Happle Rudolf
Department of Dermatology, Philipp University of Marburg, Deutschhaus-Str. 9, 35033 Marburg, Germany.
Eur J Dermatol. 2007 Mar-Apr;17(2):133-6. doi: 10.1684/ejd.2007.0125. Epub 2007 Mar 2.
Within the group of epidermal nevi, a so far nameless disorder is described under the term "linear Cowden nevus". This non-organoid epidermal nevus is caused by loss of heterozygosity, occurring at an early developmental stage in an embryo with a germline PTEN mutation, giving rise to Cowden disease. Hence, linear Cowden nevus can be categorized as a characteristic feature of type 2 segmental Cowden disease. Until now, several authors had mistaken this epidermal nevus as a manifestation of Proteus syndrome. The concept of linear Cowden nevus implies that Proteus syndrome is by no means caused by PTEN mutations. As a clinical difference, linear Cowden nevus is markedly papillomatous and thick, whereas linear Proteus nevus tends to be rather flat. Moreover, the spectrum of possibly associated cutaneous or extracutaneous anomalies differs in the two types of nevi. In conclusion, linear Cowden nevus, that may also be called "linear PTEN nevus", represents a distinct clinicogenetic entity.
在表皮痣组中，有一种迄今为止尚无名称的疾病被称为“线状考登痣”。这种非器官样表皮痣是由杂合性缺失引起的，发生在具有种系PTEN突变的胚胎的早期发育阶段，进而引发考登病。因此，线状考登痣可归类为2型节段性考登病的一个特征性表现。到目前为止，几位作者曾将这种表皮痣误认为是变形综合征的一种表现。线状考登痣的概念意味着变形综合征绝不是由PTEN突变引起的。作为临床差异，线状考登痣明显呈乳头状且增厚，而线状变形痣往往较为扁平。此外，两种类型的痣可能相关的皮肤或皮肤外异常谱也有所不同。总之，线状考登痣，也可称为“线状PTEN痣”，代表一种独特的临床遗传实体。
