Cutaneous manifestations in patients with Wiskott-Aldrich syndrome submitted to haematopoietic stem cell transplantation

摘要

Introduction: Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by a mutation of the WAS protein gene. This protein actively participates in important cellular processes, and its presence is related to diverse clinical manifestations, including cutaneous alterations. The classical triad of WAS consists of recurrent infections, thrombocytopaenia with small platelets and atopic dermatitis (AD)-like lesions. Objective: To evaluate the frequencies of cutaneous manifestations in patients with WAS prior to haematopoietic stem cell transplantation (HSCT). Results: Twenty-four boys diagnosed with WAS and treated with HSCT between 1992 and 2007 were included. The characteristic triad of WAS occurred in 46% of patients. Before HSCT, the most frequent cutaneous manifestations included eczema similar to AD (71%), followed by petechiae and/or ecchymosis (58%) and cutaneous infections (17%). Conclusions: Cutaneous manifestations in patients with WAS are frequent, especially those similar to the eczema found in AD.