■先天性表皮发育不全(MACC)是先天性表皮发育不全(ACC)最常见的临床亚型。它以缺乏毛发的局部皮肤病变为代表,并具有膜状表面。虽然大多数MACC个体不存在并发异常,它有时会与其他身体异常和各种畸形综合征同时发生。此外,MACC的根本原因仍然难以捉摸。
■我们描述了一个6个月大的女婴被诊断为MACC的病例。患者出现枕骨头皮中线皮肤病变,以闪闪发光的表面和发领标志为特征。皮肤镜检查显示特定特征,包括半透明,毛细血管扩张症,和多毛症。这个婴儿有卵圆孔未闭的病史,进一步检查发现无症状的室间隔缺损。全外显子组测序显示与患者临床表型相关的20种基因变异,暗示可能与MACC有联系。
■MACC是一种罕见且报道不足的疾病,主要根据其独特的临床特征诊断。必须强调对MACC患者进行全面评估的重要性,包括发展,心脏,神经学,和遗传评估,以促进早期发现和排除潜在威胁生命的合并症。重要的是,遗传表征,正如在这个案例中所证明的,有助于我们了解MACC的病因,并强调需要在这一领域进一步研究。
UNASSIGNED: Membranous aplasia cutis congenita (MACC) is the most common clinical subtype of aplasia cutis congenita (ACC). It is typified by a localized skin lesion devoid of hair and features a membranous surface. While most MACC individuals do not present with concurrent abnormalities, it can sometimes co-occur with additional physical anomalies and various malformation syndromes. Moreover, the underlying causes of MACC remain elusive.
UNASSIGNED: We describe a case of a 6-month-old female infant diagnosed with MACC. The patient presented with a midline skin lesion on the occipital scalp, characterized by a glistening surface and a hair collar sign. Dermoscopic examination revealed specific features, including translucency, telangiectasia, and hypertrichosis. The infant had a history of patent foramen ovale, and further examination uncovered an asymptomatic ventricular septal defect. Whole exome sequencing revealed 20 gene variants relevant to the clinical phenotype of the patient, suggesting a possible association with MACC.
UNASSIGNED: MACC is a rare and underreported condition, primarily diagnosed based on its distinctive clinical features. It is imperative to emphasize the significance of thorough evaluations in MACC patients, encompassing developmental, cardiac, neurological, and genetic assessments to facilitate early detection and the exclusion of potentially life-threatening comorbidities. Importantly, genetic characterization, as demonstrated in this case, contributes to our understanding of MACC\'s etiology and highlights the need for further research in this field.