Hypohidrotic ectodermal dysplasia and Familial Mediterranean Fever in a child with recurrent episodes of hyperthermia

Abstract

Ectodermal dysplasia (ED) is a clinically heterogeneous condition characterized by the abnormal development of two or more ectoderm-derived structures. Mutations in ED1 gene, (Xq12-13.1), are the most frequent cause. X-linked Hypohidrotic Ectodermal Dysplasia (XL-HED) is characterized by association of sparse hair, abnormal or missing teeth and variable inability to sweat that may cause recurrent episodes of hypertermia in the first years of age. Familial Mediterranean Fever (FMF) is an autoinflammatory autosomal recessive disorder characterized by recurrent attacks of fever and serosal inflammation caused by mutations in the Mediterranean fever gene (MEFV), on chromosome 16p13.3. An Italian child with clinical and molecular diagnosis of both conditions is described.