Van Lohuizen Syndrome - A Case Report with a Diagnostic Delay of Four Years

Open Access Maced J Med Sci. 2018 Jan 2;6(1):74-75. doi: 10.3889/oamjms.2018.024. eCollection 2018 Jan 25.

Abstract

Background: Cutis marmorata telangiectatic congenital or Van Lohuizen syndrome is a rare vascular disorder that may be associated with other congenital malformations. Around 300 cases have been reported so far.

Case report: We present a 4-year-old girl with Van Lohuizen syndrome of the leg, but without any other malformations.

Conclusion: Neonatal lupus erythematosus may resemble congenital vasculopathy, but histopathology and immune-serology are characteristic.

Keywords: Cutis marmorata telangiectatica congenita; Van Lohuizen syndrome; vascular-cutaneous disorders.

Publication types

  • Case Reports