The lethal gene in a 6-year-old boy: A case report

ABSTRACT

This is a report of a case of a 6-year-old boy who came in due to generalized crusted erosions. His condition started at 2 days of age as appearance of tense vehicles which progress into bullae on normal or erythematous base after mild trauma on the extremities and later become generalized. The vesicles would become ersosions and crusts and heal with minimal residual scarring. As old lesions heal, new vesicles would appear. Nikolsky and Asboe-Hansen signs were negative. No extracutaneous or mucosal involvement was noted. Family history revealed that all of his five siblings had appearance of similar vesicobullous lesions few days after birth. Four of them died during the first six months of life. The older surviving sister, now age 10, showed gradual improvement of the condition as she grew older.Paternal and maternal family histories have no similar lesions. Skin punch biopsy revealed a subepidermal blistering disease. Direct and indirect immunofluoroscence were negative, consistent with generalized atrophic benign epidermolysis bullosa. Treatment of this disorder remains elusive. Management is focused mainly in the prevention of trauma as well as supportive measures. Patient education and genetic counseling are also cornerstones of management as in any genetic disorder. Advances in prenatal testing and gene therapy provide hope for early diagnosis and intervention.