Epidermólise bolhosa distrófica e juncional: aspectos gastrointestinais / Epidermolysis bullosa, dystrophic and junctional type: gastrointestinal aspects

Objetivo: avaliar os distúrbios gastrointestinais de crianças e adolescentes com epidermólise bolhosa do tipo distrófica e juncional. Métodos: foram analisados os sinais e sintomas gastrointestinais presentes no primeiro atendimento, assim como os resultados de exames, de todosos pacientes atendidos com a doença em uma unidade universitária de gastroenterologia pediátrica / Objective: to evaluate the gastrointestinal disturbances observed in patientss with epidermolysis bullosa, junctional and dystrophic type. Methods: the gastrointestinal complaints at the first consultation were analysis...

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.

Alteraciones de la zona de membrana basal en enfermedades cutáneas / Abnormalities of the basement membrane zone in cutaneous diseases

Diversas enfermedades cutáneas se caracterizan por alteraciones localizadas preferentemente en la zona de membrana basal. Estas dermatosis se han hereditarias y adquiridas. Se pueden encontrar cambios ultraestructurales en la membrana basal, muchos de los cuales serían causados por fenómenos autoinmunes. Múltiples investigaciones han permitido aclarar la morfogénesis de las lesiones clínicamente visibles que afectan esta zona en particular. En la presente revisión se realiza una puesta al día de la última información de la literatura sobre estas interesantes enfermedades