Cantanhede girl battles rare “butterfly skin” disease

Pilar, a four-year-old girl living in Cantanhede, Portugal, is battling recessive dystrophic epidermolysis bullosa, a rare and incurable genetic disease often referred to as “butterfly skin.” The condition is caused by a lack of collagen type VII, making the skin extremely fragile and prone to blistering and wounding from even the slightest friction or touch.

Her mother, Tarciana Barros, describes a daily reality where simple gestures of affection, such as a firm hug or kiss, can cause physical injury. The disease can also affect mucous membranes and internal organs. Because the condition is currently only treatable through palliative care, the family is calling on the Portuguese state to provide better support and solutions to improve the quality of life for Pilar and others living with the disorder.

Medical professionals have noted that the progression of the disease could lead to serious complications, such as muscle atrophy or mobility issues if lesions affect the feet. Despite these challenges, Pilar's parents have focused on ensuring the disease does not define her childhood.