Otte H G, Stieler W, Anton-Lamprecht I
Hautklinik, Universitäts-Hautklinik, Heidelberg.
Hautarzt. 1990 Sep;41(9):494-8.
Recessive dystrophic epidermolysis bullosa is one of the most severe hereditary mechano-bullous diseases, characterized by scarring blister formation, nail dystrophy and onycholysis, cutaneous contractures, synechiae, mutilations of the hands and feet and oesophageal stenosis. With increasing age the patients may develop multiple, fast-growing and early-metastasizing squamous cell carcinomas. When epidermolysis is present, precise determination of which of the various forms is concerned is necessary soon after birth, to make it possible to advise parents about the prognosis of the disease and the likelihood of its occurrence in further children. In pregnancies at risk of severe epidermolysis bullosa a prenatal diagnosis should be performed. We present two siblings with recessive dystrophic epidermolysis bullosa, each of whom developed two squamous cell carcinomas.
隐性营养不良型大疱性表皮松解症是最严重的遗传性机械性大疱性疾病之一,其特征为形成瘢痕性水疱、指甲营养不良和甲剥离、皮肤挛缩、粘连、手足致残以及食管狭窄。随着年龄增长,患者可能会发展为多发性、快速生长且早期转移的鳞状细胞癌。当出现表皮松解时,出生后应尽快准确确定所涉及的具体类型,以便向家长告知疾病的预后情况及其在后续子女中发生的可能性。对于有患严重大疱性表皮松解症风险的妊娠,应进行产前诊断。我们报告了两名患有隐性营养不良型大疱性表皮松解症的同胞兄弟姐妹,他们每人都患了两种鳞状细胞癌。