Case Report
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Tırnağında ektodermal distrofi olan bir otozomal poliglandular sendrom tip 1 vakası

Year 2018, Volume: 1 Issue: 1, 22 - 24, 05.04.2018
https://doi.org/10.32322/jhsm.398740

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. 

References

  • 1. Harrison’ s Principle of Internal Medicine, 19th Edition.
  • 2. https://emedicine.medscape.com/article/124183-clinical#b5.
  • 3. Hipokalsemi ile başvuran otoimmün poliglanduler sendrom (OPS) tip 1 OlgusuA case of autoimmun polyglandular syndrome (APS) Type 1 applied to hypocalcemia Deniz GÖKALPa,Şenay ARIKANa,Mithat BAHÇECİa,Alpaslan K. TUZCUa,M. Ali KAPLANb aEndokrinoloji BD, bİç Hastalıkları AD, Dicle Üniversitesi Tıp Fakültesi, DİYARBAKIR
  • 4. https://rarediseases.org/rare-diseases/autoimmune-polyglandular-syndrome-type-1
  • 5. Anderson et al., 2002
  • 6. Liston et al., 2003; Anderson et al., 2005 ; Taniguchi et al., 2012 Lei et al., 2011; Malchow et al., 2013; Perry et al., 2014 ; Yang et al., 2015
  • 7. Harrison’ s Principle of Internal Medicine, 19th Edition
  • 8. https://rarediseases.org/rare-diseases/autoimmune-polyglandular-syndrome-type-1
  • 9. Harrison’ s Principle of Internal Medicine, 19th Edition
  • 10. The challenge for dermatologists of early APECED diagnosis,[Article in French] Puzenat E1, Bellaud G2, Saugier-Veber P3, Crémillieux C4, Mignot B4, Humbert P5, Aubin F6., --Ann Dermatol Venereol. 2014 Apr;141(4):290-4. doi: 10.1016/j.annder.2014.01.012. Epub 2014 Feb 18.
  • 11. A case of polyglandular autoimmune syndrome type I with unusual presentation.Qureshi AU1, Abbas R, Ahmad TM., J Coll Physicians Surg Pak. 2011 Mar;21(3):187-9. doi: 03.2011/JCPSP.187189.

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

Year 2018, Volume: 1 Issue: 1, 22 - 24, 05.04.2018
https://doi.org/10.32322/jhsm.398740

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.

References

  • 1. Harrison’ s Principle of Internal Medicine, 19th Edition.
  • 2. https://emedicine.medscape.com/article/124183-clinical#b5.
  • 3. Hipokalsemi ile başvuran otoimmün poliglanduler sendrom (OPS) tip 1 OlgusuA case of autoimmun polyglandular syndrome (APS) Type 1 applied to hypocalcemia Deniz GÖKALPa,Şenay ARIKANa,Mithat BAHÇECİa,Alpaslan K. TUZCUa,M. Ali KAPLANb aEndokrinoloji BD, bİç Hastalıkları AD, Dicle Üniversitesi Tıp Fakültesi, DİYARBAKIR
  • 4. https://rarediseases.org/rare-diseases/autoimmune-polyglandular-syndrome-type-1
  • 5. Anderson et al., 2002
  • 6. Liston et al., 2003; Anderson et al., 2005 ; Taniguchi et al., 2012 Lei et al., 2011; Malchow et al., 2013; Perry et al., 2014 ; Yang et al., 2015
  • 7. Harrison’ s Principle of Internal Medicine, 19th Edition
  • 8. https://rarediseases.org/rare-diseases/autoimmune-polyglandular-syndrome-type-1
  • 9. Harrison’ s Principle of Internal Medicine, 19th Edition
  • 10. The challenge for dermatologists of early APECED diagnosis,[Article in French] Puzenat E1, Bellaud G2, Saugier-Veber P3, Crémillieux C4, Mignot B4, Humbert P5, Aubin F6., --Ann Dermatol Venereol. 2014 Apr;141(4):290-4. doi: 10.1016/j.annder.2014.01.012. Epub 2014 Feb 18.
  • 11. A case of polyglandular autoimmune syndrome type I with unusual presentation.Qureshi AU1, Abbas R, Ahmad TM., J Coll Physicians Surg Pak. 2011 Mar;21(3):187-9. doi: 03.2011/JCPSP.187189.
There are 11 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Case Report
Authors

Merve Genç

Korcan Gültekin This is me

Ayşe Önal This is me

Aşkın Güngüneş This is me

Şenay Arıkan Durmaz

Publication Date April 5, 2018
Published in Issue Year 2018 Volume: 1 Issue: 1

Cite

AMA Genç M, Gültekin K, Önal A, Güngüneş A, Arıkan Durmaz Ş. A case of autoimmune polyglandular syndrome type 1 with ectodermal dystrophy in her nail. J Health Sci Med / JHSM. April 2018;1(1):22-24. doi:10.32322/jhsm.398740

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