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Rare disease
Case report
Harlequin ichthyosis from birth to 12 years
  1. Jemima Heap1,
  2. Mary Judge2 and
  3. Beena Padmakumar3
  1. 1Pennine Acute Hospitals NHS Trust, Manchester, UK
  2. 2Salford Royal NHS Foundation Trust, Salford, UK
  3. 3Paediatrics, Royal Oldham Hospital, Manchester, UK
  1. Correspondence to Dr Jemima Heap; jemima.heap{at}doctors.org.uk

Abstract

A neonate was born with generalised, erythrodermic, thick, fissured skin, severe ectropion, hypoplastic auricles and limb abnormalities. A clinical diagnosis of harlequin ichthyosis was made, allowing supportive therapies to be commenced promptly. Oral acitretin was initiated on day 3 of life, complemented by an intensive skin care regimen. Rehydration, prevention and treatment of infection, temperature control and nutritional support were all essential to see him through the neonatal period. Nearly 12 years later, this child continues to receive multidisciplinary input and enjoys a good quality of life.

  • paediatrics
  • dermatology

https://doi.org/10.1136/bcr-2020-235225

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    Footnotes

    • Contributors Original case managed by BP and MJ. Case report written and redrafted by JH with critical revisions by BP and MJ.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Parental/guardian consent obtained.

    • Provenance and peer review Not commissioned; externally peer reviewed.