Autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy
From IDWiki
Background
- Autosomal recessive genetic syndrome resulting from mutation of the AIRE gene
Clinical Manifestations
- Onset usually in the first 10 to 20 years of life
- Hypoparathyroidism is the most common endocrine finding
- Addison disease, and ovarian failure are the next most common endocrine disorders
- Can also have diabetes mellitus and hypothyroidism
- Alopecia is common, as well as tooth enamel hypoplasia, nail dystrophy, keratopathy
- Also malabsorption, vitiligo, pernicious anemia, and autoimmune hepatitis
- Mucocutaneous candidiasis usually appears after birth
