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vol.77 issue1Anhidrotic ectodermal dysplasia syndrome in the neonatal period - case report author indexsubject indexarticles search
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Jornal de Pediatria

Print version ISSN 0021-7557


ALMEIDA, Adriana S. de et al. Hypomelanosis of Ito: Report of a case. J. Pediatr. (Rio J.) [online]. 2001, vol.77, n.1, pp.59-62. ISSN 0021-7557.

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: This is the case of a male patient, 1 year and 11 months old, hospitalized with bilateral bronchopneumonia at the São Vicente de Paulo Hospital. Examining the patient, hypochromic maculas in the skin, compatible with HI, and a delay in the neuropsychomotor development were observed. The patient was submitted to incisive biopsy of the skin lesions of the abdomen, electroencephalogram, magnetic resonance and cytogenetic evaluation. Results: The histologic and immunohistochemistry exams evinced melanin absence and melanocyte reduction in focal areas of the epidermis, respectively. The electroencephalogram revealed diffuse cortico-subcortical disfunction. The encephalon magnetic resonance imaging was compatible with arachnoid cyst in the temporal region. The cariotipo evinced chromosome mosaic with a normal lineage (46,XY) and a cellular lineage revealing interstitial deletion in the 22.2 - 24.2 bands of the arm of chromosome 10 (25%). Conclusions: With the present study, the authors emphasize the importance of skin lesions in the etiologic definition of neuropediatric disorders.

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