| GENETISCHE CLASSIFICATIE VAN EPIDERMAL DIFFERENTIATION DISORDERS |
ICD10:
n.v.t. |
| GENETISCHE CLASSIFICATIE VAN EPIDERMAL DIFFERENTIATION DISORDERS |
ICD10:
n.v.t. |
| Proteïne: | Nieuwe naam: | Oude naam: | OMIM: |
|---|---|---|---|
| Fillagrin | FLG-nEDD | Ichthyosis vulgaris | 146700 |
| Keratin 1 | KRT1-nEDD-epidermolytic | Epidermolytic ichthyosis, bullous congenital ichthyosiform erythroderma, epidermolytic hyperkeratosis | 113800 |
| Keratin 1 | KRT1-nEDD-nonepidermolytic | Epidermolytic ichthyosis | 113800 |
| Keratin 1 | KRT1-nEDD-spiny | Ichthyosis histrix, Curth-Macklin type | 146590 |
| Keratin 1 | KRT1-nEDD-annular | Annular epidermolytic ichthyosis | 620148 |
| Keratin 10 | KRT10-nEDD-epidermolytic | Epidermolytic ichthyosis, bullous congenital ichthyosiform erythroderma, epidermolytic hyperkeratosis | 620150 |
| Keratin 10 | KRT10-nEDD-nonepidermolytic | Epidermolytic ichthyosis | 620150 |
| Keratin 10 | KRT10-nEDD-spiny | Ichthyosis histrix, Lambert type | 146600 |
| Keratin 10 | KRT10-nEDD-annular | Annular epidermolytic ichthyosis | 607602 620150 |
| Keratin 2 | KRT2-nEDD | Superficial epidermolytic ichthyosis | 146800 |
| Keratin 1 | KRT1-nEDD-mosaic | Epidermolytic naevus | 113800 |
| Keratin 2 | KRT2-nEDD-mosaic | Epidermolytic naevus | 146800 |
| Keratin 10 | KRT10-nEDD-mosaic | Epidermolytic naevus | 620150 |
| Keratin 16 | KRT16-nEDD-mosaic | Epidermolytic naevus | 148067 |
| Keratin 83 | KRT18-nEDD | Erythrokeratodermia variabilis et progressiva | 617756 |
| Keratin 1 | KRT1-nEDD-revertant mosaic | Ichthyosis with confetti | 113800 |
| Keratin 10 | KRT10-nEDD-revertant mosaic | Ichthyosis with confetti | 609165 |
| Desmosome: p53/p63 tetraspan plasma membrane protein (PERP) |
PERP-nEDD-AR | Erythrokeratodermia variabilis et progressiva | 619209 |
| Corneodesmosome: corneodesmosin |
CDSN-nEDD | Peeling skin syndrome | 270300 |
| Fillagrin 2 | FLG2-nEDD | Peeling skin syndrome | 618084 |
| Cornified cell envelope: cystatin A |
CSTA-nEDD | Peeling skin syndrome | 607936 |
| Sulfotransferase family 2B member 1 (SULT2B1) | SULT2B1-nEDD | Lamellar ichthyosis, CIE, ARCI | 617571 |
| Mevalonate pyrophosphate decarboxylase (MVD) | MVD-nEDD |
Porokeratosis, Disseminated (superficial) actinic porokeratosis, Linear porokeratosis, Porokeratosis of Mibelli |
603236 |
| Mevalonate kinase (MVK) | MVK-nEDD | 175900 | |
| Phosphomevalonate kinase (PMVK) | PMVK-nEDD | 175800 | |
| Farnesyl diphosphate synthetase (FDPS) | FDPS-nEDD | 134629 | |
| Solute carrier family 17 member 9 (SLC17A9) | SLC17A9-nEDD | 616063 | |
| Farnesyl diphosphate farnesyl transferase 1 (FDFT1) | FDFT1-nEDD | 184420 | |
| 12R-lipoxygenase (12R-LOX) | ALOX12B-nEDD | Lamellar ichthyosis, CIE, ARCI | 242100 |
| Epidermal type lipoxygenase 3 (eLOX3) | ALOXE3-nEDD | Lamellar ichthyosis, CIE, ARCI | 606545 |
| Cytochrome P450 family 4, subfamily F, polypeptide 22 (CYP4F22) | CYP4F22-nEDD | Lamellar ichthyosis, CIE, ARCI | 604777 |
| Lipase family member N (LIPN) | LIPN-nEDD | Lamellar ichthyosis, CIE, ARCI | 613943 |
| Ceramide synthetase 3 | CERS3-nEDD | Lamellar ichthyosis, CIE, ARCI | 615023 |
| Patatin-like phospholipase domain containing 1 (PNPLA1) | PNPLA1-nEDD | Lamellar ichthyosis, CIE, ARCI | 615024 |
| Short chain dehydrogenase / reductase family 9C member 7 (SDR9C7) | SDR9C7-nEDD | Lamellar ichthyosis, ARCI | 617574 |
| NTPase KAP family P-loop domain containing protein 1 (NKPD1) | NKPD1-nEDD | Autosomal dominant lamellar ichthyosis | - |
| 3-Ketodihydro-sphingosine reductase (KDSR) | KDSR-nEDD | Erythrokeratodermia variabilis et progressiva, Periopter syndrome | 617526 |
