Incontinentia pigmenti: a rare genodermatosis in a male child

Area of Science:

• Genodermatoses
• Genetics
• Pediatric Dermatology

Background:

• Incontinentia pigmenti (IP) is a rare, X-linked dominant genodermatosis.
• IP exhibits variable expression in females and is typically lethal in males due to in utero death.
• The disorder presents in four distinct stages: vesicular, verrucous, hyperpigmented, and atrophic.

Observation:

• This report focuses on an extremely rare case of a male infant diagnosed with Incontinentia pigmenti.
• The patient presented with manifestations consistent with the early stages of the disorder.
• Serial follow-up allowed for observation of the progression through the initial three stages.

Findings:

• The male infant demonstrated the vesicular, verrucous, and hyperpigmented stages of Incontinentia pigmenti.
• The co-occurrence of multiple stages in a single patient, particularly in a male, is uncommon.
• This case highlights the potential for survival and observable disease progression in male infants with IP.

Implications:

• This case expands the limited understanding of Incontinentia pigmenti in males.
• It underscores the importance of recognizing diverse clinical presentations of rare genetic disorders.
• Further research into the genetic and clinical spectrum of IP in males is warranted.