Epidermolysis bullosa letalis
Overview
EBL is one of several serious skin disorders with severe blistering of the skin. The infantile form identified in the Holmes County Amish may have its onset before birth with blisters forming in utero and therefore lesions are often present at birth. Most are on the limbs and trunk with relative sparing of the hands and feet. They rarely heal and instead the raw tissue beneath constantly seeps serum protein and electrolytes much like thermal burns do and there may significant loss of bodily fluids. The slightest touch may lead to sloughing of the superficial skin. Infection is a constant threat and these complications often lead to death within weeks to months.
Prognosis
Life expectancy less than 6 months.
Treatment
There is no effective treatment beyond comfort and supportive care. Few survive beyond 6 months.Skin care, antibiotics, delicate physical manipulation