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Hypomelanosis of Ito

  • Author: Manuel Valdebran, MD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Apr 18, 2016
 

Background

Hypomelanosis of Ito is a pigmentary mosaicism characterized by hypopigmentation in the forms of streaks and whorls running along the lines of Blaschko. This condition is seen as an isolated cutaneous finding or associated with musculoskeletal and neurological conditions. Ophthalmic, hair, and dental abnormalities have also been described.[1, 2] See the image below.

Hypomelanosis of Ito on the torso. Hypomelanosis of Ito on the torso.

 

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Pathophysiology

The affected areas seen in hypomelanosis of Ito result from a clone of skin cells with reduced capacity to produce pigment. Structural or numerical chromosomal aberrations present in these clones of cells have been linked with this entity. Around 90% of these chromosomal aberrations are present in the locations of genes involved in pigmentation.[3] Associations of different numerical chromosomal disorders can be found in the literature, such as trisomy of chromosome 2, 13,14, 18, or 20 mosaicisms.[4, 5]

Extracutaneous manifestations might be due to the presence of different genetic defects.

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Epidemiology

Frequency

Hypomelanosis of Ito is rare.

Race

No clear racial predilection is reported for hypomelanosis of Ito.

Sex

Hypomelanosis of Ito is 1.5-2.5 times more common in women than in men.

Age

Hypomelanosis of Ito is present at birth, and patients usually undergo examination in their first or second years of life. Approximately 75% of patients with hypomelanosis of Ito seek care by the time they are aged 2 years. One fourth of patients seek care after they are aged 2 years, before they are aged 5 years. Skin lesions may become pigmented over time and blend well with normally pigmented skin.

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Prognosis

The prognosis is determined by the associated abnormalities. The prognosis is excellent for the cutaneous findings. Death is rare. Morbidity depends on severity of the associated abnormality such as seizures.

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Patient Education

Genetic counseling may be recommended. However, the risk of hypomelanosis of Ito transmission is considered low, except when X-linked mutations are present in female patients.

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Contributor Information and Disclosures
Author

Manuel Valdebran, MD Visiting Dermatopathology Fellow, University of California, San Francisco, School of Medicine

Manuel Valdebran, MD is a member of the following medical societies: International Dermoscopy Society, Medical Dermatology Society, Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

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

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

Disclosure: Nothing to disclose.

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

Christen M Mowad, MD is a member of the following medical societies: Alpha Omega Alpha, Noah Worcester Dermatological Society, Pennsylvania Academy of Dermatology, American Academy of Dermatology, Phi Beta Kappa

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

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

Disclosure: Nothing to disclose.

Additional Contributors

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

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

Disclosure: Nothing to disclose.

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 Academy of Dermatology

Disclosure: Nothing to disclose.

References
  1. Pavone V, Signorelli SS, Praticò AD, Corsello G, Savasta S, Falsaperla R, et al. Total Hemi-overgrowth in Pigmentary Mosaicism of the (Hypomelanosis of) Ito Type: Eight Case Reports. Am J Med Genet. 2016 Mar. 95:e2705. [Medline].

  2. Küster W, König A. Hypomelanosis of Ito: no entity, but a cutaneous sign of mosaicism. Am J Med Genet. 1999 Aug. 85:346-50. [Medline].

  3. Molho-Pessach V, Schaffer JV. Blaschko lines and other patterns of cutaneous mosaicism. Clin Dermatol. 2011 Mar-Apr. 29:205-225. [Medline].

  4. Ponti G, Pellacani G, Tomasi A, Percesepe A, Guarneri C, Guerra A, et al. Hypomelanosis of Ito with a trisomy 2 mosaicism: a case report. J Med Case Rep. 2014 Oct. 9:333. [Medline].

  5. Girard C, Guillot B, Rivier F, Dalla Vale F, Bessis D. Trisomy 20 mosaicism revealed by pigmentary mosaicism of the Ito-type. Ann Dermatol Venereol. 2005 Feb. 132:151-3. [Medline].

  6. 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. 2010 Feb. 31(1):9-16. [Medline].

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

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

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

  10. Calonje E, Brenn T, Lazar AJ, McKee PH. Disorders of Pigmentation. Elsevier/Saunders. McKee's Pathology of the Skin: With Clinical Correlations. 4th ed. Philadelphia, Pa: Elsevier Saunders; 2011. 912.

  11. Online Mendelian Inheritance in Man (OMIM). HYPOMELANOSIS OF ITO; HMI. Available at http://omim.org/entry/300337. Accessed: August 11, 2014.

 
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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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