Tırnağında ektodermal distrofi olan bir otozomal poliglandular sendrom tip 1 vakası

Year 2018, , 22 - 24, 05.04.2018

Merve Genç Korcan Gültekin Ayşe Önal Aşkın Güngüneş Şenay Arıkan Durmaz

https://doi.org/10.32322/jhsm.398740

Cited By: 1

Abstract

Otoimmün
poliendokrinopati-candidiazis-ektodermal distrofi olarak da adlandırılan otoimmün
poliglandüler sendrom tip 1(OPS-1); mukokütanöz kandidiyazis, hipoparatiroidi
ve Addison hastalığı olmak üzere üç tane major komponente sahiptir ve 21. kromozomda
localize olan AIRE genindeki mutasyonlar bu hastalığın nedenidir. Yirmi bir
yaşında Addison hastalığı tanısı olan kadın hasta polikliniğimize rutin kontrol
için başvurdu. Hastaya 6 yaşında iken yorgunluk ve hiperpigmentasyon şikayetiyle
başvurduğu hastanede Addison hastalığı tanısı konulmuş. Altı ay sonra primer
hipoparatiroidi tanısı almış. Fizik muayenede hastanın ağzında mukokütanöz
kandidiazis ve sağ el ikinci parmak tırnağında ektodermal distrofi tespit
edildi. Hastanın pubik ve aksiller bölgede kıllanması yoktu. Abdominal ultrason
incelemesinde asplenizm saptandı. Sonuçta, OPS-1’ de ektodermal distrofi
görülebilir. Bu nedenle ektodermal distrofili hastalarda OPS-1 açısından
dikkatli olmak gerekir. 

Keywords

OPS-1, ektodermal distrofi

A case of autoimmune polyglandular syndrome type 1 with ectodermal dystrophy in her nail

Abstract

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.

Keywords

APS-1, ectodermal dystrophy

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