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Unusual protrusion of conjunctiva in two neonates with harlequin ichthyosis

Tomonobu Hazuku1, Kisaburo Yamada, Masamoto Imaizumi

  • 1Department of Ophthalmology, Oita University Faculty of Medicine, Hasama-machi, Yufu-shi, Teikyo University School of Medicine, Tokyo, Japan.

Case Reports in Ophthalmology
|April 9, 2011
PubMed

Insights

Harlequin ichthyosis (HI) can cause severe conjunctival protrusion. Gentle debridement and moisturizing of hyperkeratotic skin improved ocular symptoms in two infants with HI.

Area of Science:

  • Ophthalmology
  • Genetics
  • Neonatology

Background:

  • Harlequin ichthyosis (HI) is a rare, severe genetic disorder of the skin.
  • HI presents with a generalized hyperkeratotic layer, posing unique challenges for affected infants.
  • Ocular complications, including conjunctival protrusion and chemosis, are significant concerns in HI management.

Observation:

  • Two infants diagnosed with Harlequin ichthyosis presented with severe conjunctival protrusion and chemosis.
  • One infant was diagnosed postnatally, while the other had suspected HI via prenatal ultrasonography.
  • Both infants exhibited thickened skin and significant ocular surface abnormalities.

Findings:

  • Treatment involved daily application of a vitamin A derivative and gentle debridement of the hyperkeratotic skin.
  • Meticulous attention was paid to sterilizing and moisturizing the ocular surface.
  • The conjunctival protrusion gradually improved with this conservative management approach.

Implications:

  • Increased survival rates in infants with HI necessitate clear guidelines for ocular management.
  • Conservative, patient-centered care focusing on skin debridement and ocular surface hydration is crucial.
  • Effective management of ocular complications can improve the overall prognosis for infants with Harlequin ichthyosis.
Abstract

Keywords:
ChemosisConjunctival protrusionEctropionIchthyosisUltrasound echography

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