Materiały źródłowe

• #1 Ichthyosis: etiology, diagnosis, and management – PubMed

  https://pubmed.ncbi.nlm.nih.gov/12553849/

  The ichthyoses are a heterogeneous group of disorders with both inherited and acquired forms. […] Congenital autosomal recessive ichthyosis (CARI) usually presents at birth, often as a collodion baby. […] Lamellar ichthyosis is characterized by dark, plate (armor)-like scale. This disease is often caused by mutations in the gene encoding the enzyme transglutaminase 1. […] Epidermolytic hyperkeratosis is an autosomal dominant disorder characterized by hyperkeratosis and blistering, and at least six clinical phenotypes have been described. It may be due to mutations in the gene encoding the intermediate filament proteins keratin 1 and 10. […] X-linked ichthyosis, due to a defect in the enzyme steroid sulfatase, affects males with generalized scaling that usually begins soon after birth.

• #1 Genetics of Inherited Ichthyoses and Related Diseases | HTML | Acta Dermato-Venereologica

  https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3432

  Inherited ichthyoses are classified as Mendelian disorders of cornification (MEDOC), which are defined on the basis of clinical and genetic features and are mainly divided into non-syndromic and syndromic ichthyoses. Numerous genes, which encode for corresponding proteins, are involved in the normal differentiation of keratinocytes (cornification) and participate in the formation of a functional epidermal barrier. To date, mutations in more than 50 genes are known to result in various types of ichthyoses. […] Knowledge of the molecular genetic causes and mechanisms of hereditary ichthyoses has increased hugely since the 1990s due to the ubiquitous application of modern sequencing technologies. […] Ichthyoses are genetically determined monogenic (Mendelian) cornification disorders of the epidermis characterized by different degrees of scaling, hyperkeratosis and erythroderma, often associated with palmoplantar keratoderma (PPK) or hyperlinearity.

• #1 What is Ichthyosis? Definition & Causes | NIAMS

  https://www.niams.nih.gov/health-topics/ichthyosis

  Most people have a genetic form of ichthyosis that results from a changed gene, often inherited from their parents. […] However, some people develop a form of acquired (nongenetic) ichthyosis from another medical disorder or certain medications. […] Gene mutations (changes) cause all of the inherited types of ichthyosis. Many gene mutations have been identified and the inheritance pattern depends on the type of ichthyosis. […] There are different types of inheritance patterns of ichthyosis, including: Dominant, which means you inherit one normal copy and one mutated copy of the gene that causes ichthyosis. […] Recessive, which means that your parents do not have signs of ichthyosis, but both parents carry only one abnormal gene, which is not enough to cause the disease. […] X-linked, which means the gene mutations are located on the X sex chromosome. […] Spontaneous, which means the gene mutation occurs randomly without a family history of the disorder.

• #1 Genetics of Inherited Ichthyoses and Related Diseases | HTML | Acta Dermato-Venereologica

  https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3432

  In congenital ichthyoses, the skin symptoms are present at birth, either as collodion membrane (CM) or as congenital ichthyosiform erythroderma (CIE). […] Ichthyoses caused by keratin mutations, such as epidermolytic ichthyosis (EI), superficial epidermolytic ichthyosis (SEI), and congenital reticular ichthyosiform erythroderma (CRIE), are referred to as keratinopathic ichthyoses. […] The family history and pedigree survey can provide important conclusions about the mode of inheritance, and thus contribute to the correct diagnosis. […] The most common form of ichthyosis is IV, with a prevalence of up to 1:100. It is caused by autosomal semi-dominant inherited loss-of-function mutations in the filaggrin gene (FLG). […] The generic term ARCI refers to all non-syndromic forms of autosomal recessive congenital ichthyoses that are present at birth and not associated with blistering.

• #1 Ichthyosis vulgaris

  https://dermnetnz.org/topics/ichthyosis-vulgaris

  Ichthyosis vulgaris may be inherited or acquired. […] Ichthyosis vulgaris results from loss-of-function mutations in the gene encoding the protein filaggrin (FLG), which is mapped on the epidermal differentiation complex on chromosome 1q21. The mutations lead to defective production of filaggrin. […] Xerosis or dryness results from the reduced skin hydration associated with defective filaggrin. Excessive scale results from the inability of the squames (skin cells) to remain hydrated as they move upward through the stratum corneum. Hyperkeratosis results from compensatory repair mechanisms increasing cell proliferation. […] Ichthyosis vulgaris is an autosomal semidominant condition. Semidominant means that a mutation in one gene of the chromosome pair results in a mild version of the disease, whereas a mutation in both genes on the chromosome pair results in a moderate to severe form.

