Table 1 Classification of EB types and subtypes
From: Physiotherapy for epidermolysis bullosa: clinical practice guidelines
Major EB types | EB subtypes | Main problems and common areas affected that can lead to functional limitations |
|---|---|---|
EB simplex (EBS) | Localized | Blistering appears at birth or early infancy; mainly appears on hands and feet; plantar keratoderma results in pain, leading to inactivity and indirectly to obesity and dependence on mobility devices |
Intermediate | Blistering appears at birth; generalized but less severe; development of plantar keratoderma; Cardiomyopathy in EBS is a feature only seen in KLHL24 deficiency; Muscular dystrophy in EBS is a feature of EBS with plectin deficiency/PLEC mutations | |
Severe | Blistering appears at birth and the skin is noticeably fragile; widespread large blisters with minimal trauma, ulcerated areas on hands and feet and the oral mucosa can also be affected; development of plantar keratoderma; neonatal complications can be life threatening in the first year of life | |
Junctional EB (JEB) | Intermediate | Blistering is generalized but less severe; with possible development of chronic granulation tissue; development of plantar keratoderma |
Severe | Infrequent blistering in neonatal period, though wounds can become chronic, hypergranulated, friable and persistently large; laryngeal mucosa is affected and life threatening airway obstruction can occur; dependence on respiratory therapy; death usually occurs in first 24 months of life | |
Dystrophic EB (DEB) | Localized Dominant DEB (DDEB) | Skin usually fragile from birth or early childhood, but limited to certain areas of fingers, nails, toes, and shins |
Intermediate DDEB | Skin fragility, scarring and milia are generalized and present from birth; mild flexion contracture can occur as can web space fusion; esophageal blistering is common and corneal erosions | |
Intermediate Recessive DEB (RDEB) | More severe symptoms than DDEB; mucosal involvement, though is not very common | |
Severe RDEB | Widespread blistering from birth with marked fragility; frequent occurrence of aplasia cutis, with the potential for contracture formation; progressive pseudosyndactyly at fingers and toes and flexion contractures are common, eventually leading to mitten deformities; scarring can lead to microstomia which can result in dental issues; esophageal blistering and strictures are common; anemia and inflammation are common as is osteopenia, osteoporosis and vertebral fracture; squamous cell carcinoma | |
Kindler EB (KEB) | Generalized blistering with a tendency to affect extremities; blistering decreases with age; squamous cell carcinoma |