Dermatologic Manifestations of Wiskott-Aldrich Syndrome

Updated: Jan 03, 2017
  • Author: Akimichi Morita, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Overview

Background

Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder originally described as a clinical triad of thrombocytopenia, [1] 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, [2, 3] and, since then, about 300 mutations have been reported. [4]

Other Medscape Reference articles on Wiskott-Aldrich syndrome include Wiskott-Aldrich Syndrome and Pediatric Wiskott-Aldrich Syndrome.

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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.

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Epidemiology

Frequency

The prevalence of Wiskott-Aldrich syndrome is approximately 4 cases per 1 million births. [5]

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. [6]

Age

Thrombocytopenia and platelet dysfunction can be found from birth, with dermatitis following in a few months.

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Prognosis

Death usually occurs during infancy. Death usually occurs during the first decade, although survival to 18 years has been recorded. The cause of death in Wiskott-Aldrich syndrome is infection in 55-60% of patients, bleeding in 24-27% of patients, and lymphoreticular malignancy in about 5-10% of patients. Ten percent of Wiskott-Aldrich syndrome patients die from lymphoreticular malignancy, usually as adolescents or young adults.

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