EB患者突变数据库 EB patients mutation database

EB Patient Detail Information
Patient ID 242
Gene1 LAMB3
Mutation1 c.1172_1179delins TGTGTGTGCAAGGAG
Protein1,蛋白质变化1 p.P391Lfs*23
Effect1,突变的影响1
Gene2 LAMB3
Mutation2 c.1172_1179delins TGTGTGTGCAAGGAG
Protein2,蛋白质变化2 p.P391Lfs*23
Effect2,突变的影响2
Inheritance,遗传模式 Recessive
Subtype,类型和亚型 JEB Intermediate
Gender,性别 Male
Ethnicity,种族民族 Han
Clinical Age,检查检测时的年龄 31
Affected Area,皮损面积,如generalized, pretibial erythema, blisters, scar, hyperpigmentation and hypopigmentation, EB nevi on the right face. chronic wound around the mouth, start on about 20.
Blister, 有无水疱及严重程度 blisters on the abdomen, back several days after birth
Milia,粟丘疹有无,多少,位置
Atrophic Scar,有无萎缩性疤痕
Keratoderma,有无角化过度
Nail,甲是否缺失及发育不良 all nails lost
Hand,是否有并指 slightly dystrophic
Cocoon Hand,是否有茧套状并指
Feet,脚趾是否并指
Granulation,伤口表面是否有肉芽增生
Anemia,是否有贫血及严重程度
Oral Erosion,口腔溃疡情况 seldom pain
Teeth,龋齿,釉质缺失,脱落等情况 teeth lost
Genitourinary Tract,有无尿道狭窄,疼痛 genitourinary tract strict. expanded two times. 尿频,尿急,尿痛。偶有尿道炎
Respiratory Tract,有无嘶哑的情况 seldom stridor.
SCC,有无鳞状细胞癌,数量,位置
Hair Loss,少发,脱发 scalding 1-19%
Itch,有无瘙痒及严重程度 score 2
Swallow,有无吞咽困难 normal food. chronic constipation. frequently hemafecia, anal fissure.
Others,其它特别的情况 症状描述来自上海新华医院皮肤科
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