Dermatological clues to the diagnosis of atypical complete DiGeorge syndrome

Dermatol Online J. 2016 Nov 15;22(11):13030/qt90k681pb.

Abstract

Atypical complete DiGeorge syndrome (DGS) is an extremely rare congenital disease characterized by an eczematous dermatitis, lymphadenopathy, and an oligoclonal T-cell proliferation. Because its initial presentation may be confused with other types of eczematous dermatitis, diagnosis and treatment are usually delayed. We describe herein a case of an infant with atypical complete DGS to draw attention to the clinical and histopathological findings that lead us to the diagnosis.

Publication types

  • Case Reports

MeSH terms

  • DiGeorge Syndrome / complications
  • DiGeorge Syndrome / diagnosis*
  • Humans
  • Infant
  • Male
  • Skin / pathology*
  • Skin Diseases / diagnosis*
  • Skin Diseases / etiology
  • Skin Diseases / pathology