Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndrome

J AAPOS. 2017 Jun;21(3):249-251. doi: 10.1016/j.jaapos.2017.05.011. Epub 2017 May 19.

Abstract

Blau syndrome is an early-onset granulomatous disease known to affect the skin, joints, and eyes. We report a child with diffuse rash, arthritis, and subconjunctival nodules. Biopsy of the bulbar conjunctiva revealed noncaseating lipogranulomas that lead to a diagnosis of Blau syndrome. To our knowledge, noncaseating lipogranulomas of the conjunctiva have not been reported previously as a presenting finding in Blau syndrome. Although uveitis is the classic manifestation, it is important to broaden the awareness of other ocular signs, as these variations can aid in diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Arthritis / diagnosis*
  • Arthritis / drug therapy
  • Arthritis / genetics
  • Conjunctival Diseases / diagnosis*
  • Conjunctival Diseases / drug therapy
  • Conjunctival Diseases / genetics
  • Farber Lipogranulomatosis / diagnosis*
  • Farber Lipogranulomatosis / drug therapy
  • Farber Lipogranulomatosis / genetics
  • Fluorometholone / therapeutic use
  • Glucocorticoids / therapeutic use
  • Humans
  • Infant
  • Male
  • Mutation
  • Nod2 Signaling Adaptor Protein / genetics
  • Sarcoidosis
  • Synovitis / diagnosis*
  • Synovitis / drug therapy
  • Synovitis / genetics
  • Uveitis / diagnosis*
  • Uveitis / drug therapy
  • Uveitis / genetics
  • Whole Exome Sequencing

Substances

  • Glucocorticoids
  • NOD2 protein, human
  • Nod2 Signaling Adaptor Protein
  • Fluorometholone

Supplementary concepts

  • Blau syndrome