Tırnağında ektodermal distrofi olan bir otozomal poliglandular sendrom tip 1 vakası

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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