• #1 Ichthyosis: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1198130-overview

  A mutation in the keratin genes (ie, KRT1, KRT10) is the cause of this autosomal dominant disorder. […] Lamellar ichthyosis is a rare, autosomal recessive, genetically heterogeneous skin disease caused by mutations involving multiple genetic loci. […] In X-linked ichthyosis, generalized scaling is present at or shortly after birth. […] Previous studies have shown a deficiency of steroid sulfatase (STS) in skin fibroblasts and a marked elevation of plasma cholesterol sulfate in patients with X-linked ichthyosis. […] Nonbullous congenital ichthyosiform erythroderma (NBIE) or congenital ichthyosiform erythroderma (CIE) is a milder form of the disease that is autosomal recessive in inheritance. […] Acquired ichthyosis usually occurs in adults and manifests as small, white, fishlike scales that frequently are concentrated on the extremities but may be seen in a generalized distribution. This form of ichthyosis may be associated with internal neoplasia (eg, Hodgkin lymphoma, leukemia), systemic illness (eg, sarcoidosis, HIV infection, hypothyroidism, chronic hepatitis, malabsorption), bone marrow transplantation, or the intake of certain medications that interfere with sterol synthesis in epidermal cells (eg, nicotinic acid).

• #1 Genetics of Inherited Ichthyoses and Related Diseases | HTML | Acta Dermato-Venereologica

  https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3432

  At present, mutations in 11 different genes are known to cause ARCI. […] The most common causes of ARCI are mutations in the TGM1 gene, first described in 1995 and found in approximately one-third of all cases of ARCI. […] Mutations in 1 of the 2 lipoxygenase genes ALOX12B or ALOXE3 were identified in 2002 using homozygosity mapping in consanguineous ARCI families. […] Defects in the ABCA12 gene can either lead to LI (ARCI4A) or to a HI (ARCI4B), depending on the nature of the mutation. […] In 2004, positional cloning was used to identify mutations in ICHTHYIN, which was later referred to as NIPAL4. […] ARCI due to mutations in CYP4F22 occurs in 8% of cases and results in a relatively mild LI that may be accentuated in the periumbilical region. […] Mutations in the gene SDR9C7 were first described in 2016 in patients with congenital ichthyosis; they presented with large erythematous scales over the entire body, with hyperkeratosis of the elbows and knees, mostly associated with palmoplantar hyperkeratosis.

• #1 All about ichthyosis: causes, symptoms and treatments

  https://www.dexeryl.com/en/your-skin/ichthyosis

  Harlequin’s ichthyosis: This is the most severe form of congenital ichthyosis but also the rarest (1 in 1 million children). A baby is born wrapped in a translucent, taut, shiny film of collodion covering the entire body. This gradually gives way to large, very thick, ridged and hard scales all over the body.

• #1 Genetics of Inherited Ichthyoses and Related Diseases | HTML | Acta Dermato-Venereologica

  https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3432

  Ichthyosis prematurity syndrome (IPS) due to mutations in SLC27A4 was initially classified as a syndromic ichthyosis, however the authors and others propose to classify IPS under ARCI. […] The term keratinopathic ichthyosis (KPI) summarizes the forms that are caused by mutations in keratin genes. […] There are 3 main types of KPI: epidermolytic ichthyosis, superficial epidermolytic ichthyosis and congenital reticular ichthyosiform erythroderma. […] The syndromic ichthyoses are generally very rare and are classified based on the mode of inheritance as X-linked or autosomal inherited ichthyosis syndromes and can be further subdivided according to the predominant symptoms. […] The AR inherited Netherton syndrome is caused by mutations in the SPINK5 gene, which codes for the serine protease inhibitor LEKTI.

