The Cowden syndrome: a clinical and genetic study in 21 patients
The Cowden syndrome: a clinical and genetic study in 21 patients
复制标题
Cowden 综合征：21 名患者的临床和遗传学研究
作者：
T. Starink;J. Veen;F. Arwert;L. Waal;G. G. Lange;J. Gille;A. Eriksson
对21例考登综合征或多发性错构瘤综合征患者的诊断结果进行了分析。考登综合征是一种与癌症相关的遗传性皮肤病，具有特征性的皮肤粘膜表现和广泛的相关异常，包括女性患者中乳腺癌的高发病率。遗传学研究证实，常染色体显性遗传在两性中都具有高外显性，一些症状的表现率在家庭间和家庭内存在中度差异。7个家系中有4个家系有家族史。女性患者占多数(6：1)，这可能是偶然的。黏膜皮肤改变是最恒定的(100%发生率)和最具特征性的发现；它们几乎总是在第二个十年变得明显。我们的18名女性患者中有4名(22%)接受了乳腺癌治疗，发病率低于之前报道的水平。没有发现其他类型恶性肿瘤的发病率增加。颅骨肥大(高头围)是最常见的皮外表现(80%)；颅骨肥大是一个重要的早期标志。我们还发现胃肠道息肉(约60%)和皮肤纤维瘤(76%)的发生率很高，而甲状腺异常的发生率(迄今被认为是最常见的皮外发现)与先前报道的(62%)相似。G显带核型和初步DNA修复研究显示没有明显的异常。未发现与人类白细胞抗原基因座连锁和免疫球蛋白单倍型。
An analysis of the findings in 21 patients with the Cowden syndrome or the multiple hamartoma syndrome is presented. The Cowden syndrome is a cancer‐associated genodermatosis with characteristic mucocutaneous findings and a wide array of associated abnormalities including a high incidence of breast cancer in female patients. Genetic studies confirmed autosomal dominant inheritance with a high penetrance in both sexes and moderate interfamilial and intrafamilial differences in the expressivity of a number of symptoms. Familial occurrence was present in 4 of the 7 families. There was a strong predominance of female patients (6:1), which may be fortuitous. Mucocutaneous changes were the most constant (100% incidence) and characteristic findings; they almost invariably became manifest in the second decade. Four of our 18 female patients (22%) were treated for breast cancer, a lower incidence than reported previously. No increased incidence of other types of malignancies was found. Craniomegaly (high head circumference) was found to be the most common extracutaneous manifestation (80% incidence); craniomegaly appears to be an important early marker. We also found high incidences of gastrointestinal polyps (approximately 60%) and cutaneous fibromas (76%), while the incidence of thyroid abnormalities, thus far regarded as the most common extracutaneous finding, was similar to that reported previously (62%). G‐banded karyotype and preliminary DNA‐repair studies revealed no clear abnormalities. No linkage with the loci of HLA, and immunoglobulin haplotypes was found.
考登氏病。
影响因子：
13.7
作者：
Bardenstein,DS;McLean,IW;Nerney,J;Boatwright,RS
通讯作者：
Boatwright,RS