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Exp Clin Endocrinol Diabetes 2003; 111(5): 288-293
DOI: 10.1055/s-2003-41287
Case Report

J. A. Barth Verlag in Georg Thieme Verlag Stuttgart · New York

Lupus-like Panniculitis in a Patient with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)

M. Füchtenbusch[*] 1 , A. Vogel[*] 2 , P. Achenbach 1 , M. Gummer 3 , A. G. Ziegler 1 , E. Albert 4 , E. Standl 1 , M. P. Manns 2
  • 1Department of Endocrinology, Diabetology and Gastroenterology, Academic Hospital München-Schwabing, Munich, Germany
  • 2Department of Gastroenterology, Hepatology and Endocrinology, Hanover Medical School, Hanover, Germany
  • 3Department of Dermatology, Academic Hospital München-Schwabing, Munich, Germany
  • 4National Reference Laboratory for Tissue Typing, University of Munich, Germany
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Publication History

Received: September 20, 2002 First decision: October 20, 2002

Accepted: January 10, 2003

Publication Date:
02 September 2003 (online)

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Abstract

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder, characterised by a loss of self-tolerance to endocrine tissues, chronic candidiasis and ectodermal disorders. APECED is associated with mutations of a single gene, designated autoimmune regulator (AIRE). We describe a 31-year-old APECED patient with non-traumatic, cutaneous ulcers on both forearms with features of a lupus-like panniculitis. On admission to the ICU in September 2001, the patient suffered from a ketoacidotic, hyperglycemic coma and adrenal crisis due to an Enterobacter-cloacae sepsis, originating from multiple, necrotising deep cutaneous ulcers. These ulcers spontaneously developed on both forearms, some of which were just emerging, full blown or healing with scars. Histological examination showed signs of a scarring panniculitis and vasculitis. Immunohistochemistry and direct immunofluorescence with characterisation of immunoglobulin and complement-factor binding pattern revealed features of a lupus-like panniculitis. Sequence analysis of all 14 exons of the AIRE gene revealed a R257 X mutation in exon 6 resulting in a nonsense mutation at codon 257 confirming the diagnosis of APECED. Oral treatment with 60 mg/day corticosteroids for two weeks led to complete resolution of all ulcers. In conclusion, mutations in the AIRE gene may provide the genetic background against which additional factors can initiate an autoimmune process. Here, autoimmune panniculitis appears to be an associated feature of the APECED syndrome. Our findings support the use of immunosuppressive therapy for autoimmune disease components of the APECED syndrome.

Key words

APECED - autoimmune - panniculitis - AIRE - HLA