Hipomelanose de Ito - relato de um caso
Hipomelanose de Ito - relato de um caso
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伊藤海马黑糖 - 与 um caso 相关
DOI：
10.1590/s0021-75572001000100016
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发表时间：
2001
影响因子：
3.3
通讯作者：
L. C. Rosa
中科院分区：
文献类型：
--
作者：
A. S. Almeida;W. E. Cechin;J. Ferraz;Rubens Rodriguez;A. Moro;R. Jorge;L. C. Rosa
目的：作者报道了一例伊藤黑色素沉着症(HI)，这是一种罕见的神经皮肤综合征，伴有神经和染色体改变，与皮肤受累和反复肺炎相关。病例报告：这是一名1岁零11个月大的男性患者，在圣保罗医院因双侧支气管肺炎住院。对患者进行检查，观察到皮肤中有与HI相容的色斑，神经精神运动发育延迟。患者接受了腹部皮肤病变的切开活检、脑电、磁共振和细胞遗传学评估。结果：组织学和免疫组织化学检查分别显示表皮局部区域黑色素缺失和黑素细胞减少。脑电图显示弥漫性皮质-皮质下功能障碍。脑部磁共振成像与蛛网膜下腔囊肿在颞区的表现相吻合。Caritipo表现为染色体镶嵌，具有正常谱系(46，XY)和细胞谱系，显示10号染色体臂的22.2-24.2条带(25%)的间质缺失。结论：在本研究中，作者强调了皮肤损害在神经儿科疾病病因学定义中的重要性。
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 Sao 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.