Incontinentia pigmenti with ocular involvement: two cases

Area of Science:

• Genetics
• Dermatology
• Pediatrics

Background:

• Incontinentia pigmenti (IP) is a rare X-linked dominant disorder.
• It manifests with characteristic cutaneous signs and symptoms at or shortly after birth.
• Beyond skin manifestations, IP can involve the central nervous system (CNS), eyes, and teeth.

Observation:

• This report presents two pediatric patients diagnosed with Incontinentia pigmenti.
• Both patients were observed during the verrucous stage of the disease.
• The clinical presentation and progression of IP were documented.

Findings:

• The study highlights the diverse clinical manifestations of Incontinentia pigmenti.
• It emphasizes the importance of recognizing the verrucous stage for timely diagnosis.
• Literature review provides insights into the diagnostic criteria and disease course.

Implications:

• Early diagnosis of Incontinentia pigmenti is crucial for managing associated systemic complications.
• Understanding the disease course aids in predicting potential long-term outcomes.
• This case review contributes to the medical knowledge base for Incontinentia pigmenti management.