EB Patient Detail Information

Patient ID	206
Gene1	COL7A1
Mutation1	c.8569G>T
Protein1,蛋白质变化1	p.E2857X
Effect1,突变的影响1
Gene2	COL7A1
Mutation2	c.495dupG
Protein2,蛋白质变化2	p.Q166Afs*14
Effect2,突变的影响2
Inheritance，遗传模式	Recessive
Subtype，类型和亚型	RDEB Severe
Gender，性别	Male
Ethnicity，种族民族	Han
Clinical Age，检查检测时的年龄	21
Affected Area，皮损面积，如generalized, pretibial	skin lost from knees to heels on birth. relieved later. erythema, blisters, erosion, scabs, hyperpigmentation, hypopigmentation.
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
Hand，是否有并指	webbing
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	ankyloglossia. frequently blister and erosion.
Teeth，龋齿，釉质缺失，脱落等情况	decayed teeth and some teeth lost
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
Itch，有无瘙痒及严重程度	itch level 4.5. 1 to several times every day. lasting 30-60 minutes each time. happens on day and night. bad sleeping. hot weather intensifies the itch. cetirizine has good effect.
Swallow，有无吞咽困难	continuous difficulty of swallow
Others，其它特别的情况	dystrophic muscle. 症状信息来自上海新华医院皮肤科

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