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Related Experiment Video

Updated: May 17, 2026

Neonatal Pial Surface Electroporation

Neonatal Pial Surface Electroporation

Published on: May 7, 2014

[A neonate with a skin defect].

Enes Hajdarbegovic¹, Hok Bing Thio

¹Erasmus Medisch Centrum,afd. Dermatologie, Rotterdam. e.hajdarbegovic@erasmusmc.nl

Nederlands Tijdschrift Voor Geneeskunde

|October 13, 2012

Summary

This study reports a rare case of truncal aplasia cutis in a male neonate. The condition, a congenital skin defect, was diagnosed following the demise of one twin during pregnancy.

Area of Science:

Medical Genetics
Developmental Biology
Neonatology

Background:

Congenital skin defects represent a spectrum of developmental anomalies.
Aplasia cutis congenita (ACC) is a rare condition characterized by localized or widespread absence of skin.
Truncal ACC, affecting the torso, is particularly uncommon.

Observation:

A male neonate presented with a defect involving the skin and subcutaneous tissue on the back.
The pregnancy was initially a twin gestation (gemelli pregnancy).
One fetus demised in utero at 12 weeks gestation.

Findings:

The neonate was diagnosed with truncal aplasia cutis.
The etiology may be related to vascular disruption or developmental field defects, potentially influenced by the loss of a twin.

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Implications:

This case highlights the importance of recognizing rare congenital skin malformations.
Understanding the pathogenesis of truncal ACC can inform genetic counseling and management strategies.
Further research into the developmental processes underlying ACC is warranted.