Ichthyosis

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Ichthyosis
SpecialtyMedical genetics Edit this on Wikidata

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 ιχθύς (ichthys), meaning "fish."[3] The severity of symptoms can vary enormously, from the mildest types such as ichthyosis vulgaris which may be mistaken for normal dry skin up to life-threatening conditions such as harlequin type ichthyosis. The most common type of ichthyosis is ichthyosis vulgaris, accounting for more than 95% of cases.[4]

Types

There are many types of Ichthyosis and an exact diagnosis may be difficult. Types of Ichthyosis are classified by their appearance and their genetic cause. Ichthyosis caused by the same gene can vary considerably in severity and symptoms. Some Ichthyoses don't appear to fit exactly into any one type. Also 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

Name OMIM Gene Protein
Ichthyosis vulgaris Template:OMIM2 FLG Filaggrin
X-linked ichthyosis Template:OMIM2 STS Steroid sulfatase
Congenital ichthyosiform erythroderma, Nonbullous (nbCIE) Template:OMIM2 TGM1, ALOXE3/ALOX12B Transglutaminase 1
Arachidonate lipoxygenase 3
Arachidonate 12-lipoxygenase, 12R type
Epidermolytic hyperkeratosis(bullous ichthyosis, bCIE) Template:OMIM2 KRT1, KRT10 Keratins
Harlequin-type ichthyosis Template:OMIM2 ABCA12 ATP-binding cassette transporter 12
Ichthyosis bullosa of Siemens Template:OMIM2 KRT2 Keratin 2A
Ichthyosis hystrix, Curth-Macklin type Template:OMIM2 KRT1 Keratin 1
Hystrix-like ichthyosis with deafness Template:OMIM2 GJB2 Connexin-26 (Gap junction beta-2)
Lamellar ichthyosis, type 1 Template:OMIM2 TGM1 Transglutaminase 1
Lamellar ichthyosis, type 2 Template:OMIM2 ABCA12 ATP-binding cassette transporter 12
Lamellar ichthyosis, type 3Hello Template:OMIM2 CYP4F22 Cytochrome P450, subfamily 4F, polypeptide 22
Lamellar ichthyosis, type 4 Template:OMIM2 LIPN Lipase family, member N
Lamellar ichthyosis, type 5 Template:OMIM2 Unknown

Genetic disease with ichthyosis

Name OMIM Gene Protein
CHILD Syndrome Template:OMIM2 NSHDL NAD(P) dependent steroid dehydrogenase-like
Conradi-Hünermann syndrome Template:OMIM2 EBP Emopamil binding protein
Ichthyosis follicularis with alopecia and photophobia syndrome Template:OMIM2 MBTPS2 Membrane-bound transcription factor peptidase, site 2
Keratitis-ichthyosis-deafness syndrome Template:OMIM2 GJB2 Connexin-26
Netherton syndrome Template:OMIM2 SPINK5 Serine peptidase inhibitor, Kazal type 5
Neutral lipid storage disease with ichthyosis Template:OMIM2 ABHD5 1-acylglycerol-3-phosphate O-acyltransferase
Adult Refsum disease Template:OMIM2 PHYH
PEX7 		Phytanoyl-CoA hydroxylase
Peroxin 7
Ichthyosis and male hypogonadism Template:OMIM2 ?
Sjögren-Larsson syndrome Template:OMIM2 ALDH3A2 Fatty acid dehydrogenase
Photosensitive trichothiodystrophy (IBIDS syndrome) Template:OMIM2 ERCC2, ERCC3, GTF2H5 Transcription factor IIH components

Non-genetic ichthyosis

Diagnosis

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 a biopsy, a small piece of skin is removed and examined under a microscope. In some instances, genetic testing may be helpful in making a diagnosis. Diabetes has not been linked to acquired ichthyosis or ichthyosis vulgaris.[6]

Ichthyosis is not more or less common in any ethnic group. As of now, there is no way to prevent ichthyosis since it is often of a genetic nature.

Treatments

Treatments for ichthyosis often take the form of topical application of creams and emollient oils, in an attempt to hydrate the skin. Retinoids are also used for some conditions. Exposure to sunlight may improve or worsen the condition.

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 in animals

Ichthyosis or ichthyosis-like diseases exist for several types of animals, including cattle, chickens, llamas, mice, and dogs.[7] 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.[8]

See also

References

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

External links


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