Ichthyosis

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Ichthyosis
Other namesIchthyoses
Ichthyosis (1).jpg
Ichthyosis is characterized by generalised, scaly skin.
Specialty Dermatology

Ichthyosis (also named fish scale disease) [1] is a family of genetic skin disorders characterized by dry, thickened, scaly skin. [2] 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). [3] Ichthyosis comes from Greek ἰχθύς (ichthys) 'fish', since dry, scaly skin is the defining feature of all forms of ichthyosis. [4]

Contents

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. [5]

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. [6] 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: [6]

Non-syndromic ichthyosis

Name OMIM Mode Of InheritanceGene(s)
Ichthyosis vulgaris 146700 Autosomal semi-dominant FLG
X-linked recessive ichthyosis 308100 X-linked recessive STS
Harlequin ichthyosis 242500 Autosomal recessive ABCA12
Congenital ichthyosiform erythoderma 242100 Autosomal recessive TGMI1, NIPAL4, ALOX12B, ALOXE3, ABCA12, CYP4F22, NIPAL4, LIPN, CERS3, PNPLA1, ST14, CASP14
Lamellar ichthyosis 242300 Autosomal recessive TGMI1 , NIPAL4, ALOX12B, ALOXE3, ABCA12, CYP4F22, NIPAL4, LIPN, CERS3, PNPLA1, ST14, CASP14
Self improving congenital ichthyosis 242300 Autosomal recessive TGM1, ALOX12B, ALOXE3
Bathing suit ichthyosis 242300 Autosomal recessive TGMI1
Epidermolytic ichthyosis 113800 Autosomal dominant KRT1, KRT10
Superficial epidermolytic ichthyosis 146800 Autosomal dominant KRT2
Annular epidermolytic ichthyosis 607602 Autosomal dominant KRT1 , KRT10
Ichthyosis Curth-Macklin 146590 Autosomal dominant KRT1
Autosomal recessive epidermolytic ichthyosis 113800 Autosomal recessive KRT10
Congenital reticular ichthyosiform erythroderma 609165 Autosomal dominant KRT1 , KRT10
Epidermolytic nevi 113800 Postzygotic mosaicism KRT1 , KRT10
Loricrin keratoderma 604117 Autosomal dominantLOR
Erythrokeratodermia variabilis 133200 Autosomal dominant GJB3, GJB4
Peeling skin disease 270300 Autosomal recessive CDSN
Keratosis linearis with ichthyosis congenita and sclerosing keratoderma 601952 Autosomal recessive POMP

Syndromic ichthyosis

Name OMIM Mode Of Inheritance Gene (s)
X-linked recessive ichthyosis syndromic forms 308700 300500 300533 X-linked recessive STS
Ichthyosis follicularis with alopecia and photophobia syndrome 308205 X-linked recessive MBTPS2
Conradi-Hunermann-Happle syndrome 302960 X-linked dominant EBP
Netherton syndrome 256500 Autosomal recessive SPINK5
Ichthyosis-hypotrichosis syndrome 610765 Autosomal recessive ST14
Trichothiodystrophy 601675 Autosomal recessive ERCC2, ERCC3, GTF2H5
Trichothiodystrophy (non-congenital forms) 275550 211390 601675 Autosomal recessive C7Orf11, TTDN1
Sjögren-Larsson syndrome 270200 Autosomal recessive ALDH3A2
Refsum's disease 266500 Autosomal recessive PHYH, PEX7
Mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratoderma syndrome 609528 Autosomal recessive SNAP29
Arthrogryposis, renal dysfunction, cholestasis syndrome 208085 Autosomal recessive VPS33B
Keratitis-ichthyosis-deafness syndrome 602450 148210 Autosomal dominant GJB2
Neutral lipid storage disease with ichthyosis 275630 Autosomal recessive ABHD5
Ichthyosis prematurity syndrome 608649 Autosomal recessive SLC27A4
Neu–Laxova syndrome 256520 616038 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. [7]

Ichthyosis has been found to be more common in Native American, Asian, Mongolian groups.[ 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. [8]

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. [9] 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. [10] 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. [11]

See also

Related Research Articles

<span class="mw-page-title-main">Genetic disorder</span> Health problem caused by one or more abnormalities in the genome

A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development, or it can be inherited from two parents who are carriers of a faulty gene or from a parent with the disorder. When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA.

<span class="mw-page-title-main">Ichthyosis vulgaris</span> Skin disorder

Ichthyosis vulgaris is a skin disorder causing dry, scaly skin. It is the most common form, and one of the mildest forms, of ichthyosis, affecting around 1 in 250 people. For this reason it is known as common ichthyosis. It is usually an autosomal dominant inherited disease, although a rare non-heritable version called acquired ichthyosis exists.

