Hypomelanosis of Ito is a neurocutaneous syndrome characterized by hypopigmented lesions occurring in streaks and whorls located on the trunk, head or extremities. Associated abnormalities occur in musculo-skeletal system, CNS, eyes, teeth etc. we report a case of hypomelanosis of Ito with rare association of alternate convergent squint and microcephaly.
Hypomelanosis of Ito, also known as Incontinentia Pigmenti Achromians (IPA), is a rare neurocutaneous syndrome clinically characterized by macular hypopigmented whorls, patches and streaks resembling fountain spray splatters . Associated abnormalities are thought to occur in 30-50% of patients with cutaneous lesions and includes defects in the musculo-skeletal system, CNS, eyes, teeth etc. We report a case of hypomelanosis of Ito with rare systemic associations.
A 9-year-old girl presented with hypopigmented lesions over trunk, both upper limbs and both lower limbs of 6years duration. It was insidious in onset. Initially it was noted as small hypopigmented lesion over back which gradually increased in a linear fashion to involve all parts of the body. No history of itching. All her developmental milestones were normal. There was no history of seizures, vesiculobullous skin lesions or weakness of limbs. The girl was a full term normal delivery, the first child of a non-consanguineous marriage and with no history of birth trauma. The second sibling, 6-year-old boy, was normal.
General physical examination revealed normal milestones except for borderline mental retardation and microcephaly with head circumference of 46.5cms (expected 50cms). Dermatological examination revealed bizarre hypopigmeted linear streaks bilaterally over the trunk giving a fountain spray splatters [Illustration 1] and similar linear lesions along the limbs following Blaschko's lines [Illustration 2]. Hair, nails, palms, soles and mucosae were normal. Ophthalmological examination revealed alternate convergent squint of 300. Slit lamp and fundoscopic examination were normal. Other systems were normal. Radiological examination of the spine, CT scan of head, echocardiography and ultrasonography of abdomen was normal.
Hypomelanosis of Ito is a neurocutaneous disorder characterized by a bizarre, bilateral, irregularly shaped leukoderma affecting the trunk and extremities and often associated with neurologic and musculoskeletal abnormalities. It is diagnosed in 1 per 8000-10000 unselected patients in general paediatric outpatient clinic and 1 out of every 790 in a paediatric dermatology clinic .
Though originally described as a purely cutaneous disease subsequent reports have included 33% to 94% association with multiple extracutaneous manifestations mostly of the central nervous and musculoskeletal systems leading to frequent characterization as a neurocutaneous disorder . The hypomelanotic macules of Hypomelanosis of Ito are usually present at birth but may appear in early infancy or childhood. Eye abnormalities include microphthalmia, iris coloboma, heterochromia irides, pinpoint pupils and retinal pigmentary abnormalities . Alternate convergent squint and microcephaly, the two unusual association were noted in this case. This case is present for rare presentation of the condition with unusual associations.
1. Sybert VI. Hypomelanosis of Ito. Pediatr Dermatol 1990; 7:74-76.
2. Patel AB, Renge RL. Hypomelanosis of Ito. Indian Pediatr.2000; 37: 1386.
3. Ruggieri M, Pavone L. Hypomelanosis of Ito: Clinical syndrome or just Phenotypez. J. Child Neurol, 2000;15:635-44.
4. Donnai D, Read AP, McKeown C, Andrews T. Hypomelanosis of Ito: A manifestation of mosaicism or chimerism. J Med Genet 1988;25:809-18.
Source(s) of Funding
No comflict of interest
This article has been downloaded from WebmedCentral. With our unique author driven post publication peer
review, contents posted on this web portal do not undergo any prepublication peer or editorial review. It is
completely the responsibility of the authors to ensure not only scientific and ethical standards of the manuscript
but also its grammatical accuracy. Authors must ensure that they obtain all the necessary permissions before
submitting any information that requires obtaining a consent or approval from a third party. Authors should also
ensure not to submit any information which they do not have the copyright of or of which they have transferred
the copyrights to a third party.
Contents on WebmedCentral are purely for biomedical researchers and scientists. They are not meant to cater to
the needs of an individual patient. The web portal or any content(s) therein is neither designed to support, nor
replace, the relationship that exists between a patient/site visitor and his/her physician. Your use of the
WebmedCentral site and its contents is entirely at your own risk. We do not take any responsibility for any harm
that you may suffer or inflict on a third person by following the contents of this website.