Hypomelanosis of Ito Clinical Presentation

  • Author: John Louis Ratz; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jan 13, 2012
 

History

  • Patients with hypomelanosis of Ito usually seek care from a dermatologist, pediatrician, or neurologist by the time they are aged 2 years.
  • The hypopigmentation is not preceded by vesicular or verrucous lesions. This feature is in contrast to the usual presentation of incontinentia pigmenti.
  • A family history of hypomelanosis of Ito is rare.
  • The patient or parent should be asked about the following:
    • Seizures
    • Mental retardation
    • Developmental delay
    • Deafness
    • Visual problems
    • Headache
    • Tooth or mouth problems
  • Congenital abnormalities, mental retardation, and seizures are the most commonly associated conditions, as reported in the medical literature.[4] Cerebral malformations may occur and visual impairment may be cortical in nature.[5, 6] Glomerulocystic kidney disease has been reported.[7]
  • The literature contains reviews, mostly from neurology departments, that report rates of hypomelanosis of Ito-associated neurologic abnormalities as high as 75-94%.
    • The present authors believe that these reviews are inherently biased.
    • More recent groups estimate that the associated anomaly rate is 30-50%.
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Physical

  • Small 0.5-1-cm hypopigmented or white macules coalesce to form reticulated patches along the lines of Blaschko.
    • The macules cover more than 2 dermatomes and are often on both sides of the body.
    • The patches are not symmetric.
    • A Wood lamp enhances the pattern, especially in white patients (see Media Files 1-3).Hypomelanosis of Ito on the arm. Hypomelanosis of Ito on the arm. Hypomelanosis of Ito highlighted with a Wood lamp.Hypomelanosis of Ito highlighted with a Wood lamp. Hypomelanosis of Ito on the torso. Hypomelanosis of Ito on the torso.
  • Careful full body examination is needed to detect dysmorphism, such as the following:
    • Cleft palate
    • Hemihypertrophy
    • Limb, hand, and/or foot abnormalities
    • Nail abnormalities
    • Hypotonia
    • Teeth abnormalities
    • Hair anomalies
    • Face and/or skull anomalies
  • Neurologic examination is essential to evaluate neural tumors, seizures, and psychomotor delay.
  • The common finding in all these patients is the pigmentary changes and the associations with neurologic, skeletal, and other congenital abnormalities.
  • Normal systemic findings are present in approximately 50% of patients with hypomelanosis of Ito.
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Causes

Chromosomal mosaicism and sporadic mutations are the causes of hypomelanosis of Ito, but the identity of a specific gene has not been confirmed.

  • Probably, several gene abnormalities cause the phenotype that is recognized as hypomelanosis of Ito.
  • For this reason, some authors believe that hypomelanosis of Ito is a symptom and that it may not be a distinct disease.
  • Some believe that hypomelanosis of Ito results in the somatic mosaicism of the incontinentia pigmenti gene, which makes the condition less lethal.
  • The common findings in all these patients are the pigmentary changes and the associations with neurologic, skeletal, and other congenital abnormalities.
  • However, the authors believe that incontinentia pigmenti and hypomelanosis of Ito are distinct diseases with separate gene loci: Xp28 for incontinentia pigmenti and 9q33-ter, 15q11, Xp11, and Xp21.2 for hypomelanosis of Ito.
  • The previously described sporadic incontinentia pigmenti gene at Xp11 is now believed to be related to hypomelanosis of Ito.
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Contributor Information and Disclosures
Author

John Louis Ratz  MD, MBA, Private Practice Dermatologist, Mohs Surgeon, Tampa, Florida

John Louis Ratz is a member of the following medical societies: American Academy of Dermatology, American College of Mohs Micrographic Surgery and Cutaneous Oncology, American College of Physicians, American Society for Dermatologic Surgery, American Society for Laser Medicine and Surgery, International Society for Dermatologic Surgery, and Southern Medical Association

Disclosure: Nothing to disclose.

Coauthor(s)

Ned Gross, MD  President, Piedmont Dermatology Center, PC

Ned Gross, MD is a member of the following medical societies: American Academy of Dermatology and American Medical Association

Disclosure: Nothing to disclose.

Specialty Editor Board

Sungnack Lee, MD  Vice President of Medical Affairs, Professor, Department of Dermatology, Ajou University School of Medicine, Korea

Sungnack Lee, MD is a member of the following medical societies: American Dermatological Association

Disclosure: Nothing to disclose.

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Christen M Mowad, MD  Associate Professor, Department of Dermatology, Geisinger Medical Center

Christen M Mowad, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

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

Disclosure: Nothing to disclose.

References

  1. Nehal KS, PeBenito R, Orlow SJ. Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko. Arch Dermatol. Oct 1996;132(10):1167-70. [Medline].

  2. Gupta S, Shah S, Mcgaw A, Mercado T, Zaslav AL, Tegay D. Trisomy 2 mosaicism in hypomelanosis of Ito. Am J Med Genet A. Oct 15 2007;143A(20):2466-8. [Medline].

  3. McKusic VA. Online Mendelian Inheritance in Man (OMIM) [serial online]. Available at http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim.

  4. Assogba K, Ferlazzo E, Striano P, Calarese T, Villeneuve N, Ivanov I, et al. Heterogeneous seizure manifestations in Hypomelanosis of Ito: report of four new cases and review of the literature. Neurol Sci. Feb 2010;31(1):9-16. [Medline].

  5. Scott A, Micallef C, Hale SL, Watts P. Cortical visual impairment in hypomelanosis of Ito. J Pediatr Ophthalmol Strabismus. Jul-Aug 2008;45(4):240-1. [Medline].

  6. Iype M, Iype T, Geetha S, Retnakumar J. Hypomelanosis of Ito with cerebral malformation. Indian J Pediatr. Nov 2007;74(11):1044-5. [Medline].

  7. Vergine G, Mencarelli F, Diomedi-Camassei F, et al. Glomerulocystic kidney disease in hypomelanosis of Ito. Pediatr Nephrol. Jul 2008;23(7):1183-7. [Medline].

  8. Donnai D, Read AP, McKeown C, Andrews T. Hypomelanosis of Ito: a manifestation of mosaicism or chimerism. J Med Genet. Dec 1988;25(12):809-18. [Medline].

  9. Fritz B, Kuster W, Orstavik KH, Naumova A, Spranger J, Rehder H. Pigmentary mosaicism in hypomelanosis of Ito. Further evidence for functional disomy of Xp. Hum Genet. Oct 1998;103(4):441-9. [Medline].

  10. Glover MT, Brett EM, Atherton DJ. Hypomelanosis of Ito: spectrum of the disease. J Pediatr. Jul 1989;115(1):75-80. [Medline].

  11. Hatchwell E. Hypomelanosis of Ito and X;autosome translocations: a unifying hypothesis. J Med Genet. Mar 1996;33(3):177-83. [Medline].

  12. Pascual-Castroviejo I, Roche C, Martinez-Bermejo A, et al. Hypomelanosis of ITO. A study of 76 infantile cases. Brain Dev. Jan 1998;20(1):36-43. [Medline].

 
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Hypomelanosis of Ito on the arm.
Hypomelanosis of Ito highlighted with a Wood lamp.
Hypomelanosis of Ito on the torso.
 
 
 
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