eMedicine Specialties > Pediatrics: General Medicine > Dermatology

Hypomelanosis of Ito: Follow-up

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

Follow-up

Deterrence/Prevention

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

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 HI 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 HI may lead to secondary dental problems, which, in turn, may lead to increased decay. These require careful attention by a dentist.

Prognosis

  • Prognosis depends on the patient’s manifestations and complications of the disease.
  • About three fourths of patients with typical HI 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 HI, although the cause-effect link is difficult to prove, except in the intractable cases.
  • Patients with chromosomal anomalies are at risk for tumors.

Miscellaneous

Medicolegal Pitfalls

  • The main medicolegal concerns of hypomelanosis of Ito (HI) are related to improper diagnosis and genetic counseling. Failure to warn the family about the potential of systemic complications in a patient with dermatological signs of HI may lead to litigation if the family believes that unnecessary suffering resulted from the lack of diagnosis and information.
  • Educate patients with typical HI skin lesions about the potential for systemic complications, especially neurocognitive (eg, seizures, mental retardation) and tumor-related complications.
  • Proper documentation of the discussion with the parents and the patient is strongly suggested. Provide printed educational material to the families. Always discuss genetic counseling, although HI is only rarely familial.
 


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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