• #1 Ichthyosis: Types, Symptoms, Causes, and More

  https://resources.healthgrades.com/right-care/skin-hair-and-nails/ichthyosis

  Acquired ichthyosis refers to when ichthyosis does not pass down from family members and has nongenetic causes. It can appear during the course of life, including during adulthood. […] When acquired ichthyosis occurs, it is often the result of another underlying condition. Some of the underlying causes of acquired ichthyosis include: conditions that affect vitamin absorption or reduce lipids, such as celiac disease and Crohn’s disease, malnutrition or vitamin deficiency, kidney disease, metabolic conditions, such as an underactive thyroid, sarcoidosis, types of cancer, such as Hodgkin’s lymphoma or myeloma, infections, such as from leprosy or HIV, progression to AIDS. […] Very rarely, medications can cause acquired ichthyosis.

• #1 Ichthyosis vulgaris: Pictures, diagnosis, and treatment

  https://www.medicalnewstoday.com/articles/318242

  Most cases of ichthyosis vulgaris are caused by a mutation in the gene responsible for encoding filaggrin. This is a protein that helps create the skins natural barrier. […] A vast majority of ichthyosis cases are inherited. Individuals with one copy of the abnormal gene tend to have milder cases than those with two copies. […] The condition can also be caused by: the use of certain medications, systemic conditions, conditions that affect the entire body. […] Common causes of acquired ichthyosis include: impaired thyroid function, Hodgkin lymphoma, HIV, sarcoidosis, organ failure, especially liver and kidney failure, many medications targeted cancer therapy drugs, medicines containing nicotinic acid, medications containing kava, hydroxyurea.

• #1 Get Ichthyosis Vulgaris Treatment Online – TeleMed2U

  https://www.telemed2u.com/dermatology/ichthyosis-vulgaris

  Ichthyosis can also be triggered by medications or vitamins, although this is very rare. Triggering medications include Cimetidine (used to treat ulcers and acid reflux), Clofazimine (treats leprosy) or nicotinic acid, one of the B vitamins. […] Acquired ichthyosis can develop before there are symptoms of the triggering disease. The person should have a complete physical exam to find the cause if this happens.

• #1 Ichthyosis vulgaris: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/001451.htm

  Ichthyosis vulgaris is a skin disorder passed down through families that leads to dry, scaly skin. […] Ichthyosis vulgaris is one of the most common inherited skin disorders. It may begin in early childhood. The condition is inherited in an autosomal dominant pattern. That means if you have the condition, your child has a 50% chance of getting the gene from you. […] The condition is often more noticeable in the winter. It may occur along with other skin problems including atopic dermatitis, asthma, keratosis pilaris (small bumps on the back of the arms and legs), or other skin disorders.

• #1 Ichthyosis – Causes, Risk factors, and Treatment. –

  https://diseasesdic.com/ichthyosis-causes-symptoms-and-treatment/

  Most known forms of ichthyosis are hereditary disorders. Some forms are caused by dominant genes; some are caused by recessive genes. […] In some forms of ichthyosis, the skin cells are produced at the normal rate, but they do not separate normally at the surface of the outermost layer of skin (stratum corneum) and are not shed as quickly as they should be. […] In other forms, there is an overproduction of skin cells in the epidermis. The cells reach the stratum corneum in as few as four days, compared to the normal fourteen. […] New cells are made faster than the old cells are shed and build up in the stratum corneum and underlying layers. The result in both instances is a build-up of scale.

• #1

  https://www.ichthyosis.org.uk/faqs/overview-of-ichthyosis-factsheet

  Ichthyosis is caused by mutations in genes that control the formation of skin cells, so they dont function properly. […] Different types of ichthyosis are caused by mutations in different genes: in some, skin cells are formed at a faster rate than they are needed and they pile up on the skin surface, thickening the skin. […] In other forms, the cells are produced at the normal rate but instead of brushing off when they reach the surface, they cannot become detached from the cells beneath them and so they build up in layers. […] Either way, the end result is ichthyosis.

• #1

  https://dermnetnz.org/topics/ichthyosis

  Ichthyosis can also be due to a new spontaneous mutation. […] The inherited forms of ichthyosis occur as a result of genetic mutations that alter the appearance and behaviour of keratinocytes (skin cells) in the stratum corneum (the outer skin barrier layer). Studies have shown that there are inflammatory cells and cytokines in the Th17 pathway that contribute to symptoms and signs. […] The cause of acquired ichthyosis is unknown.

