eMedicine Specialties > Dermatology > Diseases of Pigmentation

Hypomelanosis of Ito: Differential Diagnoses & Workup

Author: John Ratz, MD, MBA, Staff Dermatologist, Mohs Surgeon, Center for Dermatology and Skin Surgery, Inc
Coauthor(s): Ned Gross, MD, President, Piedmont Dermatology Center, PC
Contributor Information and Disclosures

Updated: Aug 31, 2009

Differential Diagnoses

Other Problems to Be Considered

Fourth stage of incontinentia pigmenti
Linear and whorled nevoid hypermelanosis
Nevus depigmentus

Workup

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.

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.

Other Tests

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

Histologic Findings

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

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
Multimedia: Hypomelanosis of Ito
References
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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]. 2000;Available at: http://w3.ncbi.nlm.nih.gov/Omim/. [Full Text].

  4. 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].

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

  6. 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].

  7. 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].

  8. 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].

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

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

  11. 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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Further Reading

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Keywords

hypomelanosis of Ito, HI, incontinentia pigmenti achromians, hypopigmented whorls of skin along Blaschko lines

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Contributor Information and Disclosures

Author

John Ratz, MD, MBA, Staff Dermatologist, Mohs Surgeon, Center for Dermatology and Skin Surgery, Inc
John Ratz, MD, MBA 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.

Medical Editor

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.

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
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.

Managing Editor

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.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine 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, 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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