EB患者突变数据库 EB patients mutation database

EB Patient Detail Information
Patient ID 35
Gene1 COL17A1
Mutation1 c.4159C>T
Protein1,蛋白质变化1 Q1387X
Effect1,突变的影响1
Gene2 COL7A1
Mutation2 c.2635C>T
Protein2,蛋白质变化2 R879X
Effect2,突变的影响2
Inheritance,遗传模式 Recessive
Subtype,类型和亚型 RDEB Intermediate
Gender,性别 Female
Ethnicity,种族民族 Han
Clinical Age,检查检测时的年龄 1
Affected Area,皮损面积,如generalized, pretibial generalized blisters. erythema. erosions. scars. hyperpigmentation, hypopigmentation, EB nevi.
Blister, 有无水疱及严重程度
Milia,粟丘疹有无,多少,位置 yes
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 pachyonychia. 3 dystrophic toes on each foot.
Hand,是否有并指
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
Teeth,龋齿,釉质缺失,脱落等情况
Genitourinary Tract,有无尿道狭窄,疼痛
Respiratory Tract,有无嘶哑的情况
SCC,有无鳞状细胞癌,数量,位置
Hair Loss,少发,脱发 < 20%
Itch,有无瘙痒及严重程度 score 4. frequently, 30-60 minutes each time. mainly on night. Intensifying on heat. sleep affected.
Swallow,有无吞咽困难 seldom constipation
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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