劣性栄養障害型表皮水疱症

・出生時より体幹四肢にびらんと水疱を認め，電顕，蛍光抗体法，遺伝子検査で劣性栄養障害型表皮水疱症（dystrophic epidermolysis bullosa：DEB）と診断した．・遺伝子検査で，c.6573＋1G>Cとc.6885_6898del14の複合ヘテロ接合体（compound heterozygous）変異を認め，重症化することが予想されたが，両親の手厚い処置により臨床所見は比較的軽症で経過した．（「症例のポイント」より）

A case of recessive dystrophic epidermolysis bullosa

Harada, Tae1）Miyawaki, Saori2）Tohyama, Mikiko1）Shinkuma, Satoru3）Sayama, Koji1） 1）Department of Dermatology, Ehime University Graduate School of Medicine 2）Sanbancho SAORI Hihuka 3）Department of Dermatology, Niigata University Graduate School of Medicine

Abstract A 0-day-old girl presented with extensive blistering and erosions on the whole body and in the mouth since birth. There is no family history of blistering disease. Transmission electron microscopy showed clefts within the sublamina densa region and a few thin, poorly formed anchoring fibrils. Immunofluorescence analysis showed reduction of COL7 at the dermal-epidermal junction. These results led us to diagnose recessive dystrophic epidermolysis bullosa. Direct sequencing analysis of exon and intron-exon boundaries of COL7A1 revealed that the patient was compound heterozygous for the mutations, c.6573＋1G>C and c.6885_6898del14. She has kept mild symptoms by her parents’ daily appropriate skin care.