■大疱疮是一种罕见的遗传性皮肤病,可引起水疱。在真皮-表皮交界处或附近编码结构蛋白的基因被连续或主要突变,这是EB的主要原因。在这里,两名中国男孩被诊断出患有这种疾病,每个基因都有不同的变异,作为EB遗传咨询的参考。皮肤护理显著影响其预后和生活质量。
方法:两个中国男孩,表型正常的父母,被诊断出明显的水疱症状,一种患有显性营养不良性大疱性表皮松解症,另一种患有严重形式的单纯性大疱性表皮松解症。第一位患者在COL7A1等位基因中有G到A变异,在核苷酸位置6163,被命名为“G2055A”。由于COL7A1等位基因在三螺旋结构域具有甘氨酸取代,因此先证为营养不良性大疱性表皮松解症的杂合。在他的母亲身上发现了一个类似的变种,表明了它对后代的潜在传播。另一名患者患有严重的单纯大疱性表皮松解症,罕见的c.377T>A变体导致氨基酸p.Leu126Arg(NM_000526.5(c.377T>G,p.Leu126Arg)在角蛋白14基因中。在先前的文献中,角蛋白14与良好的预后相关。然而,我们患有这种罕见变异的患者在21日龄时不幸死于脓毒症。据报道该变体仅发生一次。
结论:我们的研究表明,患有COL7A1c.6163G>A和KRT14c.377T>A变异的大疱性表皮松解症患者具有不同的临床表现,与显性形式的营养不良性EB相比,其表型更为温和。因此,c.6163G>A患者预后较好。此外,c.377T>A患者比c.6163G>A基因变异的患者更容易感染。基因检测对于确定负责的特定变体和改善治疗方案至关重要。
UNASSIGNED: Bullosa is a rare hereditary skin condition that causes blisters. Genes encoding structural proteins at or near the dermal-epidermal junction are mutated recessively or dominantly, and this is the primary cause of EB. Herein, two Chinese boys were diagnosed with the condition, each with a different variant in a gene that serves as a reference for EB genetic counseling. Skincare significantly impacted their prognosis and quality of life.
METHODS: Two Chinese boys, with phenotypically normal parents, have been diagnosed with distinct blister symptoms, one with Dominant Dystrophic Epidermolysis Bullosa and the other with a severe form of Epidermolysis Bullosa Simplex. The first patient had a G-to-A variant in the COL7A1 allele, at nucleotide position 6163 which was named \"G2055A\". The proband is heterozygous for Dystrophic Epidermolysis Bullosa due to a COL7A1 allele with a glycine substitution at the triple helix domain. A similar variant has been discovered in his mother, indicating its potential transmission to future generations. Another patient had severe Epidermolysis Bullosa Simplex with a rare c.377T > A variant resulting in substitution of amino acid p.Leu126Arg (NM_000526.5 (c.377T > G, p.Leu126Arg) in the Keratin 14 gene. In prior literature, Keratin 14 has been associated with an excellent prognosis. However, our patient with this infrequent variant tragically died from sepsis at 21 days old. There has been a reported occurrence of the variant only once.
CONCLUSIONS: Our study reveals that Epidermolysis Bullosa patients with COL7A1 c.6163G > A and KRT14 c.377T>A variants have different clinical presentations, with dominant forms of Dystrophic EB having milder phenotypes than recessive ones. Thus, the better prognosis in the c.6163G > A patient. Furthermore, c.377T>A patient was more prone to infection than the patient with c.6163G>A gene variant. Genetic testing is crucial for identifying the specific variant responsible and improving treatment options.