PDF(Pubmed)
Abstract：
UNASSIGNED: Epidermolysis bullosa simplex (EBS) is a common, well-characterized type of epidermolysis bullosa. However, some rare syndromic EBS phenotypes are not well described. The accumulation of clinical descriptions of patients with syndromic subtypes of EBS is important for understanding the natural history of the disease and assessing genotype-phenotype correlations.
UNASSIGNED: We present a series of case reports of the syndromic subtype of EBS associated with mutations in the KLHL24 gene in seven patients from four unrelated families. The clinical features of this rare phenotype in children and adult patients are described in detail. In two families, we revealed pathogenic variant c.1A > G (p.Met1?) in the KLHL24 gene. The third family had c.3G > A (p.Met1?) mutation, and the fourth family had a novel de novo variant c.23del (p.Arg8AsnfsTer2).
UNASSIGNED: The description of the clinical manifestations of the disease in two generations of EBS families with different genetic variants allows the assessment and prediction of the natural course and severity of the disease in these families, the risk of complications, and the planning of the amount of medical care necessary.
UNASSIGNED: We present a series of case reports of the syndromic subtype of EBS associated with mutations in the KLHL24 gene in seven patients from four unrelated families. The clinical features of this rare phenotype in children and adult patients are described in detail. In two families, we revealed pathogenic variant c.1A > G (p.Met1?) in the KLHL24 gene. The third family had c.3G > A (p.Met1?) mutation, and the fourth family had a novel de novo variant c.23del (p.Arg8AsnfsTer2).
UNASSIGNED: The description of the clinical manifestations of the disease in two generations of EBS families with different genetic variants allows the assessment and prediction of the natural course and severity of the disease in these families, the risk of complications, and the planning of the amount of medical care necessary.
摘要：
■单纯性大疱性表皮松解症（EBS）是一种常见的，特征明确的大疱性表皮松解型。然而,一些罕见的综合征性EBS表型没有得到很好的描述.EBS综合征亚型患者的临床描述的积累对于了解疾病的自然史和评估基因型-表型相关性很重要。
■我们提供了一系列与KLHL24基因突变相关的EBS综合征亚型的病例报告，该病例报告来自四个无关家庭的7例患者。详细描述了儿童和成人患者这种罕见表型的临床特征。在两个家庭中，我们发现致病变异c.1A>G（p。Met1？）在KLHL24基因中。第三个家庭的c.3G>A（p。Met1？）突变，第四个家族有一个新的从头变体c.23del（p。Arg8AsnfsTer2）。
■对具有不同遗传变异的两代EBS家族中疾病的临床表现的描述，可以评估和预测这些家族中疾病的自然病程和严重程度，并发症的风险，以及必要的医疗数量的规划。
■我们提供了一系列与KLHL24基因突变相关的EBS综合征亚型的病例报告，该病例报告来自四个无关家庭的7例患者。详细描述了儿童和成人患者这种罕见表型的临床特征。在两个家庭中，我们发现致病变异c.1A>G（p。Met1？）在KLHL24基因中。第三个家庭的c.3G>A（p。Met1？）突变，第四个家族有一个新的从头变体c.23del（p。Arg8AsnfsTer2）。
■对具有不同遗传变异的两代EBS家族中疾病的临床表现的描述，可以评估和预测这些家族中疾病的自然病程和严重程度，并发症的风险，以及必要的医疗数量的规划。