• #1 The causes of ichthyosis

  https://www.avogel.co.uk/health/skin/ichthyosis/causes/

  Although most cases of ichthyosis are hereditary, there are some known instances of acquired ichthyosis. […] Acquired ichthyosis occurs when someone who was not born with hereditary ichthyosis develops the disease later in life. […] A weakened immune system can also make you more susceptible to contracting a secondary bacterial or fungal skin infection, especially if your skin is already damaged or weakened by ichthyosis. […] If your diet is full of refined sugars, alcohol, caffeine and processed fats then this will only make your symptoms worse as most of these foods contain inflammatory chemicals, like histamine. […] Your environment in and of itself, will not be the reason you develop ichthyosis but it can exaggerate your symptoms and trigger an episode.

• #1 Hereditary and Acquired Ichthyosis Vulgaris: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1112753-overview

  Hereditary ichthyosis vulgaris is an autosomal dominant genetic disorder first evident in early childhood. It is the most common form of ichthyosis, accounting for more than 95% of ichthyosis cases. Mutations in genes relating to skin barrier formation produce it. […] Loss-of-function mutations in the profilaggrin gene (FLG) are evident in up to 10% of the population, causing ichthyosis vulgaris and representing a major risk factor for the development of atopic dermatitis. […] Acquired ichthyosis may represent a paraneoplastic syndrome with an underlying cancer, such as undiagnosed multiple myeloma or reflect a serious underlying disorder such as systemic lupus erythematosus. […] Mutations in the gene encoding filaggrin have been identified as the cause of ichthyosis vulgaris and shown to be major predisposing factors for atopic dermatitis both in European and Japanese populations.

• #1 Ichthyosis – British Skin Foundation

  https://knowyourskin.britishskinfoundation.org.uk/condition/ichthyosis/

  Rare types: Autosomal recessive congenital ichthyoses […] Congenital ichthyosiform erythroderma causes inflamed, scaly skin, without blisters. […] Lamellar ichthyosis occurs in about 1 in 200,000 births. […] Harlequin ichthyosis is an extremely rare and severe type of inherited ichthyosis. […] Epidermolytic ichthyosis is inherited as an autosomal dominant disorder, which means that one of the parents may be affected. […] Netherton syndrome is an autosomal recessive disorder where both parents are carriers but show no signs of the condition. […] There are other genetic or inherited forms of ichthyosis where there are other medical problems. These are so uncommon that they are not discussed here. […] There have been dramatic advances in the understanding of the causes of certain inherited ichthyosis. Research is ongoing and in time will lead to earlier diagnosis and better treatments.

• #1 Harlequin Ichthyosis: Causes, Symptoms & Treatments

  https://www.webmd.com/children/what-is-harlequin-ichthyosis

  Because harlequin ichthyosis is so rare, most people dont get tested to find out if they are carriers of the ABCA12 gene mutation. Carriers dont have any symptoms, so they have no way of knowing. If anyone in your family has harlequin ichthyosis, or if you have had a child with it before, talk to your doctor or a genetic counselor about getting genetic testing.

• #2 Ichthyosis: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1198130-overview

  Ichthyosis refers to a relatively uncommon group of skin disorders characterized by the presence of excessive amounts of dry surface scales. It is regarded as a disorder of keratinization or cornification, and it is due to abnormal epidermal differentiation or metabolism. […] Inherited and acquired forms of ichthyosis have been described, and ocular alterations may occur in specific subtypes. Five distinct types of inherited ichthyosis are noted, as follows: ichthyosis vulgaris, lamellar ichthyosis, epidermolytic hyperkeratosis, congenital ichthyosiform erythroderma, and X-linked ichthyosis. […] Two loss-of-function mutations in the coding of the filaggrin (filament aggregating protein) gene have been identified in both ichthyosis vulgaris and atopic dermatitis. Keratohyalin synthesis is affected because of the filaggrin mutation.

• #2 All about ichthyosis: causes, symptoms and treatments

  https://www.dexeryl.com/en/your-skin/ichthyosis

  In the majority of cases, ichthyosis is a genetic disease and is, therefore, hereditary. It is caused by the mutation of one or more genes coding for the production of skin barrier components. Hereditary ichthyosis appears at birth or in early childhood. However, there are acquired cases of ichthyosis that appear in adulthood. Their development may be linked to the presence of an underlying cancer (lymphoma, visceral cancer, etc.), malnutrition, or a skin condition such as systemic lupus erythematosus. […] Ichthyosis vulgaris is caused by a mutation in a gene that codes for the synthesis of a protein involved in cell differentiation in the skin. […] X-linked ichthyosis: The second most common form. Affects about 1 in 5000 men. It appears in the first few months of life and affects almost only boys.

