EB Patient Detail Information

Patient ID	228
Gene1	COL7A1
Mutation1	c.2044C>T
Protein1,蛋白质变化1	p.R682X
Effect1,突变的影响1
Gene2	COL7A1
Mutation2	c.8038G>A
Protein2,蛋白质变化2	p.G2680S
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	29
Affected Area，皮损面积，如generalized, pretibial	generalized blisters and wounds, 30% of surface area. erythema, erosion, scar, cicatrices, granulation tissue, hyperpigmentation, hypopigmentation, loss of dermatoglyph.
Blister, 有无水疱及严重程度	chronic wound lasted for 6 months, less than 1% of surface area.
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 nails lost
Hand，是否有并指
Cocoon Hand，是否有茧套状并指	Cocon Hand
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	pain sometimes, ankyloglossia, microstomia. blisters and erosions.
Teeth，龋齿，釉质缺失，脱落等情况	gingivitis, many decayed and lost 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
Itch，有无瘙痒及严重程度	itch score 10. frequently every day and any time. intensifying in hot conditions.
Swallow，有无吞咽困难
Others，其它特别的情况	infrequent constipation, hemafecia, pain, anal fissure, anal stricture. hematuria, and albuminuria 症状描述来自上海新华医院皮肤科

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