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.
Highlights
Ectodermal dysplasia (ED) is a clinically heterogeneous condition characterized by the abnormal development of two or more ectoderm-derived structures
Authors’ details 1Ospedale Luigi Sacco & Università degli Studi di Milano, Pediatrics, Milano, Italy
Summary
L Guazzarotti[1], M Carrabba2*, S Beretta[1], M Zarantonello[3], I Sani[4], GV Zuccotti[1], G Fabio[2,3]. From 8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases Dresden, Germany. From 8th International Congress of Familial Mediterranean Fever and Systemic Autoinflammatory Diseases Dresden, Germany. 30 September - 3 October 2015
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Disclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.