Skin that blisters at the lightest touch can sound unimaginable, but for those living with Epidermolysis Bullosa (EB), it is a daily reality. EB is a rare genetic condition in which the skin is extremely fragile, making even simple actions like holding a pen or putting on clothes a potential trigger for painful blisters and wounds.
Explaining the condition, Dr Vijaya Gowri Bandaru, consultant dermatologist at Apollo Hospitals, Jubilee Hills, says, “EB is a rare genetic disorder in which the skin becomes extremely fragile, leading to blisters and wounds even after minor friction or trauma. It is broadly classified into three major types: simplex, junctional and dystrophic depending on the depth of skin involvement. From a pulmonologist’s viewpoint, it is important to note that in more severe forms, especially junctional and dystrophic EB, internal linings such as the mouth, throat and even the respiratory tract can be affected. This can cause breathing difficulties, recurrent chest infections and airway narrowing, making respiratory monitoring an essential part of care.”
Managing EB, Dr Vijaya notes, revolves around gentle and meticulous wound care. She explains, “Gentle wound care is the cornerstone of EB management. Blisters should be drained using sterile techniques to prevent them from enlarging. Non-adhesive dressings, soft silicone sheets and antibiotic ointments are commonly used to protect open areas and prevent infection. From a respiratory health angle, preventing skin and mucosal infections is critical, as repeated infections can weaken overall immunity and increase the risk of chest complications. Good hygiene, timely treatment of infections and coordination between dermatologists and pulmonologists play a vital role.”
Diagnosis, meanwhile, relies on more than what the eye can see. Dr Sherin Jose, consultant dermatologist at Yashoda Hospitals, Hyderabad, explains that doctors consider clinical features, family history, and specialised tests. “The diagnosis of Epidermolysis Bullosa (EB) is made using a combination of clinical examination, family history, and specific testing that examines the location and mechanism of skin blisters. To determine the precise skin layer and proteins impacted, a skin biopsy from a recent blister is frequently examined using methods like immunofluorescence mapping or electron microscopy. Since genetic testing identifies the precise gene mutation and aids with prognosis, family planning, and clinical trial eligibility, it is currently regarded as the most reliable method for confirming EB and its subtype. Genetic testing is typically advised by dermatologists in all suspected cases of EB, particularly in babies, when the condition is mild to severe, or when there is a positive family history,” she says.
Pain and itching are often constant companions for EB patients. Dr Vijaya explains, “Pain management includes topical anaesthetics, oral painkillers and, in severe cases, opioid medications under medical supervision. Antihistamines and soothing emollients help control itching. Nutritional supplements are often advised to improve wound healing. For patients with airway involvement, inhalation therapy, humidified air, and treatment of recurrent respiratory infections become equally important. A multidisciplinary approach ensures both skin and lung-related symptoms are addressed together.”
Dr Sherin says rapidly spreading blisters, signs of infection, feeding difficulties in babies, breathing trouble or sudden fatigue should never be ignored. “If blisters or wounds exhibit symptoms of infection, such as rising redness, warmth, swelling, pus, an unpleasant odour, or fever, families should seek immediate medical attention. Blisters that spread quickly, abrupt increases in discomfort, or wounds that either stop healing or are very deep are additional indicators that EB is getting worse. Red flags in babies with EB that require prompt medical attention include difficulty feeding, low weight gain, dehydration, decreased urine output, or severe agitation. Internal involvement may be indicated by swallowing difficulties, new hoarseness, breathing difficulties, or redness and pain in the eyes; these symptoms should be addressed immediately. In a known EB patient, any abrupt decline in activity level, lethargy, or unexplained anaemia should also elicit quick assessment,” she explains.
Living with Epidermolysis Bullosa is never easy, but timely care, gentle routines and the right medical support can make a real difference. With growing awareness, coordinated treatment and promising research, families today have more guidance, hope and strength to face each day with confidence.