Ichthyosis

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Ichthyosis<ref>Template:Cite journal</ref> is a family of genetic skin disorders characterized by dry, thickened, scaly skin.<ref name=Andrew2020>Template:Cite book</ref> 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 Template:Ety, since dry, scaly skin is the defining feature of all forms of ichthyosis.<ref>Template:Cite web</ref>

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.<ref name=Okulicz2003>Template:Cite journal</ref>

Types

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.<ref name=":0" /> 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:<ref name=":0">Template:Cite journal</ref>

Non-syndromic ichthyosis

Name OMIM Mode Of Inheritance Gene(s)
Ichthyosis vulgaris Template:OMIM Autosomal semi-dominant FLG
X-linked recessive ichthyosis Template:OMIM X-linked recessive STS
Harlequin ichthyosis Template:OMIM Autosomal recessive ABCA12
Congenital ichthyosiform erythoderma Template:OMIM Autosomal recessive TGMI1, NIPAL4, ALOX12B, ALOXE3, ABCA12, CYP4F22, NIPAL4, LIPN, CERS3, PNPLA1, ST14, CASP14
Lamellar ichthyosis Template:OMIM Autosomal recessive TGMI1, NIPAL4, ALOX12B, ALOXE3, ABCA12, CYP4F22, NIPAL4, LIPN, CERS3, PNPLA1, ST14, CASP14
Self improving congenital ichthyosis Template:OMIM Autosomal recessive TGM1, ALOX12B, ALOXE3
Bathing suit ichthyosis Template:OMIM Autosomal recessive TGMI1
Epidermolytic ichthyosis Template:OMIM Autosomal dominant KRT1, KRT10
Superficial epidermolytic ichthyosis Template:OMIM Autosomal dominant KRT2
Annular epidermolytic ichthyosis Template:OMIM Autosomal dominant KRT1, KRT10
Ichthyosis Curth-Macklin Template:OMIM Autosomal dominant KRT1
Autosomal recessive epidermolytic ichthyosis Template:OMIM Autosomal recessive KRT10
Congenital reticular ichthyosiform erythroderma Template:OMIM Autosomal dominant KRT1, KRT10
Epidermolytic nevi Template:OMIM Postzygotic mosaicism KRT1, KRT10
Loricrin keratoderma Template:OMIM Autosomal dominant LOR
Erythrokeratodermia variabilis Template:OMIM Autosomal dominant GJB3, GJB4
Peeling skin disease Template:OMIM Autosomal recessive CDSN
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma Template:OMIM Autosomal recessive POMP

Syndromic ichthyosis

Name OMIM Mode Of Inheritance Gene (s)
X-linked recessive ichthyosis syndromic forms Template:OMIMTemplate:OMIMTemplate:OMIM X-linked recessive STS
Ichthyosis follicularis with alopecia and photophobia syndrome Template:OMIM X-linked recessive MBTPS2
Conradi-Hunermann-Happle syndrome Template:OMIM X-linked dominant EBP
Netherton syndrome Template:OMIM Autosomal recessive SPINK5
Ichthyosis-hypotrichosis syndrome Template:OMIM Autosomal recessive ST14
Trichothiodystrophy Template:OMIM Autosomal recessive ERCC2, ERCC3, GTF2H5
Trichothiodystrophy (non-congenital forms) Template:OMIMTemplate:OMIMTemplate:OMIM Autosomal recessive C7Orf11, TTDN1
Sjögren-Larsson syndrome Template:OMIM Autosomal recessive ALDH3A2
Refsum's disease Template:OMIM Autosomal recessive PHYH, PEX7
Mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratoderma syndrome Template:OMIM Autosomal recessive SNAP29
Arthrogryposis, renal dysfunction, cholestasis syndrome Template:OMIM Autosomal recessive VPS33B
Keratitis-ichthyosis-deafness syndrome Template:OMIMTemplate:OMIM Autosomal dominant GJB2
Neutral lipid storage disease with ichthyosis Template:OMIM Autosomal recessive ABHD5
Ichthyosis prematurity syndrome Template:OMIM Autosomal recessive SLC27A4
Neu–Laxova syndrome Template:OMIMTemplate:OMIM autosomal recessive PHGDH, PSAT1 and PSPH

Non-genetic ichthyosis

Diagnosis

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.<ref>Template:Cite journal</ref>

Ichthyosis has been found to be more common in Native American, Asian, Mongolian groups.Template:Citation needed 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.<ref>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.</ref>

Treatments

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.<ref>Template:Cite journal</ref> Application of propylene glycol is another treatment method. Retinoids are used for some conditions.

Exposure to sunlight may improveTemplate:Citation needed 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.

Other animals

Ichthyosis or ichthyosis-like disorders exist for several types of animals, including cattle, chickens, llamas, mice, and dogs.<ref>Sundberg, John P., Handbook of Mouse Mutations with Skin and Hair Abnormalities, Page 333, Published by CRC Press, 1994, Template:ISBN</ref> 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.<ref>Template:Cite web</ref><ref>Gross, Thelma Lee, Veterinary Dermatopathology, Page 174-179, Published by Blackwell Publishing, 2004, Template:ISBN</ref>

In fiction

See also

References

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Template:Diseases of the skin and appendages by morphology Template:Congenital malformations and deformations of integument Template:Authority control

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