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1997:63:1;65-66
PMID: 20944268

Hypomelanosis of Ito with rare neurological association

S Grover, K Dash, G Singh, V Venkateshwar, P Rodrigues
 Bangalore, India

Correspondence Address:
S Grover
Bangalore
India
How to cite this article:
Grover S, Dash K, Singh G, Venkateshwar V, Rodrigues P. Hypomelanosis of Ito with rare neurological association. Indian J Dermatol Venereol Leprol 1997;63:65-66
Copyright: (C)1997 Indian Journal of Dermatology, Venereology, and Leprology

To the Editor,

Hypomelanosis of Ito is a rare neurocutaneous syndrome consisting of bizarre, patterned, macular hypopigmentation over the body. Associated defects occur in the musculo-skeletal system, CNS, eyes, teeth etc.[1] We report a case of hypomelanosis of Ito with a rare neurological association and other dental and ophthalmological abnormalities.

A 7-year-old boy presented with hypopigmented lesions over trunk, both upper limbs and both lower limbs since birth. All his developmental milestones were delayed and he was able to walk at the age of 5 years. He also had speech and learning disorder. There was no history of seizures, vesiculobullous skin lesions or weakness of limbs. The boy was a full term normal delivery, the second sibling of a non-consanguineous marriage and with no history of birth trauma. The first sibling, 10-year-old boy, was normal.

General physical examination revealed height 108cms, weight 18kgs, incoherent speech, small ears and left undescended testis. Dermatological examination revealed bizarre hypopigmeted linear streaks bilaterally over the trunk and limbs following Blaschko′s lines and a cafe-au-lait macule on the chin. Hair, nails, palms, soles and mucosae were normal. ophthalmological examination revealed epicanthic folds and nystagmus of both eyes. Dental examination showed dental caries, peg shaped upper lateral incisors and abnormal enamel of primary dentition. Other systems were normal.

CT scan of head revealed agenesis of corpus callosum with absence of probst fibres. IQ was 45 (moderate mental retardation) and USG abdomen confirmed left undescended testis anterior to urinary bladdor. X-ray chest, skull and wrist, urine for mucopolysaccharides and chromosomal studies were all normal.

Based on the existing diagnostic criteria, a definitive diagnosis of hypomelanosis of Ito was made.[2] A multitude of associations have been reported in literature. [3,4] The interesting features in our case were (a) mental retardation with no history of seizures, (b) delayed milestones, (c) ophthalmic and dental abnormalities, (d) agenesis of corpus callosum, not yet reported in literature to the best of our knowledge.

References
1.
Nieto BM, Tort MT, Rodrigues CT. Neurological aspects of Ito's hypomelanosis. An Esp pediatr 1988;28:311-4.
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2.
Ruiz MR, Toussaint S, Tamayo L, et al. Hypomelanosis of Ito : diagnostic criteria and report of 41 cases. Pediatr Dermatol 1992;9:1-10
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3.
Pascual-Castroviejo I, Lopez Rodrigues L, de-la-Cruz-Medina M. Hypomelanosis of Ito : neurological complications in 34 cases. Can J Neurol Sci 1988;15:124-9.
[Google Scholar]
4.
Peserico A, Battistella PA, Bertoli P, et al. Unilateral hypomelanosis of Ito with hemimegalencephaly. Acta Pediatr Scand 1988;77:446-7.
[Google Scholar]
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