Table I.
Genetic subtypes and demographic data of study cohort
| Genetic subtype | |||
|---|---|---|---|
| Disease name | OMIM | Patients n (%) | 25(OH)3D (ng/ml) Median |
| Ichthyosis vulgaris | IV [146700] | 10 (11.5) | 19.7 |
| X-linked ichthyosis | XLI [308100] | 8 (9.2) | 13.9 |
| ARCI | ARCI | 30 (34.5)* | |
| LI | 8.9 | ||
| ARCI due to ALOX12B mutations | 3 | ||
| ARCI due to NIPAL4 mutations | 7 | ||
| ARCI due to PNPLA1 mutations | 3 | ||
| ARCI unclassified (TG1-proficient) | 2 | ||
| ARCI due to TG1 deficiency | 12 (13.8) | 11.7 | |
| CIE | 12.4 | ||
| ARCI due to ALOXE3 mutations | 5 | ||
| ARCI due to CYP4F22 mutations | 2 | ||
| ARCI unclassified (TGl-proficient) | 6 | ||
| HI | 7.0 | ||
| ARCI due to ABCA12 mutations | 2 | ||
| Netherton syndrome | NTS [256500] | 7 (8.0) | 10.7 |
| Miscellaneous | 3 (3.5) | 7.0 | |
| Keratitis ichthyosis deafness | KID [602450, 148210] | 1 | |
| KLICK syndrome | KLICK [601952] | 1 | |
| Peeling skin disease | PSS1 [270300] | 1 | |
| Keratinopathic ichthyosis (KPI) | 17 (19.5) | 10.5 | |
| EI (KRT10 mutations) | EI [113800] | 5 | |
| EI (KRT1 mutations) | 1 | ||
| SEI (KRT2 mutations) | SEI [146800] | 1 | |
| KPI unclassified | 10 | ||
| Age: median 18 years (1–86) | |||
| Sex: 48 females, 39 males | |||
Four clinical subgroups (group 1: mild ichthyoses: ichthyosis vulgaris (IV), X-linked ichthyosis (XLI); group 2: lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE), Harlequin ichthyosis (Hi), including transglutaminase 1 (TG1)-deficient and proficient autosomal recessive congenital ichthyosis (ARCI) patients; group 3: Netherton syndrome (NTS) and other syndromic and rare subtypes; group 4: keratinopathic ichthyosis (KPI)).
This number excludes TGl-deficient ARCI.
EI: epidermolytic ichthyosis; KID: keratitis-ichthyosis-deafness syndrome; KLICK: keratosis linearis with ichthyosis congenita and sclerosing keratoderma; PSS1: peeling skin syndrome 1; SEI: superficial epidermolytic ichthyosis.