# Early Neonatal Death in Harlequin Ichthyosis: A Case Report and Literature Review

**Authors:** Ahmed Alanzi, Dawood Alatefi, Malik Alkabazi, Bano Alsaleh, Amir Fouad, Islam Al Oraby

PMC · DOI: 10.1002/ccr3.71190 · Clinical Case Reports · 2025-10-15

## TL;DR

This paper presents a case of a newborn with Harlequin ichthyosis who died despite medical care, emphasizing the condition's severity and diagnostic difficulties.

## Contribution

The paper adds a new clinical case to the limited literature on Harlequin ichthyosis and discusses its management challenges.

## Key findings

- The neonate exhibited severe symptoms including ectropion and thick scales.
- Despite optimal care, the infant died on the second day of life.
- The case underscores the poor prognosis and diagnostic challenges of Harlequin ichthyosis.

## Abstract

Harlequin ichthyosis is a rare, life‐threatening neonatal disorder often mistaken for collodion baby. We report a 37‐week neonate with severe ectropion, eclabium, and thick fissured scales who died on Day 2 despite optimal care. This case highlights the diagnostic challenges, intensive management needs, and poor prognosis of Harlequin ichthyosis.

## Linked entities

- **Diseases:** Harlequin ichthyosis (MONDO:0009443)

## Full-text entities

- **Diseases:** Neonatal Death (MESH:D066087), collodion (MESH:C564306), Harlequin Ichthyosis (MESH:D017490), ectropion (MESH:D004483), neonatal disorder (MESH:D007232)

## Full text

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## Figures

5 figures with captions in the complete paper: https://tomesphere.com/paper/PMC12528539/full.md

## References

26 references — full list in the complete paper: https://tomesphere.com/paper/PMC12528539/full.md

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Source: https://tomesphere.com/paper/PMC12528539