Epidermolysis bullosa simplex in Infant/Neonate
EB simplex is the most common form of EB. It is most often caused by mutations within the genes encoding for keratins-5 and -14, with the vast majority being autosomal dominantly transmitted. There are two major types of EB simplex, basilar and suprabasilar, based on the ultrastructural site within which blisters arise. Most subtypes are basilar. On the basis of collective clinical findings, in conjunction with ultrastructural and molecular data, basilar EB simplex is further divided into three main subtypes. (1) Localized EB simplex (EBS loc; formerly known as EB simplex Weber-Cockayne), the mildest EB simplex subtype, is associated with blisters primarily limited to the palms and soles. (2) Generalized severe EB simplex (EBS-gen/sev; formerly known as EB simplex Dowling-Meara [EBS-DM] and EB simplex herpetiformis) is a severe subtype characterized by widespread blistering, herpetiform or arcuate grouping of blisters, possible internal organ involvement (to rarely include the upper airway), and the potential for death in the neonatal period. And (3) generalized EB simplex, other (EBS-O), is an EB simplex subtype having more widespread cutaneous involvement than EBS loc but little or no extracutaneous disease activity.
In the mildest cases of EB simplex, first signs may not develop until the child begins to walk or crawl, whereas large bullae and erosions are usually present at birth or within the first days of life in infants having a generalized EB simplex subtype. All forms of EB simplex worsen in hot, humid environments, and most improve with age. Treatment is supportive.
There are some patients with a dominant mutation that promotes ubiquitination and excessive proteolysis of KRT14.
For more information, see OMIM.
Related topic: Epidermolysis bullosa acquisita
Q81.0 – Epidermolysis bullosa simplex
67144006 – Epidermolysis bullosa simplex
- Sucking blisters
- Bullous impetigo
- Staphylococcal scalded skin syndrome (SSSS)
- Congenital or neonatal herpes simplex or varicella infection
- Aplasia cutis
- Other forms of inherited EB (EBS-gen/sev, dystrophic EB, and junctional EB).
On the basis of history and clinical findings, other conditions that may need to be considered in childhood include but are not limited to the following: