Version May 2024
| Disease | Mode of inheritance | Gene(s) |
| Common ichthyoses* | ||
| Ichthyosis vulgaris | Autosomal semidominant | FLG |
| Recessive X-linked (nonsyndromic presentation) | X-linked recessive | STS |
| Autosomal recessive congenital ichthyosis (ARCI) | ||
| Major types | ||
| Harlequin ichthyosis | Autosomal recessive | ABCA12 |
| Lamellar ichthyosis¶ | TGM1/NIPAL4Δ/ALOX12B/ABCA12/loci on 12p11.2-q13 | |
| Congenital ichthyosiform erythroderma | ALOXE3/ALOX12B/ABCA12/CYP4F22/NIPAL4Δ/TGM1/loci on 12p11.2-q13 | |
| Minor variants | ||
| Self-healing collodion baby | Autosomal recessive | TGM1, ALOX12B, ALOXE3 |
| Acral self-healing collodion baby | TGM1 | |
| Bathing suit ichthyosis | TGM1 | |
| Keratinopathic ichthyosis (KPI) | ||
| Major types | ||
| Epidermolytic ichthyosis◊ | Autosomal dominant | KRT1/KRT10 |
| Superficial epidermolytic ichthyosis | KRT2 | |
| Minor variants | ||
| Annular epidermolytic ichthyosis◊ | Autosomal dominant | KRT1/KRT10 |
| Ichthyosis Curth-Macklin | KRT1 | |
| Autosomal recessive epidermolytic ichthyosis | Autosomal recessive | KRT10 |
| Epidermolytic nevi§ | Somatic mutations | KRT1/KRT10 |
| Other forms | ||
| Loricrin keratoderma | Autosomal dominant | LOR |
| Erythrokeratodermia variabilis¥ | GJB3/GJB4 | |
| Peeling skin syndrome | Autosomal recessive | TGM5, CSTA, CHST8, SERPINB8, FLG2, CDSN |
| Congenital reticular ichthyosiform erythroderma | Autosomal dominant (?) (isolated cases) | Locus unknown |
| Keratosis linearis-ichthyosis congenita-keratoderma | Autosomal recessive | POMP |
* Often delayed onset (in recessive X-linked ichthyosis, mild scaling and erythroderma may be present already at birth).
¶ Few cases of autosomal dominant lamellar ichthyosis described in literature (locus unknown).
Δ Also known as ICHTHYIN gene.
◊ KRT1 mutations are often associated with palmoplantar involvement.
§ May indicate gonadal mosaicism, which can cause generalized epidermolytic ichthyosis in offspring generation.
¥ Whether progressive symmetric erythrokeratodermia represents distinct Mendelian disorders of cornification form is debated.آیا می خواهید مدیلیب را به صفحه اصلی خود اضافه کنید؟
