Recurrent sterile abscesses in a case of X-linked neutropenia

Pediatr Dermatol. 2020 Jul;37(4):742-744. doi: 10.1111/pde.14146. Epub 2020 Mar 23.

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.

Keywords: dermatopathology; immunodeficiency; inflammatory disorders; skin signs of systemic disease.

Publication types

  • Case Reports

MeSH terms

  • Abscess / diagnosis
  • Abscess / genetics
  • Adolescent
  • Child
  • Exome Sequencing
  • Humans
  • Male
  • Neutropenia* / diagnosis
  • Neutropenia* / genetics
  • Skin Diseases*