EB Patient Detail Information

Patient ID	227
Gene1	COL7A1
Mutation1	c.6048_6076del
Protein1,蛋白质变化1	p.G2018Rfs*71
Effect1,突变的影响1
Gene2	COL7A1
Mutation2	c.6831+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 Intermediate
Gender，性别	Female
Ethnicity，种族民族	Han
Clinical Age，检查检测时的年龄	65
Affected Area，皮损面积，如generalized, pretibial	generalized erythema, blister, and scars. erosions, keloids, granulation tissue. hyperpigmentation, hyperpigmentation, photosensitivity, milia, dermatoglyph missing. affected 90% areas
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	hand atrophic
Keratoderma，有无角化过度	keratoderma
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
Feet，脚趾是否并指
Granulation，伤口表面是否有肉芽增生	presented with erosions longer than 6 months, in less than 1% of surface area.
Anemia，是否有贫血及严重程度
Oral Erosion，口腔溃疡情况	oral pain frequently. microstomia. erosion frequently
Teeth，龋齿，釉质缺失，脱落等情况	gingivitis. enamel abnormal. decayed and lost teeth.
Genitourinary Tract，有无尿道狭窄，疼痛
Respiratory Tract，有无嘶哑的情况	frequently hoarse. mild breath difficulty
SCC，有无鳞状细胞癌，数量，位置
Hair Loss，少发，脱发	scalding 40~59%.
Itch，有无瘙痒及严重程度	frequently itch, score 8. lasting for 30-60 minutes every time. mainly happens in the evening. intensifying with heat, cold, sweating, and weather change. bad sleeping. oral drugs effective, but not take drug continuously.
Swallow，有无吞咽困难	frequently swallow difficulty. normal food.
Others，其它特别的情况	disease on both eyes. corneal scars, pannus. eyelid erosion and scars. chronic constipation, hemafecia, pain, anal fissure. stricture of the anus. infrequently uremia and odynuria. foamy urine, but no further diagnosis 症状描述来自上海新华医院皮肤科

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