Recurrent sterile abscesses in a case of X‐linked neutropenia

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 develope...

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Bibliographic Details
Published in:Pediatric dermatology 2020-07, Vol.37 (4), p.742-744
Main Authors: 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.
Format: Article
Language:English
Subjects:
Abscess - diagnosis
Abscess - genetics
Abscesses
Adolescent
Case reports
Child
dermatopathology
Humans
immunodeficiency
Inflammation
inflammatory disorders
Leukocytes (neutrophilic)
Male
Neutropenia
Neutropenia - diagnosis
Neutropenia - genetics
Pediatrics
Skin Diseases
Skin lesions
skin signs of systemic disease
Systemic diseases
Whole Exome Sequencing
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Summary: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.
ISSN:0736-8046
1525-1470
DOI:10.1111/pde.14146