RESUMO

OBJECTIVES: The authors report a case of hypomelanosis of Ito (HI), a rare neurocutaneous syndrome with neurological and chromosomal alterations associated with cutaneous involvement and recurrent pneumonia. CASE REPORT: A male patient, age 1 year and 11 months, was admitted with bilateral bronchopneumonia to the São Vicente de Paulo Hospital. Examination revealed hypochromic maculas on the skin, compatible with HI, and a delay in neuropsychomotor development. The patient was submitted to incisive biopsy of the abdominal skin lesions, electroencephalogram, magnetic resonance, and cytogenetic evaluation. RESULTS: Histology and immunohistochemistry evinced absence of melanin and reductio of melanocyte in focal areas of the epidermis. The electroencephalogram revealed diffuse cortico-subcortical dysfunction. Encephalic magnetic resonance imaging was compatible with arachnoid cyst in the temporal region. Karyotype showed chromosome mosaicism (46, XY) and interstitial deletion of bands 22.2 to 24.4 of the long arm of chromosome 10 (25%). CONCLUSIONS: Analysis of skin lesions is important for the etiologic definition of neuropediatric disorders.