Journal of Health Sciences and Medicine

Yazarlar: Merve Genç, Korcan Gültekin, Ayşe Önal, Aşkın Güngüneş, Şenay Arıkan Durmaz

Konular:Sağlık Bilimleri ve Hizmetleri

DOI:10.32322/jhsm.398740

Anahtar Kelimeler:APS-1,Ectodermal dystrophy

Özet: Autoimmune polyglandular syndrome type 1 (APS-1), also called autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, has three major components including mucocutaneous candidiasis, hypoparatiroidism and Addison’s disease. It is an autosomal recessive disorder. Mutations in the AIRE gene found on chromosome 21 are the cause of this disease. A 21-year-old female patient with Addison's disease was admitted to our outpatient clinic for routine control. The patient was diagnosed with Addison's disease at the age of six when she applied for a complaint of fatigue and hyperpigmentation. She was diagnosed with primary hypoparathyroidism after 6 months.  Physical examination revealed that mucocutaneous candidiasis at her mouth and ectodermal dystrophy at her right hand second finger’s nail. The patient had no hair on the pubic or axillary region. Asplenism was detected in the abdominal ultrasound examination. In conclusion, patients with APS-1 can be presented with ectodermal dystrophy and it must be paid attention to ectodermal dystrophy during diagnostic evaluation.

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