Pediatric Hypomelanosis of Ito Follow-up

  • Author: Camila K Janniger, MD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: May 16, 2011
 

Deterrence/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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Complications

Seizures are due directly to cerebral malformations. Patients with seizures, especially those with infantile spasms, are at risk for mental retardation and autistic behavior. Careful screening and follow-up with cognitive testing are suggested. Because seizures are often difficult to control using anticonvulsant medications, patients who have intractable partial seizures with secondary generalization or infantile spasms are at risk for neurocognitive deterioration; therefore, a workup should be completed at an epilepsy center.

Because of the possibility of ophthalmologic complications or manifestations, refer the patient to an ophthalmologist (see Consultations).

Similarly, patients with the following urologic (cryptorchidism), endocrinic, and renal complications need specialized follow-up:

  • Hypospadias
  • Micropenis
  • Single kidney
  • Urethral duplication
  • Precocious puberty
  • Gynecomastia
  • Asymmetrical breasts
  • Nephritis

Various benign and malignant tumors may complicate the course of hypomelanosis of Ito because their manifestations may be protean. Remain attentive for any change in clinical status and consider the possibility of a tumor. Similarly, any significant and unexplained change in neurological status should raise suspicion for a brain tumor; therefore, consider MRI in these cases.

Craniofacial malformations, such as cleft lip and palate, may significantly affect the well-being of patients by interfering with their feeding and speech. The management of these complications requires consultation with a team of craniofacial specialists, including a plastic surgeon, craniofacial surgeon, or both and a speech therapy specialist.

Many of the dental malformations (eg, dental dysplasia, defective enamel, hamartomatous cuspids) seen in patients with hypomelanosis of Ito may lead to secondary dental problems, which, in turn, may lead to increased decay. These require careful attention by a dentist.

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Prognosis

  • Prognosis depends on the patient’s manifestations and complications of the disease.
  • About three fourths of patients with typical hypomelanosis of Ito skin lesions have systemic manifestations of the disease.
  • As many as three fourths of patients have neurological symptoms in the first decade of life. Cognitive deficit is defined as an IQ of less than 70. Association of mental retardation and seizures suggests hypomelanosis of Ito, although the cause-effect link is difficult to prove, except in the intractable cases.
  • Patients with chromosomal anomalies are at risk for tumors.
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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, University of Medicine and Dentistry of New Jersey-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 School of Medicine

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

Disclosure: Novartis Salary Speaking and teaching; Cyberonics Salary Speaking and teaching; Athena diagnostics Salary Speaking and teaching

Specialty Editor Board

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, and American Osteopathic Association

Disclosure: Nothing to disclose.

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, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-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.

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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