Pasini型先天性表皮水疱症の2例

TWO CASES OF EPIDERMOLYSIS BULLOSA DYSTROPHICA ET ALBO-PAPULOIDEA (PASINI)

　水疱形成をおもな皮膚症状とする疾患のうちで，天疱瘡群および疱疹状皮膚炎類に属する疾患については，近年の免疫組織学的手技をバックとした知見が本邦でも報告されているが^1〜6），単に機械的刺激だけで水疱を生ずる遺伝的疾患，すなわち先天性表皮水疱症は，いく多のすぐれた観察^7〜9）にもかかわらずいまだその本態を明らかにしていない。しかもそれは成長とともに自然に寛解する単純型といわれるものから，生下時すでに皮膚欠損を伴い1カ月以内に死亡してしまう致死型に至るまで，いくつかの群に分けられている。われわれもその1つの型，1928年Pasini^10）が記載した白色丘疹様先天性表皮水疱症Epidermoly-sis bullosa dystrophica et albo-papuloideaに相当すると思われる2例を経験したので報告する。1例は昭和41年横浜市大の，1例は昭和45年神奈川県立こども医療センターの症例である。

Two cases of this disease were reported.

Case 1 : A 19-year-old man have had repeated attacks of bullae formation on the extremities since several months after birth. Nails of fingers and toes became atrophic gradually, and white papules appeared on the abdomen and upper extremities at the age of 15. No consangui-nity could be proved, but the same disorders were found in his brother and paternal uncles.

Case 2 : A 8-year- and 7-month-old boy have been suffered from repeated attacks of bullous eruptions on the fingers, toes, cubital and patellar region, and then backs of the hands and feet since 6 months after birth. Atrophy of nails of toes became prominent at the age of 6, and also white punctate eruptions on the shoulders and upper part of the back were found. His maternal grandfather and grandmother were cousins, but this disease could not be proved in his family.

Nothing abnormal was found in the mouth of the above two patients. The results of the laboratory examinations were within normal limits. Histologic specimen showed the subepider-mal bullae. That from the vitiligo on the back ofcase 2 showed the decreased and dissected elastic fibers in the upper dermis and increased fibers in the lower dermis.