From the Research
Incontinentia pigmenti is a rare X-linked dominant genetic disorder primarily affecting females and characterized by distinctive skin abnormalities that evolve through four stages, with a high risk of neurological, ocular, and dental complications, necessitating a multidisciplinary approach for management, as highlighted in the most recent study from 2024 1. The disorder is caused by mutations in the NEMO/IKBKG gene on the X chromosome, which regulates NF-κB signaling important for immune function and protection against apoptosis, as noted in a study from 2017 2. The skin manifestations of incontinentia pigmenti do not require specific treatment other than reassurance, as spontaneous resolution of the lesions usually occurs, according to a study from 2007 3. However, a study from 2009 4 suggested that topical tacrolimus may be effective in treating the vesicular stage of the disease. Key features of incontinentia pigmenti include:
- Distinctive skin abnormalities that evolve through four stages: inflammatory vesicles and blisters, wartlike growths, hyperpigmentation in swirling patterns, and hypopigmented, atrophic areas
- Neurological abnormalities, such as seizures, developmental delay, and microcephaly, affecting 30-50% of patients
- Ocular issues, including strabismus, cataracts, and retinal abnormalities, affecting 35-40% of patients
- Dental anomalies, such as missing teeth, delayed eruption, and conical teeth, present in 80% of cases
- A multidisciplinary approach to management, involving dermatologists, neurologists, ophthalmologists, and dentists, is essential to address the various manifestations of the disease, as recommended in a consensus statement from 2020 5.