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Arch Dis Child 98:304-307 doi:10.1136/archdischild-2011-300812
  • Original article

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

  1. Leide Parolin Marinoni2
  1. 1Division of Pediatric Dermatology, Federal University of Paraná, Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Paraná, Brazil
  2. 2Division of Pediatric Dermatology, Department of Pediatrics, Federal University of Paraná, Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Paraná, Brazil
  3. 3Department of Dermatology, Michael G. DeGroote School of Medicine, McMaster University, Hamilton, Ontario, Canada 
  4. 4Division of Bone Marrow Transplantation, Federal University of Paraná, Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Paraná, Brazil
  5. 5Department of Pediatrics, Federal University of Paraná, Hospital de Clínicas da Universidade Federal do Paraná, Curitiba, Paraná, Brazil
  1. Correspondence to Vania Oliveira de Carvalho, Division of Pediatric Dermatology, Department of Pediatrics, Federal University of Paraná, Hospital de Clínicas da UFPR, Rua General Carneiro 181, 14 Andar, Rua Richard Strauss 62, Vista Alegre, Curitiba, Paraná CEP 80.820-110, Brazil; rcarvalho50{at}hotmail.com, jgloyola{at}hotmail.com
  • Received 7 December 2011
  • Revised 22 October 2012
  • Accepted 21 December 2012
  • Published Online First 23 January 2013

Abstract

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.