先天性皮膚欠損を伴つた表皮水疱症の1例

A CASE OF EPIDERMOLYSIS BULLOSA CONGENITA ASSOCIATED WITH CONGENITAL SKIN DEFECT

　先天性表皮水疱症で，生下時皮膚欠損の見られるものとしては，致死性表皮水疱症がある．しかし比較的速かにほとんど瘢痕を残さずに治癒する生来性の皮膚欠損を有し，生後水疱が出没し，また瓜の異常を頻繁に伴い，良性経過をとる臨床型を1966年Bart^1）はAnew syndrome-congenitalIocalized absence of skin and associated abnor-malities resembling epidermolysis bullosaの名称の下に記載している．すなわちBartは遺伝学的な立場に立脚し，5世代にわたる104人を追跡し，これまで記載されている先天性表皮水疱症とも先天性皮膚欠損症とも異る1症候群と考えた．我々はBartの記載した新症候群と同一と考えられる1症例を経験し，臨床および病理組織学的検討ならびに遺伝関係より，優性遺伝性栄養障害型先天性表皮水疱症の特異型としてなんらさしつかえないと考えてここに報告し，併せてEpidermolysisbullosa dystrophica hypcrplas-tica （Touraine）との異同につき若干の考察を試みた．

A two-day-old boy was found to have an ulcer in the anterior aspect of the right lower leg to foot at birth, which spontaneously healed leaving a slight scar formation after a month.

After a birth, he has developed bullae repeatedly by slight mechanical irritations. 2 weeks later, de-formities of nails were noticed. Many numbers of his family were similarly affected.

This case was thought a variant type of dominant epidermolysis bullosa dystrophica hyperplastica (Tourainc).