<span class="mw-page-title-main">Lamellar ichthyosis</span> Medical condition

Lamellar ichthyosis, also known as ichthyosis lamellaris and nonbullous congenital ichthyosis, is a rare inherited skin disorder, affecting around 1 in 600,000 people.

<span class="mw-page-title-main">Epidermolytic hyperkeratosis</span> Medical condition

Epidermolytic ichthyosis (EI), is a severe form of dry scaly skin, that initially presents with redness, blisters, erosions, and peeling in a newborn baby. Hyperkeratosis typically develops several months later. Other symptoms include itch, painful fissures, strong body odor, and absence of sweat. Symptoms vary in severity and extent of skin involvement. The two main types are divided into one involving palms and soles and the other without.

<span class="mw-page-title-main">Keratosis pilaris</span> Skin condition characterized by small bumps caused by overproduction of keratin

Keratosis pilaris is a common, autosomal-dominant, genetic condition of the skin's hair follicles characterized by the appearance of possibly itchy, small, gooseflesh-like bumps, with varying degrees of reddening or inflammation. It most often appears on the outer sides of the upper arms, thighs, face, back, and buttocks; KP can also occur on the hands, and tops of legs, sides, or any body part except glabrous (hairless) skin. Often the lesions can appear on the face, which may be mistaken for acne or folliculitis.

<span class="mw-page-title-main">X-linked ichthyosis</span> Medical condition

X-linked ichthyosis is a skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males. XLI manifests with dry, scaly skin and is due to deletions or mutations in the STS gene. XLI can also occur in the context of larger deletions causing contiguous gene syndromes. Treatment is largely aimed at alleviating the skin symptoms. The term is from the Ancient Greek 'ichthys' meaning 'fish'.

<span class="mw-page-title-main">Meleda disease</span> Medical condition

Meleda disease (MDM) or "mal de Meleda", also called Mljet disease, keratosis palmoplantaris and transgradiens of Siemens, is an extremely rare autosomal recessive congenital skin disorder in which dry, thick patches of skin develop on the soles of the hands and feet, a condition known as palmoplantar hyperkeratosis. Meleda Disease is a skin condition which usually can be identified not long after birth. This is a genetic condition but it is very rare. The hands and feet usually are the first to show signs of the disease but the disease can advance to other parts of the body. Signs of the disease include thickening of the skin, on hands and soles of feet, which can turn red in color. There currently is no cure and treatment is limited, but Acitretin can be used in severe cases.

<span class="mw-page-title-main">Sjögren–Larsson syndrome</span> Medical condition

Sjögren–Larsson syndrome is a rare autosomal recessive form of ichthyosis with neurological symptoms. It can be identified by a triad of medical disorders. The first is ichthyosis, which is a buildup of skin to form a scale-like covering that causes dry skin and other problems. The second identifier is paraplegia which is characterized by leg spasms. The final identifier is intellectual delay.

<span class="mw-page-title-main">Genodermatosis</span> Genetic skin disease

Genodermatosis is a hereditary skin disease with three inherited modes including single gene inheritance, multiple gene inheritance and chromosome inheritance. There are many different types of genodermatosis; the prevalence of genodermatosis ranges from 1 per 6000 people to 1 per 500,000 people. Genodermatosis has influence on the texture, color and structure of skin cuticle and connective tissue, specific lesion site and clinical manifestations on the body vary depending on the type. In the spite of the variety and complexity of genodermatosis, there are still some common methods that can help people diagnose. After diagnosis, different types of genodermatosis require different levels of therapy including interventions, nursing interventions and treatments. Among that, research of therapy for some new, complex and rare types are still in the developing stage. The impact of genodermatosis not only can be seen in body but also can be seen in all aspects of patients' life, including but not limited to psychological, family life, economic conditions and social activities. Accordingly, the patients need treatment, support and help in these areas.

<span class="mw-page-title-main">Ichthyosis bullosa of Siemens</span> Medical condition

Ichthyosis bullosa of Siemens is a type of familial, autosomal dominant ichthyosis, a rare skin disorder. It is also known as bullous congenital ichthyosiform erythroderma of Siemens or ichthyosis exfoliativa. It is a genetic disorder with no known cure which is estimated to affect about 1 in 500,000 people.

