epidermal nevi

表皮痣
  • 文章类型: Journal Article
    表皮痣是常见的良性皮肤错构瘤,很少有表皮角化过度(EHK)的组织病理学证据。代表致病性角蛋白变体的皮肤镶嵌性。很少,具有线性表皮痣的个体将EHK的遗传形式传递给他们的孩子,也被称为表皮性鱼鳞病,以全身性红斑为特征,起泡,出生时的鳞屑演变成广泛的角化过度。我们提供了有关EHK表现出表皮性鱼鳞病传播的线性表皮痣病例的最新综述,以指导表皮痣患者护理的重要考虑因素。线性表皮痣的临床特征不能可靠地预测EHK的存在。所有报告的传播给后代的病例都发生在涉及一个以上解剖区域的线性表皮痣的个体中,这表明涉及两个或多个解剖部位的生殖风险增加。因此,对于这些经活检证实的EHK患者,建议进行遗传学咨询.对于表皮痣受累面积较小的个体,其含义鲜为人知,尽管对于那些有兴趣进一步讨论一般生殖风险的人,仍可能考虑遗传学咨询。
    Epidermal nevi are common benign cutaneous hamartomas that may rarely demonstrate histopathologic evidence of epidermolytic hyperkeratosis (EHK), representing cutaneous mosaicism for pathogenic keratin variants. Rarely, individuals with linear epidermal nevi transmit to their children the inherited form of EHK, also known as epidermolytic ichthyosis, characterized by generalized erythema, blistering, and scaling at birth evolving to widespread hyperkeratosis. We present an updated review of reported cases of linear epidermal nevi with EHK exhibiting transmission of epidermolytic ichthyosis to guide important considerations in the care of individuals with epidermal nevi. Clinical characteristics of linear epidermal nevi do not reliably predict the presence of EHK. All reported cases of transmission to offspring have occurred in individuals with linear epidermal nevi involving more than one anatomic area suggesting increased reproductive risk with involvement of two or more anatomic sites. Therefore, genetics consultation is recommended for these individuals with biopsy-confirmed EHK. For individuals with smaller areas of epidermal nevus involvement, the implications are less well known, though genetics consultation may still be considered for those interested in further discussion of general reproductive risk.
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  • 文章类型: Journal Article
    CLOVES综合征是一种新型的偶发性马赛克节段过度生长综合征,目前归类为PROS(PIK3CA相关的过度生长谱)疾病的冠层。所有PROS疾病都有涉及PIK3CA基因的杂合后激活体细胞突变。作为PI3K/AKT/mTOR信号转导通路的上游调控因子,PIK3CA基因的激活突变开始于皮肤的不受控制的生长,血管(毛细血管,静脉,和淋巴管),脂肪,神经,和肌肉骨骼组织。过度增长是分段的,零散的,不对称,局限于受突变影响的身体部位。术语“CLOVES”是一个缩写词,表示先天性脂肪瘤过度生长,血管畸形,表皮痣和脊柱(脊柱侧凸)和/或骨骼异常。该综合征的特征是杂草丛生的组织,主要来源于中胚层和神经外胚层。在PROS障碍中,CLOVES综合征代表了频谱的极端,几乎整个身体都受到了巨大的影响。该综合征可以用阻碍PI3K/AKT/mTOR信号转导途径的药物治疗。本文旨在综述CLOVES综合征的皮肤和肌肉骨骼表现,作为PROS障碍的范例。CLOVES综合征和其他PROS疾病仍然被误诊,诊断不足,少报,皮肤科治疗不足。
    CLOVES syndrome is a novel sporadic mosaic segmental overgrowth syndrome, currently categorized under the canopy of PROS (PIK3CA-related overgrowth spectrum) disorders. All PROS disorders harbor heterozygous postzygotic activating somatic mutations involving the PIK3CA gene. As an upstream regulator of the PI3K/AKT/mTOR signal transduction pathway, activating mutations of PIK3CA gene commence in uncontrolled growth of cutaneous, vascular (capillaries, veins, and lymphatics), adipose, neural, and musculoskeletal tissues. The excessive growth is segmental, patchy, asymmetric, and confined to body parts affected by the mutation. The term \'CLOVES\' is an acronym denoting congenital lipomatous overgrowth, vascular malformations, epidermal nevi and spinal (scoliosis) and/ or skeletal anomalies. The syndrome is characterized by an admixture of overgrown tissues, derived mainly from mesoderm and neuroectoderm. Among PROS disorders, CLOVES syndrome represents the extreme end of the spectrum with massive affection of almost the entire body. The syndrome might judiciously be treated with medications hampering with the PI3K/AKT/mTOR signal transduction pathway. This article aims at reviewing the cutaneous and musculoskeletal manifestations of CLOVES syndrome, as the paradigm for PROS disorders. CLOVES syndrome and other PROS disorders are still misdiagnosed, underdiagnosed, underreported, and undertreated by the dermatology community.
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