EB Patient Detail Information

Patient ID	29
Gene1	COL7A1
Mutation1	c.7289dupC
Protein1,蛋白质变化1	p.G2431Rfs*52
Effect1,突变的影响1
Gene2	COL7A1
Mutation2	c.3625_3635del
Protein2,蛋白质变化2	p.S1209Lfs*6
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	10
Affected Area，皮损面积，如generalized, pretibial	erosion < 1% or surface area. EB nevi. hyperpigmentation and hypopigmentation.
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	all lost
Hand，是否有并指	mild
Cocoon Hand，是否有茧套状并指	both feet
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	erosion sometimes. leukasmus. microstomia. ankyloglossia. sometimes pain
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	seldom
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	frequently itch every day, < 30 minutes each time. normally at night. intensified when sweating, nervous and weather change.
Swallow，有无吞咽困难	frequently. pap feeding. constipation, pain anal fissure.
Others，其它特别的情况	muscular dystrophia. eye pain sometimes. corneal scar.。临床信息由上海新华医院记录

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