Eclabium means the turning outwards of the lip. Eclabium comes from the Greek word "ek" meaning "out," and the Latin word "labium" meaning "lip." This deformation occurs in most babies born with harlequin type ichthyosis, caused by genetic defects. Eclabium can severely impact the quality of life. There are ways to predict if a child will have this condition before they are born through genetic testing. For patients who suffer from eclabium due to improper wound healing, there are different treatment options available to restore the lips back to normal or at least to the point where they are not a hazard to the patients quality of life. Periodontitis can also cause eclabium. As eclabium is a symptom, it is treated by addressing its cause. When the underlying disease is treated, the eclabium tends to go away as well.

Congenital ichthyosiform erythroderma, also known as nonbullous congenital ichthyosiform erythroderma, is a rare type of the ichthyosis family of skin diseases which occurs in 1 in 200,000 to 300,000 births. The disease comes under the umbrella term autosomal recessive congenital ichthyosis, which include non-syndromic congenital ichthyoses such as harlequin ichthyosis and lamellar ichthyosis.

<span class="mw-page-title-main">Ichthyosis follicularis with alopecia and photophobia syndrome</span> Medical condition

IFAP syndrome is an extremely rare genetic syndrome. It is also known as Ichthyosis follicularis, alopecia, and photophobia syndrome or simply ichthyosis follicularis. It is extremely rare: there were only 40 known cases until 2011.

<span class="mw-page-title-main">Neutral lipid storage disease</span> Congenital autosomal recessive disorder

Neutral lipid storage disease is a congenital autosomal recessive disorder characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. It commonly occurs as one of two subtypes, cardiomyopathic neutral lipid storage disease (NLSD-M), or ichthyotic neutral lipid storage disease (NLSD-I) which is also known as Chanarin–Dorfman syndrome), which are characterized primarily by myopathy and ichthyosis, respectively. Normally, the ichthyosis that is present is typically non-bullous congenital ichthyosiform erythroderma which appears as white scaling.

Trichorrhexis invaginata is a distinctive hair shaft abnormality that may occur sporadically, either in normal hair or with other hair shaft abnormalities, or regularly as a marker for Netherton syndrome. The primary defect appears to be abnormal keratinization of the hair shaft in the keratogenous zone, allowing for intussusception of the fully keratinized and hard distal shaft into the incompletely keratinized and soft proximal portion of the shaft.

<span class="mw-page-title-main">Trichothiodystrophy</span> Medical condition

Trichothiodystrophy (TTD) is an autosomal recessive inherited disorder characterised by brittle hair and intellectual impairment. The word breaks down into tricho – "hair", thio – "sulphur", and dystrophy – "wasting away" or literally "bad nourishment". TTD is associated with a range of symptoms connected with organs of the ectoderm and neuroectoderm. TTD may be subclassified into four syndromes: Approximately half of all patients with trichothiodystrophy have photosensitivity, which divides the classification into syndromes with or without photosensitivity; BIDS and PBIDS, and IBIDS and PIBIDS. Modern covering usage is TTD-P (photosensitive), and TTD.

<span class="mw-page-title-main">Nakajo syndrome</span> Medical condition

Nakajo syndrome, also called nodular erythema with digital changes, is a rare autosomal recessive congenital disorder first reported in 1939 by A. Nakajo in the offspring of consanguineous parents. The syndrome can be characterized by erythema, loss of body fat in the upper part of the body, and disproportionately large eyes, ears, nose, lips, and fingers.

Ichthyosis prematurity syndrome (IPS) is a dermatological disease with known genetic causes. This syndrome is a rare subcategory of autosomal recessive congenital ichthyosis (ARCI). It is associated with complications in the mid-trimester of a pregnancy leading to premature births. Although most prevalent in individuals of Scandinavian origin, there have also been scattered cases in people of Japanese, Italian and Indian ethnicity. This disorder is also referred to as ichthyosis congenital type IV.

<span class="mw-page-title-main">Setleis syndrome</span> Medical condition

Setleis syndrome is a very rare genetic condition characterized by facial skin abnormalities and double upper eyelashes and missing lower eyelashes. It belongs to a group of diseases known as ectodermal dysplasias. Ectodermal dysplasias typically affect the hair, teeth, nails, and/or skin. Setleis syndrome is characterized by distinctive abnormalities of the facial area that may be apparent at birth (congenital). Most affected infants have multiple, scar-like, circular depressions on both temples (bitemporal). These marks closely resemble those made when forceps are used to assist delivery. The range and severity of symptoms may vary from case to case.

<span class="mw-page-title-main">NIPAL4</span> Gene

Nipa‐Like Domain‐Containing 4, also known as NIPAL4 or Ichthyin, is a gene that is predicted to code for a transmembrane protein with nine transmembrane domains. NIPAL4 codes for the protein magnesium transporter NIPA4, which acts as a Mg2+
transporter.

References

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