Incontinentia pigmenti: three cases with unusual features

Area of Science:

• Dermatology
• Genetics
• Ophthalmology

Background:

• Incontinentia pigmenti (IP) is a rare genetic disorder affecting the skin, hair, nails, teeth, and central nervous system.
• Early diagnosis and understanding of its varied clinical presentations are crucial for management.

Observation:

• Three patients with IP presented with diverse and unusual clinical features.
• One patient exhibited characteristics of the fourth stage of IP, including atrophic, hypopigmented streaks.
• The mother of this patient displayed similar leg streaks, axillary pigmentation, alopecia, and dental anomalies.

Findings:

• The study details the progression of skin lesions in IP, from blisters to atrophic streaks and scarring.
• Ophthalmologic and dental abnormalities are common comorbidities in IP patients.
• The case of the second child included annular blisters, verrucous plaques, and whorled hyperpigmentation.

Implications:

• This case series expands the understanding of the phenotypic variability of incontinentia pigmenti.
• Recognizing these unusual manifestations aids in earlier diagnosis and intervention for affected individuals.
• Further research into the genetic basis and long-term outcomes of IP is warranted.