食道狭窄を伴うEpidermolysis bullosa hereditaria dystrophica polydysplasticaの1例

EPIDERMOLYSIS BULLOSA HEREDITARIA DYSTROPHICA POLYDYSPLASTICA WITH OESOPHAGUS STENOSIS

　Epidermolysis bullosa hereditariaは基底細胞あるいは表皮・真皮境界部の構造欠陥にもとずき，外傷時には自然に発生する水疱形成を主徴とする遺伝的疾患である。

　近年Cockayne （1933）^1）およびTouraine （1942）^2）の分類以来，臨床形態および遺伝的見地から1） Epidermolysis bullosa hereditaria simplex2） Epidermolysis bullosa hereditaria dystro-phica hyperplastica （dominante Form）3） Epi-dermolysis bullosa hereditaria dystrophicapolydysplastica （recessive Form）の3型に分けられ，さらに最近Pearson^3），Schnyderら^4）の組織学的，電顕的検索により発生病理学的見地からもこれらの分類の再確認がなされてきている。

A typical case of this disease in a 18-year-old man with stenosis in the upper oesophagus, which was proved by roentgenographically and surgically, was reported.

Only 25 cases which accompanied the oesophagus stenosis have been reported, but not a few cases with complains of the swarrowing disturbance have been reported. It indicates the importance of the roentgenological and endoscopic examinations in such cases.

Although the irregular lining of the teeth in this disease has been regarded as a secondary change induced from the abnormal gingivae, a congenital abnormality of the dentition was proved in this case by the early developement of decayed teeth, distorted teeth and excess of teeth.

The importance of the theory of the overproduction of collagenase as a cause of the disease was stressed.