The triad of pruritus, xanthomas, and cholestasis: Two cases and a brief review of the literature

Pediatr Dermatol. 2017 Nov;34(6):e305-e308. doi: 10.1111/pde.13306.

Abstract

When encountered in children, xanthomas are most commonly associated with a group of disorders known as familial hyperlipidemias. Aside from cosmetic concerns, these xanthomas are typically asymptomatic, but when generalized pruritus is a prominent associated symptom, clinicians should consider a different set of diagnoses that includes cholestasis of the liver. In this article we present two illustrative cases of children with cholestatic disease, pruritus, and xanthomas and discuss other disorders that may include this triad.

Keywords: genetic diseases/mechanisms; pruritus; skin signs of systemic disease.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis*
  • Abnormalities, Multiple / drug therapy
  • Alagille Syndrome / diagnosis*
  • Alagille Syndrome / drug therapy
  • Anesthetics, Local / administration & dosage
  • Ataxia / diagnosis*
  • Ataxia / drug therapy
  • Brain / abnormalities*
  • Child
  • Child, Preschool
  • Cholestasis / diagnosis
  • Cholestasis / drug therapy
  • Cholestasis / etiology*
  • Coloboma / diagnosis*
  • Coloboma / drug therapy
  • Desonide / administration & dosage
  • Diagnosis, Differential
  • Dyslipidemias / diagnosis
  • Dyslipidemias / etiology*
  • Female
  • Histamine Antagonists / therapeutic use*
  • Humans
  • Liver Diseases / diagnosis*
  • Liver Diseases / drug therapy
  • Morpholines / administration & dosage
  • Pruritus / etiology
  • Xanthomatosis / etiology

Substances

  • Anesthetics, Local
  • Histamine Antagonists
  • Morpholines
  • pramoxine
  • Desonide

Supplementary concepts

  • COACH syndrome