Neuroichthyosis: the interplay between brain and skin.

IF 2.5 Q2 CLINICAL NEUROLOGY

PRACTICAL NEUROLOGY Pub Date : 2026-07-14 DOI:10.1136/pn-2025-004881

Julia de Oliveira Xavier Ramos, Pedro Fraiman, Thiago Yoshinaga Tonholo Silva, Rubens Paulo Araújo Salomão, José Luiz Pedroso, Orlando G P Barsottini

引用次数: 0

Abstract

The interplay between skin and neurological disorders is well recognised, given the shared embryological origin of both skin and nervous system cells from the ectoderm. Certain cutaneous manifestations may guide the neurological workup and contribute to a more accurate diagnosis. We report a 20-year-old man with drug-resistant epilepsy and developmental regression since childhood, who had characteristic skin findings compatible with ichthyosis. Despite the broad differential diagnosis for these neurological manifestations, recognising the skin involvement was important in guiding the genetic investigation, ultimately narrowing the diagnosis to the group of neuro-ichthyotic syndromes.

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神经性鱼鳞病：大脑和皮肤之间的相互作用。

鉴于皮肤和神经系统细胞来自外胚层的共同胚胎起源，皮肤和神经系统疾病之间的相互作用得到了很好的认识。某些皮肤表现可以指导神经系统检查，有助于更准确的诊断。我们报告一名20岁的男性患有耐药癫痫和自童年发育倒退，他的皮肤特征与鱼鳞病相符。尽管对这些神经系统表现有广泛的鉴别诊断，但识别皮肤受累对指导遗传调查很重要，最终将诊断范围缩小到神经-鱼鳞病综合征组。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

PRACTICAL NEUROLOGY Medicine-Neurology (clinical)

CiteScore

3.70

自引率

3.60%

发文量

113

期刊介绍： The essential point of Practical Neurology is that it is practical in the sense of being useful for everyone who sees neurological patients and who wants to keep up to date, and safe, in managing them. In other words this is a journal for jobbing neurologists - which most of us are for at least part of our time - who plough through the tension headaches and funny turns week in and week out. Primary research literature potentially relevant to routine clinical practice is far too much for any neurologist to read, let alone understand, critically appraise and assimilate. Therefore, if research is to influence clinical practice appropriately and quickly it has to be digested and provided to neurologists in an informative and convenient way.