Epidermolysis bullosa letalis (Herlitz disease): a case report.
A case of junctional epidermolysis bullosa was reported. A four-month-old boy was presented with generalised blisters after minor trauma since birth. There was no family history of blistering diseases or consanguinity. Skin examination revealed blisters primarily on the upper and lower extremities. Erosions were also noted on the face, abdomen and buttocks. The lesions healed without milia or scarring formation. Anonychia of all fingers and toe nails were noted. Skin biopsy from the blisters showed subepidermal bulla with a few inflammatory cells. Electron microscopic examination revealed cleavage plane at the lamina lucida and the absence of hemidesmosomes. These findings supported a diagnosis of junctional epidermolysis bullosa. The patient was treated with topical and systemic antibiotics. However, the blisters gradually increased. He died of uncontrolled sepsis and diarrhea.
Singalavanija
S
S
Children's Hospital, Bangkok, Thailand.
Phuvichit
B
B
Palungwachira
P
P
D001706:Biopsy; D016109:Epidermolysis Bullosa, Junctional / Q000473:pathology*; D006801:Humans; D007223:Infant; D008297:Male; D008854:Microscopy, Electron; D012867:Skin / Q000473:pathology / Q000648:ultrastructure