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

Journal Title: Journal of Health Sciences and Medicine - Year 2018, Vol 1, Issue 1

Abstract

Autoimmune polyglandular syndrome type 1 (APS-1), also called autoimmune polyendocrinopathy-candidiasisectodermal 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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  • EP ID EP484771
  • DOI 10.32322/jhsm.398740
  • Views 165
  • Downloads 0

How To Cite

(2018). A case of autoimmune polyglandular syndrome type 1 with ectodermal dystrophy in her nail*. Journal of Health Sciences and Medicine, 1(1), 22-24. https://europub.co.uk./articles/-A-484771