EB患者突变数据库 EB patients mutation database
EB Patient Detail Information
Patient ID | 240 |
Gene1 | COL17A1 |
Mutation1 | c.2975C>A |
Protein1,蛋白质变化1 | p.S992X |
Effect1,突变的影响1 | |
Gene2 | COL17A1 |
Mutation2 | c.427C>T |
Protein2,蛋白质变化2 | p.R143X |
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 | 16 |
Affected Area,皮损面积,如generalized, pretibial | skin loss on both hands, bone exposed on the right index finger, on birth. |
Blister, 有无水疱及严重程度 | blister and itch for 15 years. blisters happen after friction, heal with scars. erythema, erosion, hyper- and hypo-pigmentation, scars, keloids, |
Milia,粟丘疹有无,多少,位置 | milia, EB nevi, poikiloderma, loss of dermatoglyph |
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 | |
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 | blister after harsh food. frequently pain. gingivitis, |
Teeth,龋齿,釉质缺失,脱落等情况 | dystrophic teeth. too many decayed and lost teeth. enamel abnormal. |
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 | eyebrow and eyelash lost. scalding > 80% |
Itch,有无瘙痒及严重程度 | itching score 9, itch frequently, more than 2 hours each time, happens on daytime and night. intensify on hot, sweating, nervous, and weather change. using antihistamines, with poor effect. |
Swallow,有无吞咽困难 | not frequently swallow difficulty. normal food. |
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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