Home Print this page Email this page
Users Online: 341
Home About us Editorial board Search Ahead of print Current issue Archives Submit article Instructions Subscribe Contacts Login 

 Table of Contents  
Year : 2013  |  Volume : 2  |  Issue : 3  |  Page : 203-205

Hypomelanosis of Ito: A rare cutaneous syndrome

Department of Dermatology, MVJ Medical College and Research Hospital, Hoskote, Bangalore, India

Date of Web Publication25-Oct-2013

Correspondence Address:
Hari Kishan Yadalla Kumar
Department of Dermatology, Res: 70, Padma Nivasa, Skin Care Clinic, 3rd Cross MG Extension, HV Halli, Raja Rajeswari Nagar, Bangalore 560 098
Login to access the Email id

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2278-344X.120591

Rights and Permissions

Hypomelanosis of Ito, also known as Incontinentia Pigmenti Achromians of Ito (IPA), is a rare cutaneous syndrome clinically characterized by macular hypopigmented whorls, patches, and streaks either unilateral or bilateral following lines of Blaschko. These skin lesions become apparent at birth or during childhood and normally are present on the trunk, occasionally on the extremities, and rarely on the face. Most patients have multisystem involvement and may show chromosomal mosaicism, the most common being neurological, muscular, skeletal, and ocular. We present a male child of 5-years-old with hypopigmented whorls and patches along the lines of Blaschko present on both sides of the trunk since birth. The child had no other systemic abnormality. The importance of this cutaneous condition and its association with other system involvement has been emphasized in this article.

Keywords: Hypomelanosis of Ito, genetic, neurocutaneous syndrome

How to cite this article:
Kumar HY, Jayaprasad S. Hypomelanosis of Ito: A rare cutaneous syndrome . Int J Health Allied Sci 2013;2:203-5

How to cite this URL:
Kumar HY, Jayaprasad S. Hypomelanosis of Ito: A rare cutaneous syndrome . Int J Health Allied Sci [serial online] 2013 [cited 2023 Mar 29];2:203-5. Available from: https://www.ijhas.in/text.asp?2013/2/3/203/120591

  Introduction Top

Hypomelanosis of Ito is a rare genetic disorder, considered to be a neurocutaneous syndrome and characterized by streaky, patchy, whorl-like, or linear hypopigmented macules occurring on any part of the body. Palms, scalp, and soles of the feet are usually not affected. Swirling patterns around the trunk and linear patterns down the legs and arms are referred to as Blaschko's lines. [1] Lesions first appear as small 0.5-1 cm hypopigmented or white macules that merge to form larger patches. Macules cover more than two dermatomes and are often on both sides of the body. Patches are not symmetrical. Recent studies showed associated abnormalities occur in 30-50% of patients with cutaneous lesions. [1],[2] Thorough history-taking and physical examination with attention to neurological and ophthalmological findings are necessary to detect associated abnormalities.

  Case Report Top

A 5-year-old male child was referred from pediatric department for few asymptomatic hypopigmented lesions over the trunk bilaterally present since birth [Figure 1]. There was no family history or similar lesions in the other female sibling of 3-years-old. On cutaneous examination, there were multiple bizarre and well-defined and asymmetric hypopigmented macules seen in whorls and patches distributed over the sides of the trunk bilaterally along the Lines of Blaschko [Figure 2]. The lesions were increasing in size as the age increased. General physical examination of the patient revealed no other abnormality. The lesions appeared prominent under wood`s light examination. Routine investigations were within normal limits. There was systolic murmur in the mitral area; he was referred to the cardiologist for any abnormality, but had no cardiac anomalies. On thorough examination for any associated abnormalities, we found no other cutaneous, neurological, musculoskeletal, cardiac, ophthalmological, and any other rare associations. The child had normal intellectual functioning as of his peers at school. The patient underwent CT scan of brain, which did not reveal any abnormality. Blood karyotyping was not done due to logistical reasons. Biopsy of the skin lesions was not done as the parents denied.
Figure 1: A 5-years-old male child with bilateral hypopigmented lesions over the trunk present since birth

