Epidermolysis bullosa

Case history #1

A full-term baby is born with widespread blisters and erosions of the skin. Handling of the baby by the nursing staff causes tearing of the skin. Neither parent has a history of skin disease. The baby’s parents are first cousins. Over the next few days, additional blisters occur on the skin and within the mouth, and the child feeds poorly.

Case history #2

A 25-year-old woman presents for evaluation of a tender, red, scaly nodule on her arm. She has a lifelong history of fragile skin, blisters, and scarring, but no family history of a blistering disease. She is short-statured, weighs <41 kg (90 pounds), and has mitten deformities of her hands and feet. There is widespread scarring of the skin and scalp, with partial alopecia. Her mouth is small and she is unable to project the tongue beyond her lips. Many of her teeth are carious or absent.

Other presentations

Inherited epidermolysis bullosa (EB), particularly severe subtypes such as EB simplex (EBS)-severe, and generalized forms of junctional EB (JEB) and recessive dystrophic EB (RDEB), usually presents with blisters and erosions at or shortly after birth. Milder subtypes may not be clinically apparent for weeks or months after birth. More severe subtypes develop milia, dystrophic or absent nails, atrophic scarring, and/or focal post-inflammatory hyper- or hypopigmentation. A pathognomonic cutaneous feature of JEB, severe (JEB-sev) is the presence of exuberant granulation tissue in symmetric periorificial array, as well as along the neck and proximal nail folds.

In milder subtypes (i.e., localized EBS [EBS-loc]) only focal blistering may be present. Common distributions of lesions on the skin in inherited EB include both generalized and localized patterns (e.g., palms and soles in EBS-loc). Inverse (i.e., intertriginous), acral, and centripetal distributions occur less commonly. Some EB subtypes may have extracutaneous features, such as muscular dystrophy, interstitial lung disease and nephrotic syndrome, cardiac dysfunction, acral deformities, and pyloric atresia.