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Ichthyosis

Family of disorders causing dry, thickened, scaly skin

Summary

Family of disorders causing dry, thickened, scaly skin

Field	Value
name	Ichthyosis
synonyms	Ichthyoses
image	Ichthyosis (1).jpg
caption	Ichthyosis is characterized by generalised scaly skin.
field	Dermatology

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 , 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.

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. 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:

Non-syndromic ichthyosis

Name	OMIM	Mode Of Inheritance	Gene(s)
Ichthyosis vulgaris	{{OMIM	146700	none}}	Autosomal semi-dominant
X-linked recessive ichthyosis	{{OMIM	308100	none}}	X-linked recessive
Harlequin ichthyosis	{{OMIM	242500	none}}	Autosomal recessive
Congenital ichthyosiform erythoderma	{{OMIM	242100	none}}	Autosomal recessive
Lamellar ichthyosis	{{OMIM	242300	none}}	Autosomal recessive
Self improving congenital ichthyosis	{{OMIM	242300	none}}	Autosomal recessive
Bathing suit ichthyosis	{{OMIM	242300	none}}	Autosomal recessive
Epidermolytic ichthyosis	{{OMIM	113800	none}}	Autosomal dominant
Superficial epidermolytic ichthyosis	{{OMIM	146800	none}}	Autosomal dominant
Annular epidermolytic ichthyosis	{{OMIM	607602	none}}	Autosomal dominant
Ichthyosis Curth-Macklin	{{OMIM	146590	none}}	Autosomal dominant
Autosomal recessive epidermolytic ichthyosis	{{OMIM	113800	none}}	Autosomal recessive
Congenital reticular ichthyosiform erythroderma	{{OMIM	609165	none}}	Autosomal dominant
Epidermolytic nevi	{{OMIM	113800	none}}	Postzygotic mosaicism
Loricrin keratoderma	{{OMIM	604117	none}}	Autosomal dominant
Erythrokeratodermia variabilis	{{OMIM	133200	none}}	Autosomal dominant
Peeling skin disease	{{OMIM	270300	none}}	Autosomal recessive
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	{{OMIM	601952	none}}	Autosomal recessive

Syndromic ichthyosis

Name	OMIM	Mode Of Inheritance	Gene (s)
X-linked recessive ichthyosis syndromic forms	{{OMIM	308700	none}}{{OMIM	300500	none}}{{OMIM	300533
Ichthyosis follicularis with alopecia and photophobia syndrome	{{OMIM	308205	none}}	X-linked recessive
Conradi-Hunermann-Happle syndrome	{{OMIM	302960	none}}	X-linked dominant
Netherton syndrome	{{OMIM	256500	none}}	Autosomal recessive
Ichthyosis-hypotrichosis syndrome	{{OMIM	610765	none}}	Autosomal recessive
Trichothiodystrophy	{{OMIM	601675	none}}	Autosomal recessive
Trichothiodystrophy (non-congenital forms)	{{OMIM	275550	none}}{{OMIM	211390	none}}{{OMIM	601675
Sjögren-Larsson syndrome	{{OMIM	270200	none}}	Autosomal recessive
Refsum's disease	{{OMIM	266500	none}}	Autosomal recessive
Mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratoderma syndrome	{{OMIM	609528	none}}	Autosomal recessive
Arthrogryposis, renal dysfunction, cholestasis syndrome	{{OMIM	208085	none}}	Autosomal recessive
Keratitis-ichthyosis-deafness syndrome	{{OMIM	602450	none}}{{OMIM	148210	none}}
Neutral lipid storage disease with ichthyosis	{{OMIM	275630	none}}	Autosomal recessive
Ichthyosis prematurity syndrome	{{OMIM	608649	none}}	Autosomal recessive
Neu–Laxova syndrome	{{OMIM	256520	none}}{{OMIM	616038	none}}

Non-genetic ichthyosis

Ichthyosis acquisita

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.

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.

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. 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.

Other animals

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.

In fiction

Arthur Conan Doyle – "The Adventure of the Blanched Soldier"
Michel Faber – The Crimson Petal and the White
George R. R. Martin – A Song of Ice and Fire
Bernard Minier – Sisters
DC Comics - Killer Croc
Osamu Tezuka - Black Jack

References

(November 2021). "Validity of First-Time Diagnoses of Darier's Disease in the Danish National Patient Registry". Clinical Epidemiology.
(2020). "Andrews' Diseases of the Skin: Clinical Dermatology". Elsevier.
"Ichthyosis". Johns Hopkins Medicine.
(2003). "Hereditary and acquired ichthyosis vulgaris". International Journal of Dermatology.
(2017). "S1 guidelines for the diagnosis and treatment of ichthyoses - update". JDDG: Journal der Deutschen Dermatologischen Gesellschaft.
(2001). "New-onset ichthyosis and diabetes in a 14-year-old.". Pediatric Dermatology.
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.
Cicely Blair. (February 1976). "The action of a urea—lactic acid ointment in ichthyosis". British Journal of Dermatology.
0-8493-8372-2
"Ichthyosis in golden retrievers (Excessive scale or dandruff flakes)". The skin vet.
0-632-06452-8

Wikipedia Source

This article was imported from Wikipedia and is available under the Creative Commons Attribution-ShareAlike 4.0 License. Content has been adapted to SurfDoc format. Original contributors can be found on the article history page.

genodermatoses rare-diseases

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