| ATP-binding cassette transporter family A member 12 (ABCA12) | ABCA12-nEDD | Harlequin ichthyosis, ARCI, CIE, erythrokeratodermia variabilis et progressiva | 607800 |
| Magnesium transporter NIPA4 isoform 1 (NIPAL4) | NIPAL4-nEDD | Lamellar ichthyosis, CIE, ARCI | 612281 |
| Solute carrier family 27 member 4 (fatty acid transporter protein) | SLC27A4-nEDD | Ichthyosis prematurity syndrome | 608649 |
| Serpin family B member 8 (SERPINB8) | SERPINB8-nEDD | Peeling skin syndrome | 617115 |
| Transglutaminase 1 | TGM1-nEDD | Lamellar ichthyosis, CIE, ARCI, self-healing collodion baby, bathing suit ichthyosis | 242300 |
| Transglutaminase 5 | TGM5-nEDD | Acral peeling skin syndrome | 609796 |
| Caspase 14 | CASP14-nEDD | Lamellar ichthyosis, ARCI | 617320 |
| Retroviral-like aspartic protease 1 (ASPRV1) | ASPRV1-nEDD | Autosomaal dominant lamellar ichthyosis | 146750 |
| Kallikrein-11 | KLK11-nEDD | Autosomal dominant cornification disorder | 620507 |
| Gap junction protein, connexin 31 | GBJ3-nEDD | Erythrokeratodermia variabilis et progressiva | 133200 |
| Gap junction protein, connexin 30.3 | GBJ4-nEDD | Erythrokeratodermia variabilis et progressiva | 617524 |
| Gap junction protein, connexin 43 | GBA1-nEDD | Erythrokeratodermia variabilis et progressiva | 617525 |
| Secretary pathway Ca2+ ATPase1 (SPCA1) | ATP2C1-nEDD | Hailey-Hailey disease (chronic benign familial pemphigus) | 169600 |
| Sarcoplasmic reticulum Ca2+ ATPase2 (SERCA2) | ATP2A2-nEDD | Darier-White disease (keratosis follicularis) | 124200 |
| Transient receptor potential cation channel subfamily M member 4 (TRPM4) | TRPM4-nEDD | Erythrokeratodermia variabilis et progressiva | 618531 |
| Caspase recruitment domain-containing protein 14 (CARD14) | CARD14-nEDD | CARD14-associated papulosquamous eruption, pityriasis rubra pilaris type V | 173200 |
| Protease maturation protein (POMP) | POMP-nEDD | KLICK syndrome | 601952 |
| 1. | Hernández-Martín Á, Paller AS, Sprecher E, Akiyama M, Granier Tournier C, Aldwin-Easton M, Bodemer C, Choate K, Fischer J, Gostynski A, Hovnanian A, Ishida-Yamamoto A, O'Toole EA, Schmuth M, Schwartz J, Tadini G, Teng J, Mazereeuw-Hautier J. A proposal for a new pathogenesis-guided classification for inherited epidermal differentiation disorders. Br J Dermatol 2025;193(3):544-548. PDF |
| 2. | Akiyama M, Choate K, Hernández-Martín Á, Aldwin-Easton M, Bodemer C, Gostyński A, Hovnanian A, Ishida-Yamamoto A, Malovitski K, O'Toole EA, Paller AS, Schmuth M, Schwartz J, Sprecher E, Teng JMC, Granier Tournier C, Mazereeuw-Hautier J, Tadini G, Fischer J. Nonsyndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy. Br J Dermatol 2025;193(4):619-641. PDF |
| 3. | Paller AS, Teng J, Mazereeuw-Hautier J, Hernández-Martín Á, Granier Tournier C, Hovnanian A, Aldwin-Easton M, Tadini G, Schwartz J, Sprecher E, Malovitski K, Ishida-Yamamoto A, Choate K, Akiyama M, O'Toole EA, Fischer J, Bodemer C, Gostynski A, Schmuth M. Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy. Br J Dermatol. 2025;193(4):592-618. PDF |
| 4. | Sprecher E, Ishida-Yamamoto A, Schwartz J, Akiyama M, Aldwin-Easton M, Choate K, Fischer J, Gostyński A, Granier Tournier C, Hernández-Martín Á, Hovnanian A, Malovitski K, Mazereeuw-Hautier J, Paller AS, Schmuth M, Tadini G, Teng J, Bodemer C, O'Toole EA. Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy. Br J Dermatol. 2025;193(3):364-380. PDF |
| 05-01-2026 (JRM) - www.skin-diseases.eu |
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