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

From: Inherited epidermolysis bullosa

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
  1. DEJ = dermoepidermal junction
  2. * 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.
  3. Modified from Fine J-D et al, 2008 (reference [3]); refer to that reference for less frequent findings
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172