Multiple milia as an isolated skin manifestation of dominant dystrophic epidermolysis bullosa: Evidence of phenotypic variability.
Multiple milia as an isolated skin manifestation of dominant dystrophic epidermolysis bullosa: Evidence of phenotypic variability.
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多发性粟丘疹是显性营养不良性大疱性表皮松解症的孤立皮肤表现：表型变异的证据。
DOI：
10.1111/pde.13047
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发表时间：
2017
期刊：
影响因子：
1.5
通讯作者：
Sawamura D
中科院分区：
文献类型：
--
作者：
Akasaka E;Nakano H;Takagi Y;Toyomaki Y;Sawamura D
我们报道了一个日本家系的显性营养不良大疱性表皮溶解症（DDEB），携带col7a1的p.G2251E突变。这个家系的先证者表现为多发性粟疹，是一种孤立的皮肤表现，没有起泡史，随后发展为全身性难治性水疱，这表明多发性粟疹可能是DDEB的主要表现。她的母亲表现出指甲营养不良和瘙痒性结节，她的姐姐没有受到影响，尽管有相同的ecol7a1突变。在DDEB中经常观察到家族间和家族内的临床变异性，因此我们应该意识到这一因素，以提供适当的遗传咨询。
We report a Japanese pedigree with dominant dystrophic epidermolysis bullosa (DDEB) harboring the p.G2251E mutation ofCOL7A1. The proband of this pedigree presented with multiple milia as an isolated skin manifestation without a history of blistering and subsequently developed generalized intractable blisters, suggesting that multiple milia could be a primary manifestation of DDEB. Her mother exhibited nail dystrophy and pruritic nodules and her elder sister was unaffected, despite having the sameCOL7A1mutation. Inter‐ and intrafamilial clinical variability are often observed in DDEB, so we should be aware of this factor to provide appropriate genetic counselling.