Dermatologic Manifestations of Wiskott-Aldrich Syndrome Clinical Presentation

Updated: Aug 13, 2019
  • Author: Akimichi Morita, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Presentation

History

Thrombocytopenia and platelet dysfunction are often present from birth in Wiskott-Aldrich syndrome.

Wiskott-Aldrich syndrome patients usually develop bleeding and bloody diarrhea during the first weeks or months of life. Hematuria, epistaxis, and cutaneous petechiae may appear.

The characteristic triad of thrombocytopenia, eczema, and recurrent infections generally becomes apparent during the first year of life.

Eczema usually appears during the first month and fulfills the Rajka and Hanifin diagnostic criteria for atopic dermatitis.

Recurrent bacterial infections begin in infancy as placentally transmitted maternal antibody levels diminish. Patients are susceptible to a wide variety of bacterial infections, including septicemia, pneumonia, meningitis, pansinusitis, conjunctivitis, furunculosis, otitis externa, and otitis media.

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Physical Examination

Eczema commonly develops in the scalp, on the face, in the flexures, and in the diaper area, although patients commonly have widespread involvement with progressive lichenification. The lesion is essentially indistinguishable from atopic dermatitis apart from the frequent presence of purpura and/or petechiae and excessive bleeding from excoriations. Serosanguineous crust may appear. (See images below.)

Eczematous lesions in Wiskott-Aldrich syndrome. Th Eczematous lesions in Wiskott-Aldrich syndrome. The lesion is essentially indistinguishable from that of atopic dermatitis except for the presence of purpura and petechiae.
A bloody crust can be seen on the red papules. A bloody crust can be seen on the red papules.

Immunoglobulin E (IgE)–mediated allergic diseases (eg, urticaria, food allergies, asthma) may appear.

Mucocutaneous petechiae may appear.

Spontaneous bleeding from the oral cavity and hematuria are common in Wiskott-Aldrich syndrome.

Secondary bacterial infection of eczematous lesions is common.

Hepatosplenomegaly is common in Wiskott-Aldrich syndrome.

Lymphadenopathy, transient arthritis, nephropathy, and nodular vasculitis are occasionally present in Wiskott-Aldrich syndrome.

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Complications

With advancing age, T-cell function is progressively impaired, and patients are increasingly susceptible to infections caused by herpes and other viruses and Pneumocystis carinii.

Autoimmune phenomena may develop. Arthritis, renal disease, dermatomyositis, and autoimmune hemolytic anemia have been reported.

Lymphoreticular malignancy develops in 18-20% of patients, particularly in those with autoimmune manifestations. Non-Hodgkin lymphoma is the most common malignancy. [11, 12, 13, 14]

Intracranial hemorrhage is a constant threat.

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