Syndrome Apeced ou polyendocrinopathie auto-immune de type 1

Proust-Lemoine, Emmanuelle; Wémeau, Jean-Louis

doi:10.1016/j.lpm.2007.11.015

Cited by 11 publications

(3 citation statements)

References 42 publications

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“…Le syndrome APECED est une maladie rare, de transmission autosomique récessive, lié à une mutation du gène AIRE, localisé en 21q22.3 [2]. Ce gène code pour la protéine AIRE 1, facteur de transcription [8], qui joue un rôle sur la tolérance centrale thymique du soi et en périphérie sur la régulation de l'activation des lymphocytes T par des cellules dendritiques [2,9].…”

Section: Discussionunclassified

“…Ce gène code pour la protéine AIRE 1, facteur de transcription [8], qui joue un rôle sur la tolérance centrale thymique du soi et en périphérie sur la régulation de l'activation des lymphocytes T par des cellules dendritiques [2,9]. Le diagnostic du syndrome APECED a été confirmé dans le cas décrit par la mutation du gène AIRE qui a été recherché devant les signes cliniques évocateurs du syndrome, notamment une candidose chronique cutanéo-muqueuse.…”

Section: Discussionunclassified

“…Il se caractérise par la triade de Whitaker [1] : candidose cutanéomuqueuse chronique, hypoparathyroïdie et insuffisance surrénalienne auto-immune [2,3]. La préva-lence est variable selon la zone géographique (1/25 000 à 1/80 000).…”

Section: Introductionunclassified

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Syndrome APECED et lichen plan atrophique : un cas

Regnault

Catros

Sibaud

et al. 2016

Med Buccale Chir Buccale

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-Introduction:Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal recessive disease defined by two of the following conditions: hypoparathyroidism, adrenocortical failure and chronic mucocutaneous candidiasis. Other autoimmune disorders may be associated with it. Chronic candidiasis is usually the first and most common aspect of the syndrome. Case report: We report the case of a 19-year-old man whose clinical manifestations of APECED comprised adrenocortical failure, keratopathy and alopecia. Chronic candidiasis was previously clinically suspected, but never demonstrated with mucocutaneous scraping and cultures. APECED status was confirmed after identification of a mutation in the AIRE gene. In the oral mucosa, atrophic and erosive lesions were observed, which were compatible with oral lichen planus. This was histologically confirmed. Discussion: The finding of oral lichen planus in an APECED patient is unusual, and it poses the question of the occurrence of misdiagnosis of candidiasis in some cases of APECED, which could be due to the lack of histological examinations of these lesions. Conclusion: Dentists should be aware of this dystrophy, as oral manifestations are not specific but can be related to more common oral diseases such as oral lichen planus or candidiasis.

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