Generalized severe epidermolysis bullosa simplex in Child
Extracutaneous complications may accompany EBS-gen/sev, most notably oral cavity blistering. Some patients with EBS-gen/sev may develop some partial contractures of the arms and legs, and a few have been reported to develop progressive, potentially life-threatening occlusion of the upper airway as a result of repeated blistering at or above the level of the vocal cords, analogous to what occurs in infants and small children with junctional EB. Growth retardation and anemia are uncommon findings in children with EBS-gen/sev. Most patients with EBS-gen/sev live a normal lifespan, although a minority of the most severely affected dies during early infancy, presumably from overwhelming sepsis or failure to thrive.
For more information, see OMIM.
Related topics: Dystrophic epidermolysis bullosa, Kindler syndrome, Epidermolysis bullosa acquisita
Q81.0 – Epidermolysis bullosa simplex
254179000 – Dowling-Meara epidermolysis bullosa
In the newborn period, however, it is oftentimes impossible to clinically distinguish among any of even the three major EB subtypes (ie, simplex, junctional, and dystrophic) in the absence of appropriate laboratory data. Of particular note, with the rarest exceptions, the use of three common cutaneous findings (scarring, milia, and nail dystrophy) as a means of distinguishing among the these three major EB types is dangerous, since the presence or absence of any of all of these three findings still yields insufficiently high sensitivity and specificity to allow for the reliable classification and subclassification of these patients. As such, specialized diagnostic laboratory testing is mandatory in all cases of EB unless confirmatory testing has already been successfully done on another affected member of the same kindred.
A large differential diagnosis for inherited EB can be generated in young children having vesicles or bullae on their skin. Some of the following may, however, be rather readily dismissed by the more experienced dermatologist on the basis of personal and family history and close inspection of the entire skin surface. This differential diagnosis may include but is not limited to:
- 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 (chemical and thermal burns)
- Autoimmune bullous diseases (to include bullous pemphigoid, cicatricial pemphigoid, EB acquisita, and chronic bullous dermatosis of childhood [linear IgA dermatosis])