AssessmentsAutoimmune polyglandular syndrome type 1 (NORD)
USMLE® Step 1 style questions USMLE
A 20-year-old woman presents to her primary care physician’s office for evaluation of a rash under her breasts. She first noticed the rash two days ago while bathing. The patient reports recurrent rashes of similar appearance affecting her face and limbs since the age of two. She was recently treated for oral thrush at a local clinic. Past medical history is significant for hypothyroidism managed with levothyroxine. Family history is significant for a brother who experienced similar cutaneous symptoms and died of fulminant hepatitis at the age of six. She does not use tobacco, alcohol, or illicit drugs. Vitals are within normal limits. Physical examination demonstrates red-brown, beefy, homogenous patches under the breasts and massive erythematous-desquamating dermatosis involving the face, limbs and nails. Genital examination shows multiple labial fissures. Intraepidermal injection of Candida antigens yields no reactogenicity. Which of the following is the most likely diagnosis?
Content Reviewers:Rishi Desai, MD, MPH
Normally, your body should only react to things that are foreign or not-self.
In APS type 1, there’s a genetic mutation in AIRE that’s usually inherited in an autosomal recessive fashion.
This allows for the production of antibodies and lymphocytes that target normal tissues of the body. It is still unclear why, but certain glandular tissues, including the adrenal glands and parathyroid glands, are particularly targeted.
There are multiple characteristic signs and symptoms of APS type 1.
One of them is polyendocrine malfunction resulting in hypoparathyroidism, characterized by low calcium and elevated phosphorus in the blood that can cause muscle cramping and seizures, and primary adrenal insufficiency, also called Addison’s disease, which can reduce cortisol and aldosterone levels.