Kim Se Jin, Ko Jung Min, Shin Seung Han, Kim Ee-Kyung, Kim Han-Suk, Lee Kyung-A
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea.
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea
Ann Clin Lab Sci. 2017 Mar;47(2):213-216.
Desmoplakin is an essential cytoplasmic plaque protein in desmosomes, and it is the major linker between intercellular junctions in the skin and heart. The role of desmoplakin is anchoring transmembrane cadherins to cytoplasmic intermediate filaments. The desmoplakin gene () is located on chromosome 6, and six common allelic disorders are associated with this gene, including autosomal-dominant or -recessive disorders that affect the skin, heart, hair, and nails. In particular, lethal acantholytic epidermolysis bullosa (LAEB) is an autosomal recessively inherited and extremely rare genetic skin disorder, and only three molecularly confirmed families with LAEB have been reported previously. Generalized oozing erosion of the entire skin is the main clinical feature, which leads to excessive transcutaneous fluid loss and neonatal death. Histopathologically, this disorder is classified as a suprabasal subtype of epidermolysis bullosa simplex. In this study, we report for the first time in Korea on monozygotic twins with LAEB caused by two novel nonsense mutations in the gene. Both of the twins exhibited severe and rapid progressive whole body skin erosion, and they died shortly after birth because of multiorgan failure followed by excessive fluid loss.
桥粒斑蛋白是桥粒中一种重要的细胞质斑块蛋白，是皮肤和心脏细胞间连接的主要连接蛋白。桥粒斑蛋白的作用是将跨膜钙黏蛋白锚定到细胞质中间丝上。桥粒斑蛋白基因（）位于6号染色体上，该基因与六种常见的等位基因疾病相关，包括影响皮肤、心脏、毛发和指甲的常染色体显性或隐性疾病。特别是，致死性棘层松解性大疱性表皮松解症（LAEB）是一种常染色体隐性遗传且极其罕见的遗传性皮肤病，此前仅报道过三个经分子确认的患有LAEB的家庭。整个皮肤广泛渗出性糜烂是主要临床特征，这会导致经皮液体过度流失和新生儿死亡。组织病理学上，这种疾病被归类为单纯性大疱性表皮松解症的基底层上亚型。在本研究中，我们首次在韩国报道了一对患有LAEB的同卵双胞胎，其病因是基因中的两个新的无义突变。这对双胞胎均表现出严重且迅速进展的全身皮肤糜烂，出生后不久因多器官衰竭继以液体过度流失而死亡。
