Wiskott‐Aldrich Syndrome Caused by a New Mutation Associated with Multifocal Dermal Juvenile Xanthogranulomas. Issue 5 (12th November 2012)

• Record Type: Journal Article
• Authors: Jesenak, Milos; Plamenova, Ivana; Plank, Lukas; Banovcin, Peter
• Is Part Of: Pediatric dermatology. Volume 30:Issue 5(2013)
• Page Start: e91
• Page End: e93
• Publication Date: 2012-11-12
• Subjects: Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.12040
• Languages: English
• ISSNs: 0736-8046

Abstract

<abstract abstract-type="main" id="pde12040-abs-0001"> <title>Abstract</title> <p>Wiskott‐Aldrich syndrome is a rare X‐linked primary immunodeficiency clinically characterized by the triad of microthrombocytopenia, immunodeficiency, and eczema. Juvenile xanthogranuloma is a well‐recognized benign disorder of infancy and early childhood from the group of non‐Langerhans cell histiocytoses, with a good prognosis and spontaneous involution. We report a boy with Wiskott‐Aldrich syndrome caused by a new, not previously described mutation associated with multifocal juvenile xanthogranuloma.</p> </abstract>