• #2

  https://www.ichthyosis.org.uk/faqs/inheritance-of-ichthyosis-factsheet

  There are many different types of ichthyosis. None of them are catching or contagious but they all depend on a small genetic mistake which has often been inherited from ones parents. […] Often this causes no problem or disease at all as the gene can still function. However if the mistake is in a crucial position in the gene it may make the gene malfunction so that it cant produce, for example, a skin protein, and this may lead to a disease such as ichthyosis. […] This pattern of inheritance is called autosomal dominant. It means if one parent is affected there is a 50% chance of a child being affected. […] This pattern of inheritance is called autosomal recessive. Neither parents are affected but both are carriers. On average 25% of their children will be affected, 25% normal and 50% will be unaffected carriers. […] Conditions can appear in a child when neither parent is affected. This is usually because the disease gene is newly created (new mutation) and may have occurred when the sperm or egg were produced.

• #2 Ichthyosis – BAD Patient Hub

  https://www.skinhealthinfo.org.uk/condition/ichthyosis/

  Ichthyosis refers to a group of skin conditions that cause a widespread persistent dry, scaly skin. This can range from mild to severe and is sometimes associated with skin inflammation (red or darker skin). It may be inherited (genetic) or acquired during life. […] Types of ichthyosis that are inherited are rare. Generally, these are present from birth and are usually life-long conditions. They are due to a single gene which is passed on either from one or both parents, or it develops as a new mutation (change) in the gene very early in the babys life. […] Acquired ichthyosis can develop at any age, usually in adulthood, due to an underlying medical problem or medication. […] Ichthyosis vulgaris is due to a gene change causing loss of function in a skin protein called filaggrin. […] X-linked ichthyosis is due to lower levels of an enzyme known as steroid sulfatase.

• #2 Ichthyosis: etiology, diagnosis, and management – PubMed

  https://pubmed.ncbi.nlm.nih.gov/12553849/

  The ichthyoses are a heterogeneous group of disorders with both inherited and acquired forms. […] Congenital autosomal recessive ichthyosis (CARI) usually presents at birth, often as a collodion baby. […] Lamellar ichthyosis is characterized by dark, plate (armor)-like scale. This disease is often caused by mutations in the gene encoding the enzyme transglutaminase 1. […] Epidermolytic hyperkeratosis is an autosomal dominant disorder characterized by hyperkeratosis and blistering, and at least six clinical phenotypes have been described. It may be due to mutations in the gene encoding the intermediate filament proteins keratin 1 and 10. […] X-linked ichthyosis, due to a defect in the enzyme steroid sulfatase, affects males with generalized scaling that usually begins soon after birth.

• #2 Hereditary and Acquired Ichthyosis Vulgaris: Background, Pathophysiology, Etiology

  https://emedicine.medscape.com/article/1112753-overview

  Hereditary ichthyosis vulgaris is an autosomal dominant genetic disorder first evident in early childhood. It is the most common form of ichthyosis, accounting for more than 95% of ichthyosis cases. Mutations in genes relating to skin barrier formation produce it. […] Loss-of-function mutations in the profilaggrin gene (FLG) are evident in up to 10% of the population, causing ichthyosis vulgaris and representing a major risk factor for the development of atopic dermatitis. […] Acquired ichthyosis may represent a paraneoplastic syndrome with an underlying cancer, such as undiagnosed multiple myeloma or reflect a serious underlying disorder such as systemic lupus erythematosus. […] Mutations in the gene encoding filaggrin have been identified as the cause of ichthyosis vulgaris and shown to be major predisposing factors for atopic dermatitis both in European and Japanese populations.

