Table 1 Brief overview of common ichthyoses and the underlying gene mutations
From: New developments in the molecular treatment of ichthyosis: review of the literature
Name | Gene mutation |
|---|---|
Non-syndromic | |
 Common | |
  Ichthyosis vulgaris | FLG |
  X-linked recessive ichthyosis | STS |
 Autosomal recessive congenital ichthyosis | |
  Lamellar ichthyosis—Congenital ichthyosiform erythroderma spectrum | ABCA12, ALOXE3, ALOX12B, CASP14, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7, ST14, SUBLT2B1, TGM1 |
  Harlequin ichthyosis | ABCA12 |
  Bathing suit ichthyosis | TGM1 |
 Keratinopathic ichthyoses | |
  Epidermolytic ichthyosis | KRT1, KRT10 |
  Superficial epidermolytic ichthyosis | KRT2 |
  Congenital reticular ichthyosiform erythroderma | KRT1, KRT10 |
 Other | |
  Peeling skin syndrome type 1 | CDSN |
Syndromic | |
 Netherton syndrome | SPINK5 |
 Sjögren–Larsson syndrome | ALDH3A2 |
 Severe skin dermatitis, multiple allergies and metabolic wasting syndrome | DSG1, DSP |
 Keratitis-ichthyosis-deafness syndrome | GJB2, AP1B1 |