Table 7.

Genes of Interest in the Differential Diagnosis of Epidermolysis Bullosa Simplex

Level of Skin
Cleavage		GeneMOIPhenotype(s) / Comment
Epidermolysis
bullosa (EB) 		Junctional COL17A1 AR JEB
ITGA3 AR JEB
ITGA6 ARJEB; JEB-PA
ITGB4 ARJEB; JEB-PA
LAMA3 AR JEB
LAMB3 AR JEB
LAMC2 AR JEB
Dermal COL7A1 AD, AR DEB
Mixed FERMT1 AR Kindler syndrome
Other disorders
w/skin fragility 		Intra-
epidermal 		CAST ARPLACK syndrome
CDSN ARGeneralized inflammatory skin peeling syndrome
CSTA ARAcral peeling skin disease
CTSB ADKeratolytic winter erythema
DSC3 ARHypotrichosis w/recurrent skin vesicles
DSG1 ARSAM syndrome
DSG3 ARAcantholytic blisters in oral & laryngeal mucosa
DSP ARAcantholytic erosive disorder
ADSAM syndrome
ARSkin fragility-woolly hair syndrome
FLG2 ARGeneralized peeling skin syndrome (noninflammatory)
JUP ARAcantholytic erosive disorder; skin fragility-woolly hair syndrome
KRT1 AD, AREpidermolytic ichthyosis
ADAnnular epidermolytic ichthyosis
KRT10 AD, AREpidermolytic ichthyosis
ADAnnular epidermolytic ichthyosis
KRT16 AD Pachyonychia congenita-K16
KRT17 AD Pachyonychia congenita-K17
KRT2 ADSuperficial epidermolytic ichthyosis
KRT6A AD Pachyonychia congenita-6A
KRT6B AD Pachyonychia congenita-6B
KRT6C AD Pachyonychia congenita-6C
PKP1 AREctodermal dysplasia-skin fragility syndrome
SERPINB8 ARExfoliative ichthyosis
SPINK5 ARNetherton syndrome
TGM5 ARAcral peeling skin disease
Dermal PLOD3 ARConnective tissue disorder w/skin fragility

Adapted from Tables 1 and 2 in Has et al [2020a]

AD = autosomal dominant; AR = autosomal recessive; DEB = dystrophic epidermolysis bullosa; EB = epidermolysis bullosa; JEB-PA = junctional epidermolysis bullosa with pyloric atresia; MOI = mode of inheritance

From: Epidermolysis Bullosa Simplex

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