Unit of Pediatric Endocrinology, Department of Traslational Medical Sciences, “Federico II” University of Naples, Naples, Italy

关键词: Autoimmunity;    Cutaneous vasculitis;    AIRE;    APS 1;   

Others  :  1118897
DOI  :  10.1186/1471-2431-14-272

 received in 2013-11-07, accepted in 2014-09-04,  发布年份 2014

【 摘 要 】

Background

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.

Case presentation

We report on a girl affected by APS 1 who presented with cutaneous vasculitis when she was seven-months old, some years before the onset of the common components of the disease.

Conclusion

Clinical picture of APS 1 may be characterized by isolated rare or atypical autoimmune or immune-mediated manifestations, even years before the onset of the classic components of the disease. Among these uncommon features, skin rashes of variable form and duration may occur, most of them being associated with histopathological features of vasculitis. Our case suggests that cutaneous vasculitis may represent a first sign of APS 1. The clinical significance of cutaneous vasculitis in the context of APS 1 is still debated. It may represent a rare, unusual, early component of the disease or a clinical manifestation secondarily related to the typical APS 1 components (i.e. autoimmune thyroid disease), which are frequently associated with rheumatologic-like signs and symptoms. Alternatively, it may be the expression of an independent disease co-occuring with APS 1. In conclusion, our case suggests that children presenting with unexplained vasculitic skin rash should be followed-up in order to early identify APS 1.

【 授权许可】

   
2014 Improda et al.; licensee BioMed Central Ltd.

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