Symptoms of Epidermolysis Bullosa (EB) are typically distinct, including fragile skin, chronic blistering, and poor wound healing. However, despite its visible nature, accurately diagnosing EB can be complex.
Different subtypes may look similar, particularly in infancy, and can leading to frequent misclassification. An accurate diagnosis informs appropriate medical care, access to specialized support, and a path forward.
Clinical Evaluation
Diagnosis typically begins with a clinical examination and detailed medical history. A healthcare provider will assess the skin for signs like blistering, milia (tiny white bumps), thickened skin on hands or feet (keratoderma), nail loss, oral or eye involvement, and wound healing patterns. The age of onset, severity, and distribution of symptoms can help point toward a specific EB type.
Genetic Testing
Genetic testing is the gold standard for diagnosing all forms of EB. It identifies mutations in genes responsible for the structural proteins of the skin, such as:
- KRT5 or KRT14 in EB Simplex (EBS)
- COL7A1 in Dystrophic EB (DEB)
- LAMA3, LAMB3, or LAMC2 in Junctional EB (JEB)
- PLEC in some EBS subtypes and EB with muscular dystrophy
Genetic testing confirms the diagnosis, determines the EB type and subtype, informs care decisions, and supports family planning. In partnership with Krystal Biotech, there is currently free genetic testing though Prevention Genetics Lab.
Skin Biopsy
In some cases, a skin biopsy may be performed, especially when genetic results are delayed or unclear. Techniques such as immunofluorescence mapping (IFM) or electron microscopy (EM) help pinpoint the level of skin separation and the proteins affected, offering clues to the EB subtype.
Importance of Early Diagnosis
Early diagnosis is vital. It allows for prompt wound care planning, nutritional and feeding support, pain and infection management, and access to specialist care. It also helps families understand the expected course of the condition and connect with resources for emotional and practical support.
