Journal of the Pediatrics Association of India

: 2020  |  Volume : 9  |  Issue : 1  |  Page : 43--45

Hypomelanosis of ito

Jonaki Pal, Atanu Roy, Asok Kumar Datta 
 Department of Pediatric Medicine, Burdwan Medical College and Hospital, Bardhaman, West Bengal, India

Correspondence Address:
Dr. Atanu Roy
Department of Pediatric Medicine, Burdwan Medical College and Hospital, Bardhaman, West Bengal


A 1-year-old child presented with generalized tonic–clonic convulsion and delayed developmental milestones. Hypopigmented streaks were noted on the right side of the body that ended abruptly in the midline. Magnetic resonance imaging of the brain shows paucity of sulci in both parietal areas and the right-sided cerebral hemisphere larger than the left. The child is clinically diagnosed with a case of hypomelanosis of ito.

How to cite this article:
Pal J, Roy A, Datta AK. Hypomelanosis of ito.J Pediatr Assoc India 2020;9:43-45

How to cite this URL:
Pal J, Roy A, Datta AK. Hypomelanosis of ito. J Pediatr Assoc India [serial online] 2020 [cited 2021 Apr 14 ];9:43-45
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Hypomelanosis of ito, a neurocutaneous syndrome characterized by pigmentary mosaicism was first described by Ito in 1952.[1] There are bizzare patterned hypopigmented serpiginous lines that follow the lines of Blaschko involving only one side of the body.[2],[3] The degree of depigmentation varies from hypopigmented to achromic and is not associated with inflammatory or vesicular lesions.[4] The most commonly associated abnormalities involve the nervous system.[5]

 Case Report

A 1-year-old male child born out of nonconsanguineous marriage of healthy parents presented with marbled hypopigmented streaks on the right side of the body extending from the neck to buttocks with involvement of right upper and lower limbs.

The hypopigmented streaks appeared in a pattern of concentric whorls over the trunk which ended abruptly in the midline anteriorly and fell slightly short of the midline posteriorly. Similar patterns were noted in the right-sided limbs. Movement of left-sided limbs was less with associated muscular atrophy.

The child was born by the lower uterine segment cesarean section following an uneventful pregnancy and cried immediately after birth. No medications were taken during the first trimester of pregnancy except folic acid. The hypopigmented patches were noted immediately but no intervention was done [Figure 1]a, [Figure 2].{Figure 1}

At 3 months of age, the mother noticed unequal growth of both sides of the body wherein the right-sided limbs appeared more in girth as compared to the left side, and she sought medical attention. On examination, no neurological deficit was found. The child eventually developed generalized tonic–clonic convulsion from 9 months of age. There were two episodes of unprovoked seizures which were gradually controlled with weight appropriate dose titration of Phenytoin. Associated with these, the child has mild left convergent squint. All along the developmental milestones of the child have been significantly delayed.

The child on anthropometric measurements was revealed to have macrocephaly and atrophy of the left side of the body. With a weight of 9 kg and height of 73 cm at 1 year, the child falls at 50th percentile in the WHO weight for length growth chart. The head circumference is 49 cm which is above 98th percentile for age. Mid upper arm circumference of the left arm was 14 cm while that of right arm was 16 cm. The circumference of the thigh taken 9 cm above tibial tuberosity was 22 cm on the left and 23 cm on the right. The circumference of the leg taken 4 cm above medial malleolus was 15.5 cm on the left and 16.5 cm on the right.

On CNS examination, no abnormal movements were noticed in either limb. The left-sided limbs were hypotonic compared to the right. There was generalized muscle wasting of the left upper and lower limbs, but power grade was 5/5 in all four limbs. Knee jerk, ankle jerk, biceps jerk, triceps jerk, and supinator jerk were bilaterally symmetrical and within the normal limits. Abdominal and cremasteric reflexes were symmetrical. Plantar reflex was bilaterally flexor. Cardiovascular, gastrointestinal, and respiratory system examinations were found to be within the normal limits.

