Junctional epidermolysis bullosa.
Epidermolysis bullosa (EB) encompasses a heterogeneous group of genodermatoses, characterized by fragility and blistering of the skin, often associated with extracutaneous manifestations. The level of vesiculation within the skin defines 3 major subtypes of EB: EB simplex, junctional EB, and dystrophic EB. We present the case of a male neonate of 36 weeks of gestation, who was born with a few blisters with erosions and who rapidly developed extensive blistering of the skin. Histopathology revealed subepidermal blistering. Electron microscopy confirmed the cleavage of epidermis from dermis within the lamina lucida. Junctional EB was the diagnosis. The patient was discharged after hospitalization for 28 days. The development of new blisters with erosions were gradually improved after AQUACEL Ag dressing, and the general condition was much better than at admission. The patient likely has a subtype of junctional EB termed generalized atrophic benign EB that clinically improves with age. He has the potential to father children and has a normal life expectancy.
Kao
Chuan-Hong
CH
Department of Pediatrics, Taipei Veterans General Hospital, National Yang-Ming University School of Medicine, Taipei, Taiwan, R.O.C.
Chen
Sue-Jen
SJ
Hwang
Betau
B
Yang
An-Hang
AH
Hsu
Chih-Yi
CY
Huang
Cheng-Hung
CH
D016109:Epidermolysis Bullosa, Junctional / Q000209:etiology / Q000473:pathology* / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D008297:Male