Harlequin ichthyosis from birth to 12 years

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Jemima Heap1, Mary Judge2, Beena Padmakumar3

  • 1Pennine Acute Hospitals NHS Trust, Manchester, UK jemima.heap@doctors.org.uk.

BMJ Case Reports
|August 28, 2020
PubMed

Insights

Harlequin ichthyosis, a severe skin condition, was diagnosed in a neonate. Early treatment with oral acitretin and intensive supportive care led to a good quality of life.

Area of Science:

  • Dermatology
  • Neonatology
  • Genetics

Background:

  • Harlequin ichthyosis is a rare, severe congenital skin disorder.
  • Affected neonates present with characteristic thick, fissured skin and systemic complications.
  • Prompt diagnosis and management are critical for survival.

Observation:

  • A neonate presented with classic signs of harlequin ichthyosis.
  • Clinical diagnosis enabled immediate implementation of supportive measures.
  • Oral acitretin therapy was initiated on the third day of life.

Findings:

  • Intensive skin care, rehydration, infection control, temperature regulation, and nutritional support were vital.
  • The infant successfully navigated the critical neonatal period.
  • Long-term multidisciplinary input has led to a good quality of life.

Implications:

  • Early diagnosis and aggressive supportive care are critical for neonatal survival in harlequin ichthyosis.
  • Oral acitretin can be an effective treatment option in the neonatal period.
  • Long-term management involving multidisciplinary teams is essential for optimizing quality of life in survivors.

Keywords:
dermatologypaediatrics

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