title: Wiskott-Aldrich syndrome presenting with early onset recurrent acute hemorrhagic edema and hyperostosis.
abstract: We report two unusual presenting manifestations of Wiskott-Aldrich syndrome (WAS), recurrent acute hemorrhagic edema of infancy (AHEI); a form of cutaneous vasculitis and hyperostosis of the tibia. Though cutaneous vasculitis is known to occur in WAS, presentation in early infancy and as AHEI is extremely uncommon. Hyperostosis is not a well-recognized association in WAS; only three patients with this association have been previously reported. In our patient these two unusual manifestations preceded the onset of recurrent infections. Recognition of this rare presentation led us to an early diagnosis of WAS, associated with p.Glu31Lys mutation in the WAS protein.
authors.affiliation: Division of Pediatric Allergy and Immunology, Department of Pediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
authors.forename: Shanmuganathan
authors.initials: S
authors.lastname: Chandrakasan
authors.forename: Surjit
authors.initials: S
authors.lastname: Singh
authors.forename: Sunil
authors.initials: S
authors.lastname: Dogra
authors.forename: Jean
authors.initials: J
authors.lastname: Delaunay
authors.forename: Alexis
authors.initials: A
authors.lastname: Proust
authors.forename: Ranjana W
authors.initials: RW
authors.lastname: Minz
mesh_terms: D004487:Edema / Q000209:etiology* / Q000473:pathology; D006470:Hemorrhage / Q000209:etiology* / Q000473:pathology; D006801:Humans; D015576:Hyperostosis / Q000209:etiology* / Q000473:pathology; D007231:Infant, Newborn; D008297:Male; D012008:Recurrence; D013977:Tibia / Q000473:pathology*; D018366:Vasculitis, Leukocytoclastic, Cutaneous / Q000209:etiology* / Q000473:pathology; D014923:Wiskott-Aldrich Syndrome / Q000150:complications* / Q000473:pathology