Congenital Absence of Skin on the Right Leg and Nail Abnormalities-Epidermolysis Bullosa or Bart’s Syndrom ?

Children born with the epidermolysis bullosa (so-called “butterfly children”) can eat only liquid or soft food due to the blisters on their mouth, tongue and esophagus. Due to their inactivity and permanent wounds, their fingers are curved and grown with a fist. Their eyes, anus and genitals are not spared either. The digestion is usually poor, so they often suffer from the constipation, and sometimes the intestine discharge can be performed only surgically. Due to frequent and numerous wounds, infections may develop, which can lead to sepsis. Wounds are caused by any kind of the pressure and re-bandaging of wounds is the most painful. These children can later be susceptible to other diseases, especially the skin cancer. More than 80% of children diagnosed with this disease become disabled in the first years of their lives, and some of them pass away immediately after birth. The average lifespan of the diseased is about 28 years. Here we have presented a rare case of a newborn male infant with a dystrophic epidermolysis bullousa, a congenital skin aplasia on the right leg and a nail dystrophy. Based on a typical clinical presentation, we think that it is Bart’s syndrome.