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Updated: 2017-06-16T12:34Z
Ichthyosis 2.jpg
Ichthyosis is characterized by rough, scaly skin.
Classification and external resources
Patient UKIchthyosis
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Ichthyosis (plural ichthyoses) is a heterogeneous family of at least 28,[1] generalized, mostly genetic skin disorders.

All types of ichthyosis have dry, thickened, scaly or flaky skin.[1] In many types there is cracked skin,[2] which is said to resemble the scales on a fish; the word ichthyosis comes from the Ancient Greek ἰχθύς (ichthys), meaning "fish."[3]

The severity of symptoms can vary enormously, from the mildest, most common, type 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.[4]


There are many types of ichthyoses and an exact diagnosis may be difficult. Types of ichthyoses are classified by their appearance and their genetic cause. Ichthyosis caused by the same gene can vary considerably in severity and symptoms. Some ichthyoses do not appear to fit exactly into any one type. Different genes can produce ichthyoses with similar symptoms. Of note, X-linked ichthyosis is associated with Kallmann syndrome (close to KAL1 gene). The most common or well-known types are as follows:[5]

Genetic simple ichthyoses

Ichthyosis vulgaris146700FLGFilaggrin
X-linked ichthyosis308100STSSteroid sulfatase
Congenital ichthyosiform erythroderma, Nonbullous (nbCIE)242100TGM1, ALOXE3/ALOX12BTransglutaminase 1
Arachidonate lipoxygenase 3
Arachidonate 12-lipoxygenase, 12R type
Epidermolytic hyperkeratosis (bullous ichthyosis, bCIE)113800KRT1, KRT10Keratins
Harlequin-type ichthyosis242500ABCA12ATP-binding cassette transporter 12
Ichthyosis bullosa of Siemens146800KRT2Keratin 2A
Ichthyosis hystrix, Curth-Macklin type146590KRT1Keratin 1
Hystrix-like ichthyosis with deafness602540GJB2Connexin-26 (Gap junction beta-2)
Lamellar ichthyosis, type 1242300TGM1Transglutaminase 1
Lamellar ichthyosis, type 2601277ABCA12ATP-binding cassette transporter 12
Lamellar ichthyosis, type 3604777CYP4F22Cytochrome P450, subfamily 4F, polypeptide 22
Lamellar ichthyosis, type 4613943LIPNLipase family, member N
Lamellar ichthyosis, type 5606545ALOXE3Arachidonate lipoxygenase 3
Autosomal Recessive Congenital Ichthyosis[6]615023CERS3ceramide synthase 3

Genetic disease with ichthyosis

CHILD Syndrome308050NSHDLNAD(P) dependent steroid dehydrogenase-like
Conradi-Hünermann syndrome302960EBPEmopamil binding protein
Ichthyosis follicularis with alopecia and photophobia syndrome308205MBTPS2Membrane-bound transcription factor peptidase, site 2
Keratitis-ichthyosis-deafness syndrome148210GJB2Connexin-26
Netherton syndrome256500SPINK5Serine peptidase inhibitor, Kazal type 5
Neutral lipid storage disease with ichthyosis275630ABHD51-acylglycerol-3-phosphate O-acyltransferase
Adult Refsum disease266500PHYH
Phytanoyl-CoA hydroxylase
Peroxin 7
Ichthyosis and male hypogonadism308200 ?
Sjögren-Larsson syndrome270200ALDH3A2Fatty acid dehydrogenase
Photosensitive trichothiodystrophy (IBIDS syndrome)601675ERCC2, ERCC3, GTF2H5Transcription factor IIH components
Gaucher Disease, type 2230900GBAGlucocerebrosidase

Non-genetic ichthyosis


A physician often can diagnose ichthyosis by looking at the skin. A family history is very useful. In some cases, a skin biopsy is done to help to confirm the diagnosis. In some instances, 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.[7]

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.[8]


Treatments for ichthyosis often take the form of topical application of creams and emollient oils, in an attempt to hydrate the skin. Creams containing lactic acid have been shown to work exceptionally well in some cases.[citation needed] Application of propylene glycol is another treatment method. Retinoids are used for some conditions.

Exposure to sunlight may improve[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.[9] 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.[10]

See also


  1. ^ a b, FAQ, Foundation for Ichthyosis & Related Skin Types (F.I.R.S.T)
  2. ^ citing: Gale Encyclopedia of Medicine. Copyright 2008
  3. ^ Ichthyosis, Johns Hopkins Health Information Library
  4. ^ Okulicz JF, Schwartz RA (2003). "Hereditary and acquired ichthyosis vulgaris". International Journal of Dermatology. 42 (2): 95–8. PMID 12708996. doi:10.1046/j.1365-4362.2003.01308.x. 
  5. ^ Types of Ichthyosis, Foundation for Ichthyosis & Related Skin Types (F.I.R.S.T.)
  6. ^ Impaired epidermal ceramide synthesis causes autosomal recessive congenital ichthyosis and reveals the importance of ceramide acyl chain length, J Invest Dermatol. 2013 Sep;133(9):2202-11.
  7. ^ Scheinfeld, N; Libkind, M; Freilich, S (2001). "New-onset ichthyosis and diabetes in a 14-year-old.". Pediatric dermatology. 18 (6): 501–3. PMID 11841637. doi:10.1046/j.1525-1470.2001.1862004.x. 
  8. ^ 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.
  9. ^ Sundberg, John P., Handbook of Mouse Mutations with Skin and Hair Abnormalities, Page 333, Published by CRC Press, 1994, ISBN 0-8493-8372-2
  10. ^ Gross, Thelma Lee, Veterinary Dermatopathology, Page 174-179, Published by Blackwell Publishing, 2004, ISBN 0-632-06452-8

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