RT Journal Article
SR Electronic
T1 Cutaneous manifestations in patients with Wiskott–Aldrich syndrome submitted to haematopoietic stem cell transplantation
JF Archives of Disease in Childhood
JO Arch Dis Child
FD BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health
SP 304
OP 307
DO 10.1136/archdischild-2011-300812
VO 98
IS 4
A1 Loyola Presa, Juliana Gomes
A1 de Carvalho, Vania Oliveira
A1 Morrisey, Laura Rogers
A1 Bonfim, Carmem Maria
A1 Abagge, Kerstin Taniguchi
A1 Vasselai, Angélica
A1 Marinoni, Leide Parolin
YR 2013
UL http://adc.bmj.com/content/98/4/304.abstract
AB 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.