eMedicine Specialties > Pediatrics: General Medicine > Dermatology

Hypomelanosis of Ito: Treatment & Medication

Author: Camila K Janniger, MD, Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, New Jersey Medical School
Coauthor(s): Marcio Sotero de Menezes, MD, Associate Professor, Department of Neurology, Division of Pediatric Neurology, Children's Hospital of Seattle, University of Washington
Contributor Information and Disclosures

Updated: Sep 29, 2008

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.15 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.

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 HI.

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 HI 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, SPECT or PET, high-resolution MRI).

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).

Activity

No restriction in activity is recommended.

Medication

Currently, no drug therapy is specifically indicated for this disease. Treat comorbidities (eg, seizures) according to standard treatment. See Treatment.

More on Hypomelanosis of Ito

Overview: Hypomelanosis of Ito
Differential Diagnoses & Workup: Hypomelanosis of Ito
Treatment & Medication: Hypomelanosis of Ito
Follow-up: Hypomelanosis of Ito
References
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References

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Further Reading

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Keywords

hypomelanosis of Ito, HI, hypomelanosis of Ito syndrome, HI syndrome, incontinentia pigmenti achromians, whirled hypochromic skin lesions, hypopigmented skin, hyperpigmented skin, neurocutaneous disease, seizures, mental retardation, whirled-marble lesions, hemimegalencephaly, lines of Blaschko, whorled nevoid hypermelanosis, nevus depigmentosus, persistent mongolian blue spots, nevus of Ota, nevus marmoratus, angiomatous nevi, soft fibroma, pilomatrixoma, aplasia cutis, atopic dermatitis, slow hair growth, diffuse alopecia, trichorrhexis, widow's peak, generalized hirsutism, facial hypertrichosis, low hairline, ungual hypoplasia, abnormal, generalized tonic-clonic seizures, Lennox-Gastaut syndrome, autism, hypotonia, pes valgus, genu valgus, brain tumors, macrocephaly, microcephaly, medulloblastoma, choroid plexus papilloma, ataxic gait, sensory neuropathy, chronic distal spinal muscular atrophy, torticollis, auditory conduction defect, hyperactivity, spina bifida occulta, visual field defects, polymicrogyria, disarray of cortical lamination, heterotopic neurons in the white matter, tessellated fundus, radial hypopigmented streaks, unilateral heterochromic iris, myopia, hyperopia, astigmatism, megalocornea, opaque corneas, scleral melanosis, strabismus, slow pupillary response, pupillary atrophy, pupillary irregularity, nonclosure of the upper eyelid, ptosis, symblepharon, optic atrophy, choroidal atrophy, microphthalmia, macrophthalmia, epicanthal folds, dacryostenosis, nystagmus, musculoskeletal abnormalities, arm and leg length discrepancy, scoliosis, finger atrophy, syndactyly, polydactyly, clinodactyly, bifid thumb, luxatio coxae, hypertelorism, coarse facies, cleft lip and palate, delayed fontanelle closure, asymmetry of the head, imperfect teeth implantation, partial anodontia, dental dysplasia, defective enamel, hamartomatous cuspids, ventricular septum defect, atrial septum defect, pulmonary artery stenosis, Tetralogy of Fallot, incomplete right bundle branch block, cardiomegaly, hypospadias, micropenis, single kidney, urethral duplication, cryptorchidism, precocious puberty, gynecomastia, asymmetrical breasts, nephritis, segmental dilation of the colon, diaphragmatic hernia, umbilical hernia, inguinal hernia, proteinuria, focal segmental glomerulosclerosis, end-stage renal disease

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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, 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, Associate Professor, Department of Neurology, Division of Pediatric Neurology, Children's Hospital of Seattle, University of Washington
Marcio Sotero de Menezes, MD is a member of the following medical societies: American Academy of Neurology and American Epilepsy Society
Disclosure: Nothing to disclose.

Medical Editor

Kevin P Connelly, DO, Clinical Assistant Professor, Department of Pediatrics, Division of General Pediatrics and Emergency Care, Virginia Commonwealth University; 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, and American Osteopathic Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Robert A Schwartz, MD, MPH, Professor and Head of Dermatology, Professor of Medicine, Professor of Pediatrics, Professor of Pathology, Professor of Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

CME Editor

Merrily P M Poth, MD, Professor, Department of Pediatrics and Neuroscience, Uniformed Services University of the Health Sciences
Merrily P M Poth, MD is a member of the following medical societies: American Academy of Pediatrics, Endocrine Society, and Lawson-Wilkins Pediatric Endocrine Society
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

 
 
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