Recurrent sterile abscesses in a case of X‐linked neutropenia

Abstract

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.