|Ichthyosis is characterized by rough, scaly skin.|
Ichthyosis is a family of genetic skin disorders characterized by dry, thickened, scaly skin. 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 from the Greek ἰχθύς ichthys, literally "fish", 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.
Many types of ichthyoses exist, and an exact diagnosis may be difficult. Types of ichthyoses are classified by their appearance, if they are syndromic or not, and by mode of inheritance. For example, non-syndromic ichthyoses that are inherited recessively come under the umbrella term autosomal recessive congenital ichthyosis (ARCI).
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||146700||Autosomal semi-dominant||FLG|
|X-linked recessive ichthyosis||308100||X-linked recessive||STS|
|Harlequin ichthyosis||242500||Autosomal recessive||ABCA12|
|Congenital ichthyosiform erythoderma||242100||Autosomal recessive||TGMI1, ALOX12B, ALOXE3, ABCA12, CYP4F22, NIPAL4, LIPN, CERS3, PNPLA1, ST14, CASP14|
|Lamellar ichthyosis||242300||Autosomal recessive||TGMI1, ALOX12B, ALOXE3, ABCA12, CYP4F22, NIPAL4, LIPN, CERS3, PNPLA1, ST14, CASP14|
|Self improving congenital ichthyosis||242300||Autosomal recessive||TGM1, ALOX12B, ALOXE3|
|Bathing suit ichthyosis||242300||Autosomal recessive||TGMI1|
|Epidermolytic ichthyosis||113800||Autosomal dominant||KRT1, KRT10|
|Superficial epidermolytic ichthyosis||146800||Autosomal dominant||KRT2|
|Annular epidermolytic ichthyosis||607602||Autosomal dominant||KRT1, KRT10|
|Ichthyosis Curth-Macklin||146590||Autosomal dominant||KRT1|
|Autosomal recessive epidermolytic ichthyosis||113800||Autosomal recessive||KRT10|
|Congenital reticular ichthyosiform erythroderma||609165||Autosomal dominant||KRT1, KRT10|
|Epidermolytic nevi||113800||Postzygotic mosaicism||KRT1, KRT10|
|Loricrin keratoderma||604117||Autosomal dominant||LOR|
|Erythrokeratodermia variabilis||133200||Autosomal dominant||GJB3, GJB4|
|Peeling skin disease||270300||Autosomal recessive||CDSN|
|Keratosis linearis with ichthyosis congenita and sclerosing keratoderma||601952||Autosomal recessive||POMP|
|Name||OMIM||Mode Of Inheritance||Gene(s)|
|X-linked recessive ichthyosis syndromic forms||308700||X-linked recessive||STS|
|Ichthyosis follicularis with alopecia and photophobia syndrome||308205||X-linked recessive||MBTPS2|
|Conradi-Hunermann-Happle syndrome||302960||X-linked dominant||EBP|
|Netherton syndrome||256500||Autosomal recessive||SPINK5|
|Ichthyosis-hypotrichosis syndrome||610765||Autosomal recessive||ST14|
|Trichothiodystrophy||601675||Autosomal recessive||ERCC2, ERCC3, GTF2H5|
|Trichothiodystrophy (non-congenital forms)||275550||Autosomal recessive||C7Orf11, TTDN1|
|Sjögren-Larsson syndrome||270200||Autosomal recessive||ALDH3A2|
|Refsum's disease||266500||Autosomal recessive||PHYH, PEX7|
|Mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratoderma syndrome||609528||Autosomal recessive||SNAP29|
|Arthrogryposis, renal dysfunction, cholestasis syndrome||208085||Autosomal recessive||VPS33B|
|Keratitis-ichthosis-deafness syndrome||602450||Autosomal dominant||GJB2|
|Neutral lipid storage disease with ichthyosis||275630||Autosomal recessive||ABHD5|
|Ichthyosis prematurity syndrome||608649||Autosomal recessive||SLC27A4|
A physician often can diagnose ichthyosis by looking at the skin. A family history is also useful in determining the mode of inheritance. In some cases, a skin biopsy is done to help to confirm the diagnosis while in others genetic testing may be helpful in making a diagnosis. Diabetes has not been definitively linked to acquired ichthyosis or ichthyosis vulgaris; however, there are case reports associating new onset ichthyosis with diabetes.
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. A research done in Egypt proved that it is not a child syndrome and discussed all the case report.
Treatments for ichthyosis often take the form of topical application of creams and emollient oils, in an attempt to hydrate the skin. Creams containing a high percentage of urea or lactic acid have been shown to work exceptionally well in some cases. Application of propylene glycol is another treatment method. Retinoids are used for some conditions.
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 corneal and ocular surface diseases. Vascularizing keratitis, which is more commonly found in congenital keratitis-ichythosis-deafness (KID), may worsen with isotretinoin therapy.
Ichthyosis or ichthyosis-like disorders exist for several types of animals, including cattle, chickens, llamas, mice and dogs. Ichthyosis of varying severity is well documented in some popular breeds of domestic dogs. The most common breeds to have ichthyosis are Golden retrievers, American bulldogs, Jack Russell terriers and Cairn terriers.
- Skin disease
- Ichthyosis en confetti
- List of cutaneous conditions
- List of cutaneous neoplasms associated with systemic syndromes
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- Cicely Blair (February 1976). "The action of a urea—lactic acid ointment in ichthyosis". British Journal of Dermatology. 94 (2): 145–153. doi:10.1111/j.1365-2133.1976.tb04363.x. PMID 943169. S2CID 29854858.
- Sundberg, John P., Handbook of Mouse Mutations with Skin and Hair Abnormalities, Page 333, Published by CRC Press, 1994, ISBN 0-8493-8372-2
- Gross, Thelma Lee, Veterinary Dermatopathology, Page 174-179, Published by Blackwell Publishing, 2004, ISBN 0-632-06452-8
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