Oral Manifestations in the Epidermolysis Bullosa Spectrum

The craniofacial and oral manifestations of the different epidermolysis bullosa (EB) types vary markedly in character and severity depending largely on the EB type. The tissues affected and the phenotypes displayed are closely related to the specific abnormal or absent proteins resulting from the causative genetic mutations for these disorders. In this article, the major oral manifestations are reviewed for different EB subtypes and are related to the causative genetic mutations and gene expression.

Epidermolysis bullosa (EB) represents a spectrum of conditions characterized by blistering and mechanical fragility of the skin. There is tremendous genetic heterogeneity and marked variation in clinical phenotypes in the multiple EB disorders. The most recent classification recognizes four major EB groupings and more than 30 EB subtypes. The four major EB groups include intraepidermal EB (simplex), junctional EB, dermolytic EB (dystrophic), and mixed EB (Kindler syndrome). The molecular basis is now known for 13 of EB subtypes. Depending on the specific EB type there can be significant morbidity involving the soft and hard tissues of the craniofacial complex ( Table 1 ).

Table 1

Oral manifestations in common epidermolysis bullosa subtypes

EB Type	OMIM no.	Oral Blistering	Oral Scarring	Microstomia	Enamel Defects
Simplex
Localized	#131800	+	−	−	−
Generalized	#131900	+	−	−	−
Dowling-Meara	#131760	+	±	−	−
Junctional
Non-Herlitz	#226650	+	−	−	++
Herlitz	#226700	+	− ^∗	+	++
Dystrophic
Dominant	#131750	+	±	−	±
Recessive	#226600	++	++	++	−
Kindler
Kindler Syndrome	#173650	+	+	+