[The challenge for dermatologists of early APECED diagnosis].
BACKGROUND
Polyglandular auto-immune syndrome type 1 (PAS-1) or auto-immune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder linked to auto-immune regulator (AIRE) gene mutations. Herein, we report the case of a 3-year-old boy with APECED emphasizing the wide phenotypic variability and the extent of skin lesions.


METHODS
A 3-year-old boy with a history of auto-immune hepatitis was referred for a generalized pruriginous urticaria-like eruption present for one month. He was born to non-consanguineous parents. Cutaneous examination revealed twenty-nail dystrophy, which had been present since the age of 2 years. Both direct microscopy and culture of nail samples were negative for Candida albicans. Esophagogastroduodenoscopy revealed esophageal candidiasis. A diagnosis of APECED was suspected and subsequently confirmed by molecular analysis of the AIRE gene, which showed two mutations. No other auto-immune endocrinopathies were found.


CONCLUSIONS
Our case report illustrates the phenotypic variability of APECED with the absence of typical manifestations such as Addison's disease and hypoparathyroidism. APECED should thus be systematically suspected in young children presenting with cutaneous lesions associated with mucocutaneous candidiasis or auto-immune disease, even in the absence of known endocrinopathies.


CONCLUSIONS
Dermatologists should be aware of this association since early diagnosis of APECED is critical in preventing life-threatening endocrinological crises.
Service de dermatologie, CHU Jean Minjoz, 3, boulevard Alexandre-Fleming, 25030 Besançon cedex, France. Electronic address: epuzenat@chu-besancon.fr.
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E
Puzenat
Service de dermatologie, CHU Jean Minjoz, 3, boulevard Alexandre-Fleming, 25030 Besançon cedex, France.
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G
Bellaud
Laboratoire de génétique moléculaire, CHU, 1, rue de Germont, 76000 Rouen, France.
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P
Saugier-Veber
Service de pédiatrie, CHU de Besançon, 25030 Besançon cedex, France.
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C
Crémillieux
Service de pédiatrie, CHU de Besançon, 25030 Besançon cedex, France.
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B
Mignot
Service de dermatologie, CHU Jean Minjoz, 3, boulevard Alexandre-Fleming, 25030 Besançon cedex, France; Inserm U1098, SFR FED 4234 IBCT, université de Franche-Comté, 25030 Besançon cedex, France.
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P
Humbert
Service de dermatologie, CHU Jean Minjoz, 3, boulevard Alexandre-Fleming, 25030 Besançon cedex, France; EA3081, SFR FED 4234 IBCT, université de Franche-Comté, 25030 Besançon cedex, France.
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F
Aubin
D015415:Biomarkers / Q000097:blood; D002177:Candidiasis / Q000150:complications; D002675:Child, Preschool; D042241:Early Diagnosis; D005091:Exons / Q000235:genetics; D005838:Genotype; D005938:Glucocorticoids / Q000627:therapeutic use; D019693:Hepatitis, Autoimmune / Q000150:complications; D006801:Humans; D008297:Male; D009154:Mutation; D009260:Nail Diseases / Q000175:diagnosis; D009264:Nails, Malformed / Q000175:diagnosis; D010641:Phenotype; D016884:Polyendocrinopathies, Autoimmune / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics*; D012307:Risk Factors; D014157:Transcription Factors / Q000097:blood* / Q000235:genetics; D016896:Treatment Outcome; D000096927:AIRE Protein
D015415:Biomarkers; D005938:Glucocorticoids; D014157:Transcription Factors; D000096927:AIRE Protein
AIRE gene; APECED; Candidose cutanéo-muqueuse; Esophagitis; Gène AIRE; Hepatitis; Hépatite; Mucocutaneous candidiasis; Onychomycose; Onychomycosis; Polyendocrinopathie auto-immune de type 1; Polyglandular auto-immune syndrome type 1; Rash; Éruption cutanée; Œsophagite