TY  - JOUR
T1  - A case of autoimmune polyglandular syndrome type 1 with ectodermal dystrophy in her nail
TT  - Tırnağında ektodermal distrofi olan bir otozomal poliglandular sendrom tip 1 vakası
AU  - Genç, Merve
AU  - Gültekin, Korcan
AU  - Önal, Ayşe
AU  - Güngüneş, Aşkın
AU  - Arıkan Durmaz, Şenay
PY  - 2018
DA  - April
DO  - 10.32322/jhsm.398740
JF  - Journal of Health Sciences and Medicine
JO  - J Health Sci Med /JHSM /jhsm
PB  - MediHealth Academy Yayıncılık
WT  - DergiPark
SN  - 2636-8579
SP  - 22
EP  - 24
VL  - 1
IS  - 1
LA  - en
AB  - Autoimmunepolyglandular syndrome type 1 (APS-1), also called autoimmune polyendocrinopathy-candidiasis-ectodermaldystrophy, 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 ouroutpatient clinic for routine control. The patient was diagnosedwith Addison's disease at the age of six when she applied for a complaint offatigue and hyperpigmentation. She was diagnosed with primaryhypoparathyroidism after 6 months. Physical examination revealed that mucocutaneous candidiasis at hermouth and ectodermaldystrophy at her right hand secondfinger’s nail. The patient had no hair on the pubic oraxillary region. Asplenism was detected in the abdominalultrasound examination. Inconclusion, patients with APS-1 can be presented with ectodermal dystrophy and it must be paidattention to ectodermal dystrophy during diagnostic evaluation.
KW  - APS-1
KW  - ectodermal dystrophy
N2  - Otoimmünpoliendokrinopati-candidiazis-ektodermal distrofi olarak da adlandırılan otoimmünpoliglandüler sendrom tip 1(OPS-1); mukokütanöz kandidiyazis, hipoparatiroidive Addison hastalığı olmak üzere üç tane major komponente sahiptir ve 21. kromozomdalocalize olan AIRE genindeki mutasyonlar bu hastalığın nedenidir. Yirmi biryaşında Addison hastalığı tanısı olan kadın hasta polikliniğimize rutin kontroliçin başvurdu. Hastaya 6 yaşında iken yorgunluk ve hiperpigmentasyon şikayetiylebaşvurduğu hastanede Addison hastalığı tanısı konulmuş. Altı ay sonra primerhipoparatiroidi tanısı almış. Fizik muayenede hastanın ağzında mukokütanözkandidiazis ve sağ el ikinci parmak tırnağında ektodermal distrofi tespitedildi. Hastanın pubik ve aksiller bölgede kıllanması yoktu. Abdominal ultrasonincelemesinde asplenizm saptandı. Sonuçta, OPS-1’ de ektodermal distrofigörülebilir. Bu nedenle ektodermal distrofili hastalarda OPS-1 açısındandikkatli olmak gerekir.
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UR  - https://doi.org/10.32322/jhsm.398740
L1  - http://dergipark.org.tr/tr/download/article-file/567357
ER  -