Recurrent sterile abscesses in a case of X-linked neutropenia.
Pediatr Dermatol
; 37(4): 742-744, 2020 Jul.
Article
em En
| MEDLINE
| ID: mdl-32202653
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Dermatopatias
/
Neutropenia
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
/
Child
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article