• #2 Ichthyosis Vulgaris: Causes, Symptoms, Treatment & Recovery

  https://my.clevelandclinic.org/health/diseases/21069-ichthyosis-vulgaris

  Ichthyosis vulgaris is usually caused by a genetic variation, which can be inherited or happen spontaneously during fetal development. […] The gene variation causes the defective production of filaggrin. Filaggrin is a protein that helps bind cells together to form the skin barrier. As a result, skin cells dont separate at the surface of your skin. And dead skin cells dont shed well, causing scales. […] But ichthyosis vulgaris can also occur with medical illnesses, like: Cancer, Kidney failure, Human immunodeficiency virus (HIV), Lupus, Sarcoidosis. […] Rarely, it can result from the use of certain medications, like: Cimetidine, Clofazimine, Nicotinic acid (a B vitamin).

• #2 Ichthyosis – British Skin Foundation

  https://knowyourskin.britishskinfoundation.org.uk/condition/ichthyosis/

  Rare types: Autosomal recessive congenital ichthyoses […] Congenital ichthyosiform erythroderma causes inflamed, scaly skin, without blisters. […] Lamellar ichthyosis occurs in about 1 in 200,000 births. […] Harlequin ichthyosis is an extremely rare and severe type of inherited ichthyosis. […] Epidermolytic ichthyosis is inherited as an autosomal dominant disorder, which means that one of the parents may be affected. […] Netherton syndrome is an autosomal recessive disorder where both parents are carriers but show no signs of the condition. […] There are other genetic or inherited forms of ichthyosis where there are other medical problems. These are so uncommon that they are not discussed here. […] There have been dramatic advances in the understanding of the causes of certain inherited ichthyosis. Research is ongoing and in time will lead to earlier diagnosis and better treatments.

• #2 Ichthyosis Lamellar: Causes, Symptoms, and Treatment

  https://www.sumlab.com/blog/ichthyosis-lamellar/?srsltid=AfmBOoo8UBMK76vY0OnSFLFSbRH_R1lWGAPG_2j3P6Z5mXjqq0jN_gL7

  Born from mutations in specific genes crucial for skin development and shedding, this condition leads individuals to battle persistent dryness, flaking, and the visual hallmark of thick, plate-like scales. […] The core of Ichthyosis Lamellar is a genetic mutation affecting the skins ability to shed dead skin cells. […] The disorder is often inherited in an autosomal recessive pattern, meaning a child needs to inherit one copy of the mutated gene from each parent to be affected. […] The TGM1 gene is most commonly implicated; it encodes for the enzyme transglutaminase 1, which is crucial for forming the skin barrier. Mutations in this gene disrupt normal skin formation, leading to the accumulation of scales. […] Given the genetic nature of Ichthyosis Lamellar, individuals with a family history of the condition are at higher risk. […] While genetic factors are the primary cause, environmental factors such as humidity and temperature can exacerbate symptoms.

• #2 Harlequin ichthyosis: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/harlequin-ichthyosis/

  Harlequin ichthyosis is a severe genetic disorder that affects the skin. […] Variants (also known as mutations) in the ABCA12 gene cause harlequin ichthyosis. […] The ABCA12 gene provides instructions for making a protein that is essential for the normal development of skin cells. […] Some variants in the ABCA12 gene prevent the cell from making any ABCA12 protein. […] A loss of functional ABCA12 protein disrupts the normal development of the epidermis before and after birth, resulting in the severe skin abnormalities characteristic of harlequin ichthyosis.

• #2 What Is Acquired Ichthyosis?

  https://www.verywellhealth.com/acquired-ichthyosis-vulgaris-2860934

  Ichthyosis represents a group of skin disorders that cause dry, scaly, or thick skin. […] The cause of acquired ichthyosis is either unknown (idiopathic) or occurs secondary to an underlying disorder such as: […] Acquired ichthyosis has also been associated with the use of certain medications, such as niacinamide, Tagamet (cimetidine) and Lamprene (clofazimine). […] The severity of acquired ichthyosis usually depends on the underlying condition present. As the systemic condition is treated, the ichthyosis generally improves.