On investigation, liver function tests, renal function tests, serum electrolytes, and complete blood count with peripheral blood picture were normal. The child was also screened for 17-hydroxyprogesterone, cystic fibrosis, galactosemia, phenylalanine hydroxylase, G6PD and T3, T4, thyroid-stimulating hormone, and no abnormalities were found. Karyotyping showed 44XY. Further genetic screening could not be done due to unavailability of facility. Magnetic resonance imaging (MRI) of the brain showed broad gyri with paucity of sulcation at both parietal areas. The right-sided cerebral hemisphere was larger in size compared to the left, which was confirmed by repeated MRI to rule out the possibility of an oblique section during the procedure possibly because of movement of the child. Electroencephalogram showed 4–5 Hz waves, sometimes associated with spikes and sharp waves in irregular complexes with low voltage over the right cerebral hemisphere posterior dominant activity.

Ophthalmological examination showed good bilateral fixation. Vertical palpebral aperture was more in the left eye with scleral show. There was intermittent left convergent squint with hypotropia. Fundoscopy showed the optic disc and vessels to be normal.

Wood lamp examination of the hypopigmented patches revealed accentuation of areas.


Therapy was symptomatic and organ specific.


Hypomelanosis of ito is a neurocutaneous syndrome in which there are hypopigmented streaks along the lines of Blaschko which represent the embryonic migratory path of neural crest derived melanocyte precursors from their origin along the dorsal neural tube to the epidermis.[6] These lines do not represent vascular, neural, or lymphatic structures. First described by Dr. Alfred Blaschko in 1901, Blaschko's lines follow V-shape over the upper spine, S-shape over the abdomen, an inverted V-shape from breast to the upper arm and perpendicular lines up and down the arms and legs. They also appear in the head and neck in a less well-defined manner.

Hypomelanosis of ito is descriptive rather than a definitive diagnosis. It is a mosaic skin condition with multisystem involvement which is variable, except in the skin. It is interpreted as a negative image of incontinentia pigmenti, hence termed as incontinentia pigmenti achromians.

The most common associated abnormalities involve the nervous system including intellectual disability (70%), seizures (40%), microcephaly (25%), and muscle hypotonia (15%). The musculoskeletal system is the second most commonly involved system. Minor ophthalmologic defects are present in 25% of patients and 10% have cardiac defects.[2]

It is not known to be an inherited disorder. Rather, it is sporadic and thought to be due to chromosomal mosaicism.

The convulsions in our child had been controlled with anticonvulsants and are under follow-up for the last 9 months.


The patient had been clinically diagnosed with a case of hypomelanosis of ito with associated neurological abnormalities. The typical clinical pattern is noteworthy.

Author's contribution

JP was responsible for patient care, follow-up, and drafting of paper. KI helped JP to prepare manuscript. AR helped in the management of the patient. Overall guidance and expert opinion were given by AKD.


Written informed consent was obtained from the patient for publication of this case report and accompanying images.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.


We acknowledge the Department of Pediatric Medicine and MSVP of Burdwan Medical College and Hospital for allowing us to publish this paper.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.


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2Joyce JC. Hypopigmented Lesions. Nelson Textbook of Pediatrics. 21st ed. 2019.
3Taibjee SM, Bennett DC, Moss C. Abnormal pigmentation in hypomelanosis of Ito and pigmentary mosaicism: The role of pigmentary genes. Br J Dermatol 2004;151:269-82.
4Ghosh S. Bedside Clinics in Pediatrics. 5th ed. 2016.
5Kentab AY, Hassan HH, Hamad MH, Alhumidi A. The neurologic aspects of hypomelanosis of Ito: Case report and review of the literature. Sudan J Paediatr 2014;14:61-70.
6Bolognia JL, Jorizzo JL, Rapini RP. Genodermatoses: Mosaicism and Linear Lesions. Dermatology. 2nd ed. 2008.