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Recurrent sterile abscesses in a case of X‐linked neutropenia
Author(s) -
Biggs Catherine M.,
Modi Bhavi,
Steinraths Michelle,
Del Bel Kate,
Pourshahnazari Persia,
Griffiths Cameron,
Forrest David M.,
Prendiville Julie,
Dutz Jan P.,
Turvey Stuart E.,
Cameron Scott B.
Publication year - 2020
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14146
Subject(s) - medicine , etiology , neutropenia , congenital neutropenia , exome sequencing , dermatology , pediatric infectious disease , pediatrics , mutation , surgery , pathology , gene , chemotherapy , genetics , biology
Cutaneous manifestations are common in monogenic immune disorders, including both infectious and non‐infectious etiologies. We report follow‐up of a case initially published in Pediatric Dermatology in 2001 of a 13‐year‐old boy with a history of inflammatory skin lesions and neutropenia who developed neutrophilic dermatoses precipitated by G‐CSF. Whole exome sequencing performed at 36 years of age revealed a gain‐of‐function mutation in the WAS gene, leading to a diagnosis of X‐linked neutropenia. This case report provides closure on a decades‐long diagnostic odyssey and underscores the importance of genetic sequencing in patients who present with unusual dermatologic findings.