Approach Considerations

While the cutaneous manifestations of incontinentia pigmenti may be dramatic, the main concerns with regard to short- and long-term morbidity are related to ophthalmologic and neurologic sequelae.

Medical Care

Treatment is not usually required for the cutaneous lesions, although use of topical tacrolimus and topical corticosteroids has been reported to hasten the resolution of the inflammatory stage.^{[59, 60]}The vesicles of the inflammatory stage should be left intact, and the skin should be monitored for the development of secondary bacterial infections. Emollients and topical antibiotics may be used as needed. As there is a risk for the development of cutaneous malignancy, in particular subungual keratinocytic tumors and tumors within areas of hyperpigmentation and hypopigmentation, periodic skin examinations with attention to skin cancer screening are warranted.

Oral hygiene and regular dental care is necessary, and dental restoration may be indicated.

Seizures should be treated with anticonvulsants. Additionally, routine neurodevelopmental assessments should be made, with referral to occupational and physical therapists as warranted. The use of systemic corticosteroids has been reported to reduce neurologic symptoms, including seizure frequency, in neonates with encephalopathy.^{[61, 62]}Of note, in a mouse model of incontinentia pigmenti, intravenous administration of an adenovirus-associated vector containing a normal NEMO gene was associated with a reduced incidence and a delayed onset of seizures.^[63]

Frequent ophthalmologic evaluations are required, especially during the first year of life, in order to diagnose and treat potential ophthalmologic complications.

Surgical Care

Abnormal retinal fibrovascular proliferation can be treated with xenon laser photocoagulation or cryosurgery.^{[64, 65]}

Retinal detachments may be treated using vitreoretinal surgery.

Consultations

Consultation with the following specialists may be needed:

Dermatologists may help in the initial evaluation and can perform a skin biopsy to aid in diagnosis.
Ophthalmologists can perform regular ophthalmologic examinations and manage any ophthalmologic sequelae.
Neurologists can perform a complete initial neurologic examination (including imaging studies and EEG), initiate and monitor anticonvulsant therapy in patients with seizures, and facilitate neurodevelopmental evaluation and intervention.
General dentists can provide regular dental care, screening for dental complications, and restorative dental care.
Geneticists can provide appropriate genetic counseling and genetic testing for the patient and his or her family.

Long-Term Monitoring

The presence of variable disease expression in an affected family makes monitoring for potential complications important. Regular follow-up with a neurologist, ophthalmologist, dentist, and dermatologist should be coordinated as needed.

Medication

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Media Gallery

A 19-day-old female neonate with incontinentia pigmenti. Clean tense vesicles in linear groups are seen extending from the inner aspect of the right knee to the posterior aspect of the right leg and right sole.
A 40-day-old female infant who first presented with incontinentia pigmenti when she was aged 19 days. The vesicles have disappeared, leaving a brownish pigmentation with verrucous lesions.
A 20-day-old female neonate with incontinentia pigmenti. Bullae, vesicles, and verrucous lesions are seen on the lower extremities and buttocks.
A 27-day-old female neonate who first presented with incontinentia pigmenti when she was aged 20 days. Note the verrucous eruptions with brownish pigmentation in a streaky linear pattern on the left leg.
Histologic features of a vesicle in a 20-day-old female neonate who presented with incontinentia pigmenti. The epidermis shows acanthosis, spongiosis, and vesicles, which contain an inflammatory infiltrate that includes eosinophils. The epidermis between the vesicles also shows dyskeratotic cells, either singly or in small clusters (hematoxylin and eosin, original magnification X100).
A 7-month-old female infant with incontinentia pigmenti. Brownish pigmentation in a linear whorled or reticular pattern is present on the trunk.
A 1-year-old girl who first presented with incontinentia pigmenti when she was aged 7 months. Note that the pigmentation on the left thigh and leg is similar to that on the trunk.
A 6-year-old girl who first presented with incontinentia pigmenti when she was aged 7 months. Note that the brownish pigmentation on the trunk has largely disappeared, and a small area of pigmentation is left.
Histologic features of the pigmented skin from a 6-year-old girl with incontinentia pigmenti. An inflammatory infiltrate that includes eosinophils is present in the epidermis. Many melanophages are seen in the upper part of the dermis (hematoxylin and eosin, original magnification X100).
Typical bullous eruption in a neonate with incontinentia pigmenti.
Blaschkoid hyperpigmentation in an infant with incontinentia pigmenti.
Conical teeth in an infant with incontinentia pigmenti.