Résumé
Introduction
Le syndrome d’APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy) est une maladie rare, de transmission autosomique récessive, liée aux mutations du gène AIRE. Son diagnostic repose classiquement sur l’association de deux des trois critères majeurs suivants: candidose cutanéomuqueuse chronique, hypoparathyroïdie et insuffisance surrénale d’origine autoimmune. D’autres manifestations endocriniennes et autoimmunes peuvent compléter le tableau. En revanche, l’association de cette polyendocrinopathie à une lymphangiectasie intestinale a été rapportée trois fois, posant un problème d’ordre nosologique sur le caractère fortuit ou non de cette association.
Observation
Nous rapportons l’observation d’une patiente, âgée de 33 ans, chez qui le diagnostic du syndrome d’APECED était retenu devant l’association d’une candidose buccale et vulvaire chronique depuis l’enfance, une dysplasie des ongles, une hypoparathyroïdie. La lymphangiectasie intestinale a été découverte lors d’une fibroscopie œsogastroduodenale motivée par la constatation d’une hypoprotidémie et d’une lymphopénie.
Conclusion
La lymphangiectasie intestinale pourrait être une manifestation non endocrinienne du syndrome d’APECED.
Abstract
Introduction
APECED syndrome is a rare disease, with autosomal recessive transmission and associated with mutations of the AIRE gene. Its diagnosis is classically based on the combination of any two of the following three major criteria: chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune chronic adrenocortical insufficiency (Addison disease). In addition, several endocrine and auto-immune manifestations may occur. However, only three cases of APECED syndrome associated with intestinal lymphangiectasia have been reported, raising the question of a chance association.
Exegesis
We report the case of a 33-year old woman, in which the diagnosis of APECED syndrome was retained because of the association of chronic oral and vulvar candidiasis, nail dystrophy, hypoparathyroidism. The intestinal lymphangiectasia was diagnosed during an oesophagogastroduodenoscopy moved by hypoproteinemia and lymphocytopenia.
Conclusion
Intestinal lymphangiectasia may be a component of APECED syndrome.
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Jghaimi, F., Zahlane, M., Mansouri, F. et al. Le syndrome d’APECED et la lymphangiectasie intestinale: une association fortuite ?. J Afr Hepato Gastroenterol 3, 71–74 (2009). https://doi.org/10.1007/s12157-009-0085-x
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DOI: https://doi.org/10.1007/s12157-009-0085-x