In Anhidrotic Ectodermal Dysplasia, Precise Genetic Diagnosis Is Critical

Patients with anhidrotic (hypohidrotic) ectodermal dysplasia (AED) are typically male and have manifestations of dental abnormalities (e.g., peg-shaped central incisors), absent or decreased sweating, sparse hair, hypoplastic alae nasae and maxillae, and eczematous dermatitis. Most AED patients have a mutation in the X-linked ED1 gene, which codes for ectodysplasin A, a molecular relative of tumor necrosis factor α. Some patients, however, have autosomal mutations in the ectodysplasin A–receptor gene (EDAR). In a large family, the X-linked inheritance is often clear, and carrier females may have mild clinical manifestations. Because the clinical manifestations of X-linked and autosomal variants are similar, patients from small families and …