Hypomelanosis of Ito Workup

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

Laboratory Studies

  • Only history taking and physical examination with special attention to the neurologic and ophthalmologic findings are necessary to detect abnormalities associated with hypomelanosis of Ito (HI).
  • Consider genetic and/or chromosomal testing; these tests should be coordinated with someone who is conducting research on this disease.
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Imaging Studies

  • Perform imaging only as indicated by the features of the history and physical examination.
  • CT and/or MRI of head should be performed in those with neurologic symptoms.
  • Skeletal radiography should be performed in hypomelanosis of Ito patients with apparent bony abnormalities.
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Other Tests

  • Perform EEG in hypomelanosis of Ito patients with seizure disorders.
  • Perform electromyelography (EMG) in those with hypotonia.
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Histologic Findings

The number of melanocytes is decreased in hypomelanosis of Ito, and the amount of melanin in hypopigmented areas is decreased.

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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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