EB Patient Detail Information

Patient ID	205
Gene1	COL7A1
Mutation1	c.4719delA
Protein1,蛋白质变化1	p.E1573Dfs*137
Effect1,突变的影响1
Gene2	COL7A1
Mutation2	c.682+1G>T
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	RDEB Severe
Gender，性别	Male
Ethnicity，种族民族	Han
Clinical Age，检查检测时的年龄	7
Affected Area，皮损面积，如generalized, pretibial	generalized (90% surface area) blisters and erosions. erythema, blisters, erosion, scabs, hyperpigmentation, hypopigmentation, milia, loss of dermatoglyph
Blister, 有无水疱及严重程度	出生时口腔，左手，右足即有水疱，糜烂，后全身逐渐出现类似皮疹，累及全身，自觉瘙痒。曾于诏安及厦门某医院诊断为大疱性表皮松解症，规律外用药物
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	mitten fingers
Cocoon Hand，是否有茧套状并指
Feet，脚趾是否并指	mitten toes. some toes lost
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	frequently pain. ankyloglossia. gingivitis. abnormal enamel. continuous erosion.
Teeth，龋齿，釉质缺失，脱落等情况	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	1 to more times every day. lasting 1-2 hours each time. happens on the night. hot and sweat intensify the itching. bad sleeping. used chlorpheniramine.
Swallow，有无吞咽困难	continuous difficult swallow. fluid food.
Others，其它特别的情况	chronic constipation. frequently hemafecia. defecation pain, anal fissure, stricture of the anus. 症状信息来自上海新华医院皮肤科

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