Aim: To identify clinical and laboratory features that can drive the differential diagnosis of a primary immunodeficiency diseases in patients with ectodermal defects.
Methods: Analysis of selected teaching cases.
Results: We identified four exemplary cases that allowed to point out specific clues.
Conclusions: A careful evaluation of immune and ectodermal signs is the key to the diagnosis. Therefore, a multidisciplinary approach can lead to diagnosis and to an appropriate treatment in most of the cases.
© 2012 The Author(s)/Acta Paediatrica © 2012 Foundation Acta Paediatrica.