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Pediatric Hypomelanosis of Ito Treatment & Management

  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Jun 24, 2016
 

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.[25] 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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Contributor Information and Disclosures
Author

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Coauthor(s)

Marcio Sotero de Menezes, MD Clinical Associate Professor, Department of Neurology, Division of Pediatric Neurology, Seattle Children's Hospital, University of Washington School of Medicine; Director, Pediatric Neuroscience Center and Genetic Epilepsy Clinic, Swedish Neuroscience Institute

Marcio Sotero de Menezes, MD is a member of the following medical societies: American Academy of Neurology, American Epilepsy Society

Disclosure: Received salary from Novartis for speaking and teaching; Received salary from Cyberonics for speaking and teaching; Received salary from Athena diagnostics for speaking and teaching.

Specialty Editor Board

Mary L Windle, PharmD Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public Affairs and Administration

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, New York Academy of Medicine, American Academy of Dermatology, American College of Physicians, Sigma Xi

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Kevin P Connelly, DO Clinical Assistant Professor, Department of Pediatrics, Division of General Pediatrics and Emergency Care, Virginia Commonwealth University School of Medicine; Medical Director, Paws for Health Pet Visitation Program of the Richmond SPCA; Pediatric Emergency Physician, Emergency Consultants Inc, Chippenham Medical Center

Kevin P Connelly, DO is a member of the following medical societies: American Academy of Pediatrics, American College of Osteopathic Pediatricians, American Osteopathic Association

Disclosure: Nothing to disclose.

References
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Hypomelanosis of Ito on the torso.
 
 
 
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