A red baby should not be taken too lightly


F Faletra, M.D., Unit of Genetics, Institute for Maternal and Child Health IRCCS Burlo Garofolo, via dell’Istria 65/1, 34137 Trieste, Italy. Tel: +390403785275 | fax +390403785540 | Email: faletra@burlo.trieste.it


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.