EB Patient Detail Information

Patient ID	208
Gene1	COL7A1
Mutation1	c.8272delG
Protein1,蛋白质变化1	p.V2758Sfs*28
Effect1,突变的影响1
Gene2	COL7A1
Mutation2	c.5287C>T
Protein2,蛋白质变化2	p.R1763X
Effect2,突变的影响2
Inheritance，遗传模式	Recessive
Subtype，类型和亚型	RDEB Severe
Gender，性别	Female
Ethnicity，种族民族	Han
Clinical Age，检查检测时的年龄	13
Affected Area，皮损面积，如generalized, pretibial	出生时即有水疱及糜烂，始于下肢，逐渐范围扩大，曾在漳州医院诊断为大疱性表皮松解症，规律换药。generalized (80%) erythema, blisters, erosion, scabs, granulation tissues, hypopigmentation, sunlight sensitive, milia, dermatoglyph lost. chronic wound for more than 2 years. wound > 10% of the 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	all lost
Hand，是否有并指	completely mitten fingers
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	frequently pain, level 3-5. gingivitis, abnormal enamel, many decayed teeth. frequently erosions.
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
SCC，有无鳞状细胞癌，数量，位置
Hair Loss，少发，脱发	alopecia 20%-39%r
Itch，有无瘙痒及严重程度	itch score 8. 1 to more times every day. 1-2 hours each time. happens on evening, night, before sleeping. intensify with hot or weather change. bad sleeping. using cetirizine, alleviating itch.
Swallow，有无吞咽困难	swallow difficulty sometimes. fluid food. occasional constipation, pain on defecation, hemafecia, anal fissure. anal constriction. dystrophic muscles. decreased strength, started from 5 years old.
Others，其它特别的情况	eye pain sometimes. occasional hoarse, stridor. 症状信息来自上海新华医院皮肤科

Back to list