Premium
Wiskott–Aldrich syndrome presenting with early onset recurrent acute hemorrhagic edema and hyperostosis
Author(s) -
Chandrakasan Shanmuganathan,
Singh Surjit,
Dogra Sunil,
Delaunay Jean,
Proust Alexis,
Minz Ranjana W.
Publication year - 2011
Publication title -
pediatric blood and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.116
H-Index - 105
eISSN - 1545-5017
pISSN - 1545-5009
DOI - 10.1002/pbc.22888
Subject(s) - medicine , hyperostosis , edema , wiskott–aldrich syndrome , dermatology , pathology , surgery , biochemistry , chemistry , gene
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. Pediatr Blood Cancer 2011;56:1130–1132. © 2011 Wiley‐Liss, Inc.