Department of Pediatrics, The Affiliated Hospital of Jiangsu University, Zhenjiang, Jiangsu, China.
School of Public Health, Southern Medical University, Guangzhou, Guangdong, China.
BMC Pediatr. 2024 Apr 5;24(1):242. doi: 10.1186/s12887-024-04715-0.
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.
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.
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.
大疱性表皮松解症是一种罕见的遗传性皮肤病，可导致水疱。编码位于基底膜-表皮交界处或附近的结构蛋白的基因以隐性或显性方式发生突变，这是 EB 的主要原因。在此，两名中国男孩被诊断出患有该病，他们各自的基因变异不同，这为 EB 的遗传咨询提供了参考。皮肤护理对他们的预后和生活质量有显著影响。
两名中国男孩，其表型正常的父母，被诊断出具有不同的水疱症状，一个患有显性营养不良性大疱性表皮松解症，另一个患有严重的单纯性大疱性表皮松解症。第一个患者在 COL7A1 等位基因的核苷酸位置 6163 处存在 G 到 A 的变异，称为“G2055A”。由于 COL7A1 等位基因的三螺旋结构域中存在甘氨酸取代，先证者为营养不良性大疱性表皮松解症的杂合子。他的母亲也携带相同的变异，表明该变异可能会遗传给后代。另一名患者患有严重的单纯性大疱性表皮松解症，其罕见的 c.377T > A 变异导致氨基酸 p.Leu126Arg（NM_000526.5（c.377T > G，p.Leu126Arg）在角蛋白 14 基因中的取代。在之前的文献中，角蛋白 14 与良好的预后相关。然而，我们的患者携带这种罕见的变异，在 21 天大时因败血症而不幸死亡。该变异仅报告过一次。
我们的研究表明，COL7A1 c.6163G > A 和 KRT14 c.377T>A 变异的大疱性表皮松解症患者具有不同的临床表现，显性营养不良性 EB 形式的表型比隐性形式更为轻微。因此，c.6163G > A 患者的预后较好。此外，c.377T>A 患者比携带 c.6163G>A 基因突变的患者更容易感染。基因检测对于确定特定的变异并改善治疗方案至关重要。
