Generalized severe epidermolysis bullosa simplex in Adult
In EBS-gen/sev, generalized blistering occurs, often with blisters in a grouped, herpetiform, arcuate, or serpiginous pattern. The oral mucosa is commonly involved during early infancy or the neonatal period, making feeding difficult. Localized atrophic scarring, milia, and nail dystrophy are commonly seen, especially as the child gets older, that may resemble dystrophic EB. In late childhood, repeated blistering of the palms and soles leads to the development of keratoderma, a characteristic finding. As in all other types and subtypes of inherited EB, blistering worsens during warmer weather. Curiously, EBS-gen/sev patients may have temporary improvement in skin disease activity during periods of high fever. Some patients with EBS-gen/sev may experience improvement in blister activity during mid-adulthood, and rarely some of these keratodermas may partially regress.
Extracutaneous complications often include blistering of the oral cavity. Progressive, potentially life-threatening occlusion of the upper airway as a result of repeated blistering at or above the level of the vocal cords has been reported. Contractures of the arms and legs may be seen as well as growth retardation and anemia, although the latter are uncommon. Most patients with EBS-gen/sev live a normal lifespan, with a minority of the most severely affected dying during early infancy from overwhelming sepsis or failure to thrive. Squamous cell carcinoma appears to be less of a concern in patients with EBS than in other forms of EB.
Related topics: Kindler syndrome, EB acquisita, junctional EB
Q81.0 – Epidermolysis bullosa simplex
90496008 – Generalized epidermolysis bullosa simplex
Differential Diagnosis & Pitfalls
However, in the newborn period, it is often impossible to clinically distinguish among any of the 3 major EB subtypes (ie, simplex, junctional, and dystrophic).
This differential diagnosis may include:
- Other types and subtypes of inherited EB (EB simplex, dystrophic EB, junctional EB, Kindler syndrome)
- Incontinentia pigmenti
- Epidermolytic ichthyosis
- Bullous impetigo
- Staphylococcal scalded skin syndrome
- EEC syndrome (ectrodactyly-ectodermal dysplasia-cleft lip / palate)
- AEC syndrome (ankyloblepharon-ectodermal defects-cleft lip / palate)
- Neonatal or congenital varicella or herpes simplex virus (HSV)
- Erythropoietic protoporphyria and other cutaneous porphyrias
- Acrodermatitis enteropathica
- Bullous mastocytosis
- Child abuse and other forms of skin trauma (see, eg, chemical and thermal burns)
- Autoimmune bullous diseases (including bullous pemphigoid, cicatricial pemphigoid, EB acquisita, and chronic bullous dermatosis of childhood [linear IgA dermatosis])