Inherited epidermolysis bullosa

Table 4 Diagnostically useful differences in antigenic staining in selected EB subtypes

Common antigens	Abnormal staining in	Typical pattern of staining
Keratin 5	---	normal filamentous network within keratinocytes
Keratin 14	EBS, autosomal recessive	absent or markedly reduced staining of filaments within keratinocytes
Laminin-332 (laminin-5)	JEB-H	absent or markedly reduced staining along the DEJ
	JEB-nH *	reduced staining along the DEJ
Type XVII collagen	JEB-nH *	reduced or absent staining along the DEJ
Type VII collagen	RDEB, severe generalized	usually absent staining along the DEJ
	RDEB, generalized other	reduced staining along the DEJ
	RDEB, inversa	variable staining along the DEJ
	Dystrophic EB-BDN (only during periods of active blistering)	granular staining within basal and lower suprabasal keratinocytes; absent or markedly reduced staining along the DEJ
Plectin	EBS with muscular dystrophy; EBS with pyloric atresia; EBS-Ogna	absent or reduced staining along the DEJ; absent or reduced staining along the DEJ; reduced staining along the DEJ
α6β4 integrin	JEB with pyloric atresia; EBS with pyloric atresia	absent or reduced staining along the DEJ; absent or reduced staining along the DEJ
Kindlin-1	Kindler syndrome	absent or reduced staining along the DEJ

DEJ = dermoepidermal junction
* The majority of patients with JEB-nH have mutations in one of the three genes encoding for laminin-332, rather than within the gene for type XVII collagen. Of note, there are usually no phenotypic differences in these two antigenically distinct JEB-nH groups.
Modified from Fine J-D et al, 2008 (reference [3]); refer to that reference for less frequent findings