背景:环状皮肤皱褶是一种罕见且异质的疾病,其特征是多个和多余的皮肤皱褶,可以作为孤立特征存在或与其他表型异常相关。这里,我们报告了一例新生儿,由于他的表型,他立即引起了我们的注意。
方法:一名男性白种人婴儿出生在胎龄39周零4天,并采用器械分娩,在32周以早产威胁为特征的怀孕后。据报道胎儿超声正常。该患者是非近亲父母的第一个孩子。出生时人体测量:体重3.590kg(0.57SDS);长度53cm(1.73SDS);颅围35.5cm(0.83SDS)。出生后不久的临床检查显示多发,涉及前臂的不对称和深层皮肤褶皱,腿和下眼睑(右>左)。这些褶皱似乎不会引起任何身体不适。此外,多毛症,小颌畸形,低耳朵和瘦,观察到上唇向下的边界。心肺,腹部和神经系统检查无异常。没有类似外观或其他身体异常的家族史。鉴于临床情况,进行了阵列CGH,这很正常.要求进行遗传咨询,并根据典型的皮肤受累诊断出环状皮肤折痕疾病,鉴于没有其他临床症状,这应该是一个良性的进化,皮肤褶皱随着时间的推移趋于消失。此外,婴儿的DNA被要求进行有针对性的遗传分析,结果是负面的。
结论:该临床病例强调需要进行详细的新生儿体检,以实现及时的诊断方法。我们的病人出现了多个皮肤褶皱,面部畸形,但系统和神经系统检查正常。无论如何,因为周向皮肤皱褶可能与后来的神经症状有关,建议定期重新评估。
Circumferential skin creases is a rare and heterogeneous disorder characterized by multiple and redundant skin folds, which can present as an isolated feature or in association with other phenotypic anomalies. Here, we report the case of a newborn who immediately captured our attention because of his phenotype.
A male Caucasian infant was born at 39 weeks and 4 days of gestational age with an instrumental delivery, after a pregnancy characterized by threat of preterm birth at 32 weeks. Fetal ultrasounds were reported to be normal. The patient was the first child of non-consanguineous parents. Anthropometry at birth: weight 3.590 kg (0.57 SDS); length 53 cm (1.73 SDS); cranial circumference 35.5 cm (0.83 SDS). Clinical examination soon after birth revealed multiple, asymmetric and deep skin folds involving forearms, legs and lower eyelids (right > left). These folds seemed not to cause any physical discomfort. In addition, hypertrichosis, micrognathia, low-set ears and a thin, down-turned border of upper lip were observed. Cardio-respiratory, abdominal and neurological examination was unremarkable. There was no family history of similar appearance or other physical abnormalities. Given the clinical picture, an array-CGH was performed, which was normal. A genetic counseling was requested and Circumferential Skin Creases disorder was diagnosed based on the typical cutaneous involvement and, given the absence of other clinical signs, it was supposed a benign evolution, with skin folds tending to disappear over time. In addition, the baby\'s DNA was requested for a targeted genetic analysis, which resulted negative.
This clinical case underlines the need of performing a detailed neonatal physical examination in order to realize a timely diagnostic approach. Our patient presented with multiple skin folds, facial dysmorphism but normal systemic and neurological examination. Anyways, since Circumferential Skin Creases may be associated with later neurological symptoms, a regular reevaluation is recommended.