EB Patient Detail Information

Patient ID	211
Gene1	COL17A1
Mutation1	c.1612delA
Protein1,蛋白质变化1	p.I538Lfs*15
Effect1,突变的影响1
Gene2
Mutation2	not found
Protein2,蛋白质变化2
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	27
Affected Area，皮损面积，如generalized, pretibial	皮肤可见大片损伤，可见数个囊性疱疹，直径最大者2*0.5cm，疱内可见黄色液体。皮损面积：92%. erythema, blisters, erosions, scars, hyperpigmentation, hypopigmentation chronic wound (> 6 months) < 1% of surface area.
Blister, 有无水疱及严重程度
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	pachyonychia. dystrophic and lost nails.
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	occasional pain
Teeth，龋齿，釉质缺失，脱落等情况	decayed teeth
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	alopecia 20-39%
Itch，有无瘙痒及严重程度	itch score 4. 1 to several times each week. less than 30 minutes each time. intensify when weather change.
Swallow，有无吞咽困难	occasionally dysphagia. normal food.
Others，其它特别的情况	occasionally constipation, hemafecia, pain, fissure. difficulty on expiration. parent also has nail abnormality.

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