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.
|Journal||Acta Paediatrica, International Journal of Paediatrics|
|Publication status||Published - Dec 2012|
- Dermatological features
- Primary Immunodeficiency Diseases (PID)
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health