# Incontinentia Pigmenti: A Rare Case of Survival of a Male Infant

## TL;DR

A rare case of a male infant surviving with incontinentia pigmenti, a typically lethal X-linked disorder, is reported, highlighting unusual genetic factors and the need for ongoing monitoring.

## Contribution

The case presents a rare male survival with incontinentia pigmenti and no IKBKG mutations, suggesting somatic mosaicism as a possible mechanism.

## Key findings

- The male infant showed typical skin symptoms of incontinentia pigmenti but no neurological, dental, or ocular issues.
- Genetic testing found no IKBKG mutations, indicating a possible somatic mosaicism mechanism for survival.
- The case emphasizes the need for multidisciplinary follow-up in male IP patients for potential extracutaneous complications.

## Abstract

This case describes a seven-month-old male infant with incontinentia pigmenti (IP), a rare X-linked dominant disorder that is typically lethal in male fetuses. The infant presented with blaschkoid hyperpigmentation but showed no neurologic, dental, or ocular abnormalities. Genetic testing revealed a normal karyotype without IKBKG (inhibitor of nuclear factor kappa B kinase regulatory subunit gamma) mutations, suggesting possible somatic mosaicism, a rare survival mechanism in male patients with IP. This case underscores the rarity of IP in male infants and highlights the need for multidisciplinary follow-up to monitor potential extracutaneous involvement. These findings contribute to the limited understanding of male presentations of IP and their clinical management.