Dermatologic Manifestations of Wiskott-Aldrich Syndrome
- Author: Akimichi Morita, MD, PhD; Chief Editor: Dirk M Elston, MD more...
Background
Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder originally described as a clinical triad of thrombocytopenia, eczema (atopiclike dermatitis), and recurrent pyogenic infections. Only 27% of patients have the classic triad, 20% of patients have hematologic manifestations alone, and 5% have infectious features before diagnosis. Recurrent infections result from immunodeficiency of both humoral immune responses and T-cell–mediated immune responses. The responsible gene (WASP) was identified in 1994.[1]
Other eMedicine articles on Wiskott-Aldrich syndrome include Wiskott-Aldrich Syndrome (Allergy and Immunology) and Wiskott-Aldrich Syndrome (Pediatrics).
Pathophysiology
Wiskott-Aldrich syndrome's hemorrhagic condition is due to both quantitative platelet defects and qualitative platelet defects. Thrombocytopenia is persistent. Platelets are small and fail to aggregate. Recurrent pyogenic infections are secondary to immunodeficiency of both humoral immune responses and T-cell–mediated immune responses. Eczema appears to be related to the abnormal function of the T cells.
Epidemiology
Frequency
United States
The prevalence of Wiskott-Aldrich syndrome is approximately 4 cases per 1 million births.[2]
Mortality/Morbidity
Death in childhood is common. Death usually occurs during the first decade, although survival to 18 years has been recorded.
Race
Most Wiskott-Aldrich syndrome patients are white. Blacks and Asians are rarely affected.
Sex
Most Wiskott-Aldrich syndrome patients are male. One case was reported in a girl.[3]
Age
Thrombocytopenia and platelet dysfunction can be found from birth, with dermatitis following in a few months.
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