Ichthyosis
Family of disorders causing dry, thickened, scaly skin
title: "Ichthyosis" type: doc version: 1 created: 2026-02-28 author: "Wikipedia contributors" status: active scope: public tags: ["genodermatoses", "rare-diseases"] description: "Family of disorders causing dry, thickened, scaly skin" topic_path: "general/genodermatoses" source: "https://en.wikipedia.org/wiki/Ichthyosis" license: "CC BY-SA 4.0" wikipedia_page_id: 0 wikipedia_revision_id: 0
::summary Family of disorders causing dry, thickened, scaly skin ::
::data[format=table title="Infobox medical condition (new)"]
| Field | Value |
|---|---|
| name | Ichthyosis |
| synonyms | Ichthyoses |
| image | Ichthyosis (1).jpg |
| caption | Ichthyosis is characterized by generalised scaly skin. |
| field | Dermatology |
| :: |
| name = Ichthyosis | synonyms = Ichthyoses | image = Ichthyosis (1).jpg | caption = Ichthyosis is characterized by generalised scaly skin. | field = Dermatology | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths =
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
::data[format=table title=""]
| Name | OMIM | Mode Of Inheritance | Gene(s) |
|---|---|---|---|
| Ichthyosis vulgaris | {{OMIM | 146700 | none}} |
| X-linked recessive ichthyosis | {{OMIM | 308100 | none}} |
| Harlequin ichthyosis | {{OMIM | 242500 | none}} |
| Congenital ichthyosiform erythoderma | {{OMIM | 242100 | none}} |
| Lamellar ichthyosis | {{OMIM | 242300 | none}} |
| Self improving congenital ichthyosis | {{OMIM | 242300 | none}} |
| Bathing suit ichthyosis | {{OMIM | 242300 | none}} |
| Epidermolytic ichthyosis | {{OMIM | 113800 | none}} |
| Superficial epidermolytic ichthyosis | {{OMIM | 146800 | none}} |
| Annular epidermolytic ichthyosis | {{OMIM | 607602 | none}} |
| Ichthyosis Curth-Macklin | {{OMIM | 146590 | none}} |
| Autosomal recessive epidermolytic ichthyosis | {{OMIM | 113800 | none}} |
| Congenital reticular ichthyosiform erythroderma | {{OMIM | 609165 | none}} |
| Epidermolytic nevi | {{OMIM | 113800 | none}} |
| Loricrin keratoderma | {{OMIM | 604117 | none}} |
| Erythrokeratodermia variabilis | {{OMIM | 133200 | none}} |
| Peeling skin disease | {{OMIM | 270300 | none}} |
| Keratosis linearis with ichthyosis congenita and sclerosing keratoderma | {{OMIM | 601952 | none}} |
| :: |
Syndromic ichthyosis
::data[format=table title=""]
| Name | OMIM | Mode Of Inheritance | Gene (s) |
|---|---|---|---|
| X-linked recessive ichthyosis syndromic forms | {{OMIM | 308700 | none}}{{OMIM |
| Ichthyosis follicularis with alopecia and photophobia syndrome | {{OMIM | 308205 | none}} |
| Conradi-Hunermann-Happle syndrome | {{OMIM | 302960 | none}} |
| Netherton syndrome | {{OMIM | 256500 | none}} |
| Ichthyosis-hypotrichosis syndrome | {{OMIM | 610765 | none}} |
| Trichothiodystrophy | {{OMIM | 601675 | none}} |
| Trichothiodystrophy (non-congenital forms) | {{OMIM | 275550 | none}}{{OMIM |
| Sjögren-Larsson syndrome | {{OMIM | 270200 | none}} |
| Refsum's disease | {{OMIM | 266500 | none}} |
| Mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratoderma syndrome | {{OMIM | 609528 | none}} |
| Arthrogryposis, renal dysfunction, cholestasis syndrome | {{OMIM | 208085 | none}} |
| Keratitis-ichthyosis-deafness syndrome | {{OMIM | 602450 | none}}{{OMIM |
| Neutral lipid storage disease with ichthyosis | {{OMIM | 275630 | none}} |
| Ichthyosis prematurity syndrome | {{OMIM | 608649 | none}} |
| Neu–Laxova syndrome | {{OMIM | 256520 | none}}{{OMIM |
| :: |
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.
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
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
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