Autosomal dominant cutis laxa (ADCL, OMIM #123700) is a rare connective tissue disorder characterized by loose, redundant skin folds that may be apparent form birth or appear later in life. Most severely affected areas are the neck, axillar regions, trunk, and groin. Typically, patients present with characteristic facial features including a premature aged appearance, long philtrum, a high forehead, large ears, and a beaked nose. Cardiovascular and pulmonary complications include bicuspid aortic valves, aortic root dilatation, and emphysema. Sporadically, these complications have been documented to cause premature death. Several rare findings including urogenital anomalies and gastroesophageal problems can be also occur. Most patients harbor a frameshift mutation in one of the five last exons of the ELN gene (ADCL1, OMIM #123700), whereas one patient was described to have a tandem duplication in the FBLN5 gene (ADCL2, OMIM #614434). Here, we present a female ADCL patient, from a consanguineous family, with a novel mutation in ELN and review 39 previously reported ADCL patients. All patients have various skin findings, whereas cardiovascular, pulmonary findings, and multiple hernia were present in 61, 28, and 38% of patients, respectively. Strabismus, urogenital anomalies, gastroesophageal problems, and scoliosis may rarely be present. A clear definition of the ADCL syndrome can enable more accurate genetic counseling.

中文翻译：

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一个近亲家庭常染色体显性皮肤角质疏松的新病例：报告和文献复习。

常染色体显性优势皮肤松弛症（ADCL，OMIM＃123700）是一种罕见的结缔组织疾病，其特征在于松弛，多余的皮肤皱褶，这些皱褶可能在出生时就很明显，或者在以后的生活中出现。受灾最严重的区域是颈部，腋窝区域，躯干和腹股沟。通常，患者表现出特征性的面部特征，包括过早的老年外观，长发long，高额额头，大耳朵和鼻尖。心血管和肺部并发症包括二尖瓣主动脉瓣，主动脉根部扩张和肺气肿。散在地，这些并发症已被证明会导致过早死亡。也可能会出现一些罕见的发现，包括泌尿生殖道异常和胃食管问题。大多数患者在ELN基因的最后五个外显子之一（ADCL1，OMIM＃123700）中具有移码突变，而一位患者被描述在FBLN5基因中串联重复（ADCL2，OMIM＃614434）。在这里，我们介绍了一个来自近亲家庭的女性ADCL患者，其ELN发生了新的突变，并回顾了39位先前报道的ADCL患者。所有患者都有各种皮肤表现，而分别有61％，28％和38％的患者出现心血管，肺部和多发疝。斜视，泌尿生殖器异常，胃食管问题和脊柱侧弯可能很少出现。ADCL综合征的明确定义可以实现更准确的遗传咨询。所有患者都有各种皮肤表现，而分别有61％，28％和38％的患者出现心血管，肺部和多发疝。斜视，泌尿生殖器异常，胃食管问题和脊柱侧弯可能很少出现。ADCL综合征的明确定义可以实现更准确的遗传咨询。所有患者都有各种皮肤表现，而分别有61％，28％和38％的患者出现心血管，肺部和多发疝。斜视，泌尿生殖器异常，胃食管问题和脊柱侧弯可能很少出现。ADCL综合征的明确定义可以实现更准确的遗传咨询。