Autoimmune polyendocrinopathy, candidiasis, and ectodermal dystrophy
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Revision as of 11:12, 4 August 2022 by Aidan (talk | contribs) (Created page with "== 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...")
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
