Síndrome poliglandular autoinmunitario tipo 1. Diferentes formas de inicio

Blanca, Ana Rodríguez Sánchez de la; Fernández, Lidia Loidi; Rodríguez, R. Ortiz; Martín, M.B. Roldán

doi:10.1016/j.medcli.2011.07.012

Cited by 1 publication

(2 citation statements)

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“…For this reason, the prevalence of cutaneous vasculitis in the context of APS 1 is unknown and it might to be higher than that reported so far. As for our patient, vasculitic skin rashes in patients with APS 1 have been previously reported to be associated with other signs and/or symptoms, such as therapy-resistant and/or recurrent fever [ 6 , 7 , 9 , 10 , 13 – 16 , 18 ], polyarthritis [ 15 ], arthralgia [ 3 , 6 , 12 ], hepato-splenomegaly [ 7 , 16 ] and photosensitivity [ 13 , 17 ], as well as with laboratory and/or histological abnormalities such as hypergammaglobulinemia [ 9 , 13 , 16 ], elevated erythrocyte sedimentation rate [ 9 , 13 ], positive rheumatoid factor [ 15 ], traces of cryoglobulinemia [ 2 ] and panniculitis [ 12 ].…”

Section: Discussionmentioning

confidence: 53%

“… 7 urticarial rash CMC, 7.0 Rodríguez Sánchez De La Blanca A et al 2012 [ 18 ] 1 6 photosensitive rash HPT, 9.0 n.a. O’ Gorman CS et al 2013 [ 17 ] 1 1 intermittent urticarial rash HPT + CMC, 1 lymphocytic vasculitis CMC: chronic mucocutaneous candidiasias; HPT: chronic idiopathic hypoparathyroidism; n.a. : not available.…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2014

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BackgroundAutoimmune 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 presentationWe 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.ConclusionClinical 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.

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