Oral steroid improves bullous pemphigoid-like clinical manifestations in non-Herlitz junctional epidermolysis bullosa with COL17A1 mutation.

[junctional epidermolysis bullosa]

Non-Herlitz junctional epidermolysis bullosa (JEB -nH ), a nonlethal variant of junctional epidermolysis bullosa (JEB ), is an autosomal recessive disorder characterized by separation of the dermal-epidermal junction . JEB -nH is caused by mutations in several genes and lack of the COL 17 A 1 gene product may lead to skin fragility . A 41 -year -old Japanese man with JEB -nH , featuring mutations in the gene encoding type XVII collagen , presented with great blisters over his entire body accompanied by severe itching and eosinophilia usually observed in bullous pemphigoid (BP ). To our knowledge , our patient is the first with JEB -nH to be treated successfully with an oral steroid to control his skin affliction , symptoms and eosinophilia . This suggests that in the case of JEB -nH with eosinophilia caused by some secondary immune activation , oral steroids may constitute an alternate therapy to improve aggravated skin conditions and severe itching , both of which tend to show resistance to usual dermatological treatments .