Epidermolysis bullosa and chronic renal failure
Epidermolysis bullosa and chronic renal failure
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DOI：
10.1093/ndt/13.8.2133
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发表时间：
1998-08-01
影响因子：
6.1
通讯作者：
Perez-Garcia, A
中科院分区：
文献类型：
--
作者：
Cuesta-Estelles, G;Escobedo-Rumoroso, JM;Perez-Garcia, A
1例20岁男性被诊断为隐性营养不良性大疱性表皮松解症。患者有近亲父母(第二表亲)；一名男性兄弟姐妹出生后死于这种疾病，而一名患有大疱性表皮松解症的男性表亲在5个月大时死亡。这些病变从出生起就存在。在儿童时期，在皮肤科的管理下，患者接受了皮质激素、维生素E
A 20-year-old male was diagnosed with recessive dystrophic epidermolysis bullosa. The patient had consanguineous parents (second cousins); a male sibling had died of the disease following birth, while a male first cousin with epidermolysis bullosa died at the age of 5 months. The lesions were present since birth. During childhood, and under management by the Service of Dermatology, the patient received corticoids, vitamin E