Question

A 5-year-old male child presents to the clinic with a history of recurrent infection. On examination he is found to have the rashes shown below. On routine blood investigation, a low platelet count is found. What will be the diagnosis?

• A. Wiskott-Aldrich syndrome
• B. Job's syndrome
• C. Chediak-Higashi syndrome
• D. None

Hint:

Recall the X-linked triad of eczema, thrombocytopenia and recurrent infection in a boy.

Answer 1

The Correct Option is A

Step 1: The triad in a male child is eczema (the rash shown), thrombocytopenia (low platelets) and recurrent infections. This classic triad in a boy points to Wiskott-Aldrich syndrome.
Step 2: It is an X-linked disorder from a mutation in the WAS gene (WASP protein) at Xp11.23, which is why it affects males. The platelets are characteristically small in size. There is progressive loss of T lymphocytes with poor antibody response to polysaccharide antigens, so cellular and humoral immunity both fail.
Step 3: Job's syndrome (hyper-IgE) gives recurrent cold abscesses and very high IgE but normal platelets. Chediak-Higashi causes partial albinism and giant granules in leukocytes, not eczema with thrombocytopenia. The full eczema + thrombocytopenia + infection triad fits only Wiskott-Aldrich.
Ref: Robbins and Cotran Pathologic Basis of Disease, 9th Edition, Page 242.