Click here to view
Figure 2: Close-up view showing multiple bizarre and well-defined asymmetric hypopigmented macules seen in whorls and patches distributed over the sides of the trunk bilaterally along the Lines of Blaschko

Click here to view

  Discussion Top

Hypomelanosis of Ito (HI) syndrome is characterized by the presence of whirled hypochromic skin lesions often associated with systemic manifestations. Ito first introduced the syndrome in 1951. [3] In 1967, Hamada et al. confirmed the association between the skin lesions and systemic abnormalities, including mental retardation. [4] Finally, Pascual-Castroviejo et al. delineated the full spectrum of associated neurological abnormalities in a systematic study of the largest series published. [5]

Incontinentia pigmenti (IP) achromians is another term for this syndrome; however, because no true IP (melanin absent in the epidermis and present in the dermis) is present in the skin specimens, hypomelanosis of Ito syndrome has become the preferred name.

Though most of the cases have been reported from Japan, HI has been reported from several other countries. [1] Most reported patients are less than 10-years-old, and sex ratio favored females by 2.5:1. [1]

Lately, there has been renewed interest in HI with the reports that many patients of HI have associated chromosomal mosaicism. An association between the pigmentary anomaly and chromosomal mosaicism, which is specific neither for a particular type of chromosomal aberration nor for HI, has been suggested. [2],[6] This association lends support to the hypothesis that the pattern of hypopigmentation in HI is the result of the migration of two clones of primordial melanocytes, each with a different pigment potential. [2],[7] A pattern reminiscent of Blaschko lines is formed when these 2 cell lines alternate in their arrangement along the length of the embryo, while different patterns will appear when this alternating arrangement of neural crest cells is not established.

Patients of HI have areas of hypopigmentation distributed over the body according to the Lines of Blaschko. [6] The first patient described by Ito did not appear to have any other abnormality except hypopigmentation. [3] Histopathological analysis of the hypopigmented areas on the skin demonstrated increased numbers of melanocytes and melanosomes in the basal layer of the epidermis. After that, several associated abnormalities have been described. [1],[2],[7],[8],[9],[10],[11]

Hair abnormalities may consist of variations in color and texture (pepper-and-salt coloring) and alopecia. Nail changes reported are ridging and occasional hypoplasia/aplasia. Hypodontia, adontia, spacing irregularities, and unusual dental cusps constitute the teeth abnormalities observed.

Eye abnormalities are frequently reported. These include microphthalmia, iris coloboma, heterochromia irides, and pinpoint pupils. Retinal pigmentary abnormalities with optic atrophy have also been observed.

Joint contractures, especially talipes, camptodactyly of fingers, asymmetric limbs and body parts are common. Other skeletal abnormalities include kyphoscoliosis, polydactyly, ectrodactyly, syndactyly, and triphalangeal thumbs.

Cardiac defects include ventricular septal defects; renal abnormalities comprise of unilateral renal agenesis and horseshoe kidneys. Genital defects consist of hypospadias and vaginal skin tags.

Epilepsy represents, along with mental retardation, the most common neurological complication in HI: Seizures were reported to occur in 11.5% to 50% of patients in the literature. Seizures commonly appear early within the first year of life. Mental relation is present and may vary from mild to severe and about 10% of patients show in addition autistic behavior. Mental retardation can be usually attributed to the underlying brain abnormalities or to severe seizure disorder. Other neurologic alterations found in HI are muscular hypotonic or, hyperkinesias, nystagmus, ataxia, and neurosensory deafness. Although there are no reported constant central nervous system lesions in HI, study showed more than 50% of patients had specific white matter abnormalities demonstrable by MRI. Other abnormalities revealed by CT and MRI in HI cases are localized or generalized cerebral, brainstem or cerebral ventricles, hemispheric asymmetry (both hemimegalencephaly and hemiatrophy), cerebella hyperplasia, agenesis or dysplasia of the corpus callosum, and arterovenous malformations. There is no consistent electroencephalogram (EEG) pattern in HI. The EEG can yield normal results or show a wide range of abnormalities. [12],[13]

