Level of skin cleavage | Disorder name | Inheritance | Mutated gene(s) | Targeted protein(s) |
Peeling skin disorders | ||||
Intraepidermal | Peeling skin disorders | Autosomal recessive | TGM5 | Transglutaminase 5 |
CSTA | Cystatin A | |||
CTSB | Cathepsin B | |||
SERPINB8 | Serpin protease inhibitor 8 | |||
FLG2 | Filaggrin 2 | |||
CDSN | Corneodesmosin | |||
CAST | Calpastatin | |||
DSG1* | Desmoglein 1 | |||
SPINK5 | LEKTI | |||
Erosive disorders | ||||
Intraepidermal | Erosive skin fragility disorders | Autosomal recessive | DSP | Desmoplakin |
JUP | Plakoglobin | |||
PKP1 | Plakophilin 1 | |||
DSC3 | Desmocollin 3 | |||
DSG3 | Desmoglein 3 | |||
Hyperkeratotic disorders with skin fragility | ||||
Intraepidermal | Keratinopathic ichthyoses | Autosomal dominant | KRT1, KRT10, KRT2 | Keratin 1, 10, 2 |
Autosomal recessive | KRT10 | Keratin 10 | ||
Pachyonychia congenita | Autosomal dominant | KRT6A, KRT6B, KRT6C, KRT16, KRT17 | Keratin 6A, 6B, 6C, 16, 17 | |
Connective tissue disorder with skin fragility | ||||
Dermal | Syndromic connective tissue disorder with skin fragility | Autosomal recessive | PLOD3 | Lysyl hydroxylase 3 |
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