Pediatric Hypomelanosis of Ito Treatment & Management

Updated: Jul 19, 2017
  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
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Treatment

Medical Care

No specific treatment is available for hypomelanosis of Ito (HI).

Treat seizures depending on the specific seizure type and epileptic syndrome (see Status Epilepticus, Complex Partial Seizures).

Partial seizures may respond to the usual anticonvulsant medications, such as carbamazepine, phenytoin, lamotrigine, gabapentin, and topiramate.

Infantile spasms should be treated accordingly with adrenocorticotropic hormone (ACTH), vigabatrin, valproic acid, or topiramate.

Approximately 30% of patients with seizures do not respond to anticonvulsant medications; therefore, these patients may need an appropriate evaluation to verify if they are good candidates for resective epilepsy surgery, ketogenic diet, or vagal nerve stimulation. In these patients, perform a prolonged video-EEG to document the zone of ictal onset.

Always offer the patient and parents genetic consultation.

Traditional depigmenting agents (eg, hydroquinone, corticosteroids, kojic acid) may be used. [26] In addition, active compounds isolated from plants (eg, arbutin, aloesin, gentisic acid, flavonoids, hesperidin, licorice, niacinamide, yeast derivatives, polyphenols) may inhibit melanogenesis without melanocytotoxicity and merit further evaluation.

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Surgical Care

Approximately 30% of patients with seizures do not respond to anticonvulsant medications. In these patients, conduct an appropriate evaluation to verify if they are good candidates for resective epilepsy surgery or vagal nerve stimulation.

The patient may have large lesions and require a hemispherectomy for the treatment of their refractory epilepsy; however, in other cases, the removal of a more focal lesion may stop the seizures.

Cataracts and retinal detachment may produce loss of vision and can be successfully treated with surgery.

In patients with craniofacial malformation, such as cleft lip and palate, repair is done in the same fashion as in patients without hypomelanosis of Ito.

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Consultations

Consultation with an orthopedic specialist is indicated for patients with skeletal abnormalities.

Suggest consultation with an ophthalmologist for patients with ophthalmologic abnormalities.

Consultation with a nephrologist is recommended for patients with renal abnormalities.

Suggest a consultation with an endocrinologist for patients with associated abnormalities.

Patients with hypomelanosis of Ito who were initially seen by a dermatologist may benefit from a consultation with a neurologist; conversely, patients initially referred to a neurologist may benefit from a consultation with a dermatologist and geneticist. Always offer the patient and parents the option of a consultation with a geneticist.

Refer patients who have seizures that are not completely controlled by anticonvulsant medications to an appropriate tertiary center with a comprehensive epilepsy program for proper evaluation (video-EEG, single-photon emission computed tomography [SPECT] or positron emission tomography [PET], high-resolution MRI).

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Diet

No dietary restrictions are indicated. Patients with seizures who are unresponsive to anticonvulsant medication may benefit from a high-fat, low-carbohydrate diet (ie, the ketogenic diet).

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Activity

No restriction in activity is recommended.

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Prevention

Hypomelanosis of Ito (HI) cannot be prevented, except in rare cases of familial hypomelanosis of Ito.

Because familial hypomelanosis of Ito is autosomal dominant, genetic counseling is indicated as a way to prevent new cases in the same family. Nonetheless, most cases are a de novo occurrence.

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