Any condition with skin manifestations along Blaschko's lines may be confused with hypomelanosis of Ito. Incontinentia pigmenti is marked by preceding vesicular or verrucous phases. Goltz focal dermal hypoplasia along Blaschko's lines may cause confusion, but focal absence of dermis, multiple papillomas of mucous membranes, and linear hypo- and hyperpigmentation suggest the existence of pigmentary mosaicism. [1],[6]

No definite treatment for pigmentary disorders exists. Meticulous systemic examination should be carried out to detect additional abnormalities. Seizures should be managed with proper anti-epileptics. Orthopedic and physical therapy should be instituted as and when required. Even in our case, the child was thoroughly investigated with classical pigmentary cutaneous lesions of HI for any systemic association. The prognosis was explained to the parents as there were no other abnormalities and was advised for regular follow-up every six months.

  References Top

1.Sybert VI. Hypomelanosis of Ito. Pediatr Dermatol 1990;7:74-6.  Back to cited text no. 1
2.Thapa R. Pigmentary Mosaicism: An Update. Indian J Dermatol 2008;53:96-7.  Back to cited text no. 2
[PUBMED]  Medknow Journal  
3.Ito M. A singular case of naevus depigmentosus systematicus bilateralis. Jpn J Dermatol 1951;61:31-2.  Back to cited text no. 3
4.Hamada T, Saito T, Sugai T, Morita Y. Incontinentia pigmenti achromians (Ito). Arch Dermatol 1967;96:673-6.  Back to cited text no. 4
5.Pascual-Castroviejo I, Lopez-Rodriguez L, de la Cruz Medina M, Salamanca-Maesso C, Roche Herrero C. Hypomelanosis of Ito. Neurological complications in 34 cases. Can J Neurol Sci 1988;15:124-9.  Back to cited text no. 5
6.Sybert VP, Pagon RA, Donlan M, Bradley CM. Pigmentary abnormalities and mosaicism for chromosomal aberration: Association with clinical features similar to hypomelanosis of Ito. J Pediatr 1990;116:581-686.  Back to cited text no. 6
7.Thapa R, Dhar S, Malakar R, Chakrabartty S. Hypomelanosis of Ito-whorled hyperpigmentation combination: A mirror image presentation. Pediatr Dermatol 2007;24:572-3.  Back to cited text no. 7
8.Anstey AV. Disorders of Skin Colour. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook`s textbook of Dermatology. 8 th ed. New Jersey: Wiley-Blackwell; 2010. p. 58.1-59.  Back to cited text no. 8
9.Chethan CJ, Ashique KT, Sukumar D, Nanda Kishore B. Hypomelanosis of ITO. Indian J Dermatol 2006;51:65-6.  Back to cited text no. 9
  Medknow Journal  
10.Griebel V, Krageloh-mann I, Michaelis R. Hypomelanosis of Ito: Report of four cases and survey of the literature. Neuropediatrics 1989;20:234-7.  Back to cited text no. 10
11.Cellini A, Morroni M, Simonetti O, Offidani A. Hypomelanosis of Ito: A case report with clinical and ultrastructural data. J Eur Acad Dermatol Venereol 1998;10:73-6.  Back to cited text no. 11
12.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;31:9-16.  Back to cited text no. 12
13.Ruggieri M, Tigano G, Mazzone D, Tiné A, Pavone L. Involvement of the white matter in hypomelanosis of Ito (incontinentia pigmenti achromiens). Neurology 1996;46:485-92.  Back to cited text no. 13


  [Figure 1], [Figure 2]

This article has been cited by
1 An Infant with Congenital Cytomegalovirus Infection Presenting with Hypomelanosis of Ito
Sinduja Selvam,Amar Taksande,Amol Lohakare,Rewat Meshram
Journal of Evolution of Medical and Dental Sciences. 2020; 9(48): 3697
[Pubmed] | [DOI]


Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
 Related articles
Access Statistics
Email Alert *
Add to My List *
* Registration required (free)

  In this article
Case Report
Article Figures

 Article Access Statistics
    PDF Downloaded353    
    Comments [Add]    
    Cited by others 1    

Recommend this journal