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Ichthyosis is a family of genetic disorder characterized by Xeroderma, Scleroderma, scaly skin. (2025). 9780323547536, Elsevier. ISBN 9780323547536 The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and mode of inheritance (e.g., dominant, recessive, autosomal or X-linked). Ichthyosis comes , since dry, scaly skin is the defining feature of all forms of ichthyosis.
The severity of symptoms can vary enormously, from the mildest, most common, types such as ichthyosis vulgaris, which may be mistaken for normal dry skin, up to life-threatening conditions such as harlequin-type ichthyosis. Ichthyosis vulgaris accounts for more than 95% of cases.
Ichthyosis caused by mutations in the same gene can vary considerably in severity and symptoms. Some ichthyoses do not appear to fit exactly into any one type while mutations in different genes can produce ichthyoses with similar symptoms. Of note, X-linked ichthyosis is associated with Kallmann syndrome (close to the KAL1 gene). The most common or well-known types are:
| + !Name !OMIM !Mode Of Inheritance !Gene(s) | |||
| Ichthyosis vulgaris | Autosomal semi-dominant | FLG | |
| X-linked recessive ichthyosis | X-linked recessive | STS | |
| Harlequin ichthyosis | Autosomal recessive | ABCA12 | |
| Congenital ichthyosiform erythoderma | Autosomal recessive | TGMI1, NIPAL4, ALOX12B, ALOXE3, ABCA12, CYP4F22, NIPAL4, LIPN, CERS3, PNPLA1, ST14, CASP14 | |
| Lamellar ichthyosis | Autosomal recessive | TGMI1 , NIPAL4, ALOX12B, ALOXE3, ABCA12, CYP4F22, NIPAL4, LIPN, CERS3, PNPLA1, ST14, CASP14 | |
| Self improving congenital ichthyosis | Autosomal recessive | TGM1, ALOX12B, ALOXE3 | |
| Bathing suit ichthyosis | Autosomal recessive | TGMI1 | |
| Epidermolytic ichthyosis | Autosomal dominant | KRT1, KRT10 | |
| Superficial epidermolytic ichthyosis | Autosomal dominant | KRT2 | |
| Annular epidermolytic ichthyosis | Autosomal dominant | KRT1 , KRT10 | |
| Ichthyosis Curth-Macklin | Autosomal dominant | KRT1 | |
| Autosomal recessive epidermolytic ichthyosis | Autosomal recessive | KRT10 | |
| Congenital reticular ichthyosiform erythroderma | Autosomal dominant | KRT1 , KRT10 | |
| Epidermolytic nevi | Postzygotic mosaicism | KRT1 , KRT10 | |
| Loricrin keratoderma | Autosomal dominant | LOR | |
| Erythrokeratodermia variabilis | Autosomal dominant | GJB3, GJB4 | |
| Peeling skin disease | Autosomal recessive | Corneodesmosin | |
| Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | Autosomal recessive | POMP |
| + !Name !OMIM !Mode Of Inheritance !Gene (s) | |||
| X-linked recessive ichthyosis syndromic forms | X-linked recessive | STS | |
| Ichthyosis follicularis with alopecia and photophobia syndrome | X-linked recessive | MBTPS2 | |
| Conradi-Hunermann-Happle syndrome | X-linked dominant | EBP | |
| Netherton syndrome | Autosomal recessive | SPINK5 | |
| Ichthyosis-hypotrichosis syndrome | Autosomal recessive | ST14 | |
| Trichothiodystrophy | Autosomal recessive | ERCC2, XPB, GTF2H5 | |
| Trichothiodystrophy (non-congenital forms) | Autosomal recessive | MPLKIP, TTDN1 | |
| Sjögren-Larsson syndrome | Autosomal recessive | ALDH3A2 | |
| Refsum disease | Autosomal recessive | PHYH, PEX7 | |
| Mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratoderma syndrome | Autosomal recessive | SNAP29 | |
| Arthrogryposis, renal dysfunction, cholestasis syndrome | Autosomal recessive | VPS33B | |
| Keratitis-ichthyosis-deafness syndrome | Autosomal dominant | GJB2 | |
| Neutral lipid storage disease with ichthyosis | Autosomal recessive | ABHD5 | |
| Ichthyosis prematurity syndrome | Autosomal recessive | SLC27A4 | |
| Neu–Laxova syndrome | autosomal recessive | PHGDH, PSAT1 and PSPH |
Ichthyosis has been found to be more common in Native American, Asian, Mongolian groups. There is no way to prevent ichthyosis.
Ichthyosis is a genetically and phenotypically heterogeneous disease that can be isolated and restricted to the skin manifestations or associated with extracutaneous symptoms, one of which is limb reduction defect known as CHILD syndrome, a rare inborn error of metabolism of cholesterol biosynthesis that is usually restricted to one side of the body. One case with symptoms matching CHILD syndrome has been described as having a likely-different cause.Shawky, R. M., Elsayed, S. M., & Amgad, H. (2016). Autosomal recessive ichthyosis with limb reduction defect: A simple association and not CHILD syndrome. Egyptian Journal of Medical Human Genetics, 17(3), 255-258.
Exposure to sunlight may improve or worsen the condition. In some cases, excess dead skin sloughs off much better from wet tanned skin after bathing or a swim, although the dry skin might be preferable to the damaging effects of sun exposure.
There can be ocular manifestations of ichthyosis, such as and ocular surface diseases. Vascularizing keratitis, which is more commonly found in congenital keratitis-ichythosis-deafness (KID), may worsen with isotretinoin therapy.
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