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Related Experiment Video

Updated: Nov 1, 2025

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5

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Published on: April 26, 2019

[Incontinentia pigmenti in a newborn boy].

Kristin Bergmann¹, Pernille Aléx Gregersen, Jesper Graakjær

¹bergmann@dadlnet.dk.

Ugeskrift for Laeger

|June 25, 2021

Summary

Incontinentia pigmenti is a rare X-linked disorder. This case report details a male infant diagnosed with incontinentia pigmenti, highlighting the importance of early detection and multidisciplinary care.

Area of Science:

Genetics
Dermatology
Neurology

Background:

Incontinentia pigmenti (IP) is a rare X-linked dominant neurocutaneous ectodermal dysplasia.
Typically lethal in males in utero, it can occur in rare cases of mosaicism or Klinefelter syndrome.

Observation:

This report details a rare case of IP in a newborn male.
The infant presented with characteristic skin eruptions along Blaschko's lines.

Findings:

Histopathology and genetic testing confirmed the diagnosis of incontinentia pigmenti.
The case underscores the possibility of IP manifestation in males under specific genetic conditions.

Implications:

Early diagnosis of incontinentia pigmenti is crucial for timely intervention.

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Management often requires a multidisciplinary approach involving various specialists.