Dermatology Department, Alejandro Posadas National Hospital, Buenos Aires, Argentina.
J Dermatol. 2011 Feb;38(2):125-30. doi: 10.1111/j.1346-8138.2010.00972.x. Epub 2010 Sep 6.
Skin lesions can often be the only sign of an underlying systemic abnormality which will require further investigation. Several syndromic conditions are diagnosed after their cutaneous marker, which is in most cases a nevus. We report a neurocutaneous condition which we named "syndromic nevoid hypermelanosis" (SNH). We studied seven patients who presented with hyperpigmented disseminated macules (melanotic or pigmented nevi) as a cardinal sign. Neurological abnormalities were detected in all cases and skeletal dysmorphism in four. In spite of the genetic alteration that may be the cause of this disease, dermatologists should be able to diagnose it based on its semiological features and distinguish it from other neurocutaneous conditions. We consider SNH to be a distinct clinical entity that has not been clearly defined until now.
皮肤损害往往是潜在全身性异常的唯一征象，需要进一步检查。有几种综合征是在其皮肤标志物（大多数情况下是痣）出现后诊断出来的。我们报告了一种神经皮肤疾病，我们称之为“综合征性神经黑色素沉着过度症”（SNH）。我们研究了 7 名患者，他们表现为弥漫性色素沉着斑（黑色素或色素痣），这是主要征象。所有病例均发现神经异常，4 例有骨骼发育不良。尽管遗传改变可能是导致这种疾病的原因，但皮肤科医生应该能够根据其症状学特征进行诊断，并将其与其他神经皮肤疾病区分开来。我们认为 SNH 是一种明确的临床实体，直到现在还没有明确界定。