• #2 Ichthyosis: Background, Pathophysiology, Epidemiology

  https://emedicine.medscape.com/article/1198130-overview

  A mutation in the keratin genes (ie, KRT1, KRT10) is the cause of this autosomal dominant disorder. […] Lamellar ichthyosis is a rare, autosomal recessive, genetically heterogeneous skin disease caused by mutations involving multiple genetic loci. […] In X-linked ichthyosis, generalized scaling is present at or shortly after birth. […] Previous studies have shown a deficiency of steroid sulfatase (STS) in skin fibroblasts and a marked elevation of plasma cholesterol sulfate in patients with X-linked ichthyosis. […] Nonbullous congenital ichthyosiform erythroderma (NBIE) or congenital ichthyosiform erythroderma (CIE) is a milder form of the disease that is autosomal recessive in inheritance. […] Acquired ichthyosis usually occurs in adults and manifests as small, white, fishlike scales that frequently are concentrated on the extremities but may be seen in a generalized distribution. This form of ichthyosis may be associated with internal neoplasia (eg, Hodgkin lymphoma, leukemia), systemic illness (eg, sarcoidosis, HIV infection, hypothyroidism, chronic hepatitis, malabsorption), bone marrow transplantation, or the intake of certain medications that interfere with sterol synthesis in epidermal cells (eg, nicotinic acid).

• #2 Ichthyosis – Auckland Skin Clinic

  https://www.aucklandskinclinic.co.nz/ichthyosis/

  Ichthyosis is the collective name for a group of genetic disorders of keratinisation of the skin. The normal skin shedding process is disrupted resulting in dry, rough skin with marked scaling as a feature. […] Ichthyosis disorders are inherited and are incurable but some factors can make the condition of the skin worse and the condition harder to manage: […] Acquired Ichthyosis refers to ichthyosis appearing for the first time in adult life. It is very rare but has been linked to underlying causes such as Hodgkins Disease, lymphomas, leprosy, sarcoidosis, hypothyroidism, malabsorption and a poor diet.

• #2 Ichthyosis Vulgaris: Causes: Symptoms And Treatment

  https://www.netmeds.com/health-library/post/ichthyosis-vulgaris-causes-symptoms-and-treatment?srsltid=AfmBOopL_7utWeC2i4-p2ET5iAJqeEbo9B2G541pxpL4F6x_2NR-B4hJ

  Ichthyosis Vulgaris is an inherited illness affecting the skin and the scaly condition can be passed on to the child from either one or both parents with faulty genes. If the kid develops this disease from just one parent, the symptoms tend to be milder, but when it is triggered by genetic defects obtained from both parents, the disease is rather severe. […] In rare cases, ichthyosis vulgaris develops on its own in adults and is referred to as acquired ichthyosis. It is induced by chronic conditions such as cancer, HIV infection, kidney problems and thyroid disorders, or even from taking potent prescription medications to treat other pre-existing illnesses. […] Ichthyosis vulgaris also occurs alongside other skin diseases, namely keratosis pilaris, atopic dermatitis, psoriasis and eczema, instigating incessant itching, redness, peeling and rashes.

• #2 Ichthyosis Vulgaris Causes, Treatment, Cream, Diet & Symptoms

  https://www.medicinenet.com/ichthyosis_vulgaris/article.htm

  Ichthyosis vulgaris is a rare inherited skin condition that is characterized by extremely dry skin (xerosis) involving most of the skin surface. Ichthyosis vulgaris produces large scales in the skin that can resemble fish scales, hence the term ichthyosis. An inherited genetic defect, a mutation, affecting a giant protein called filaggrin causes ichthyosis vulgaris. One inherits the defective gene from one’s parents and may be produced by one or more mutations in the profillagrin gene produced early in fetal development. It is expressed in an autosomal dominant fashion, which means that all that is necessary to have the disease is a single defective copy of the gene that codes for filaggrin. Since this protein plays a major role in the maintenance of the correct level of hydration in the skin, affected patients have difficulty retaining water in the superficial layers of the skin.

• #2 Ocular Manifestations of Ichthyosis – EyeWiki

  https://eyewiki.org/Ocular_Manifestations_of_Ichthyosis

  Ichthyosis is a group of genetic skin disorders characterized by dry, thickened, and scaly skin. These conditions arise from mutations in genes responsible for skin barrier function, leading to defects in keratinization and the natural shedding of the skin (desquamation). The severity and type of ichthyosis can vary widely, ranging from mild cases to severe forms that significantly impact a persons quality of life. Some of the most common types of ichthyoses include ichthyosis vulgaris, lamellar ichthyosis, and congenital ichthyosiform erythroderma. While the primary manifestations are dermatological, ichthyosis can also have systemic effects, including complications affecting the eyes. […] The ocular manifestations of ichthyosis are primarily linked to abnormalities in the eyelids and tear film, which can lead to conditions like exposure keratopathy. In more severe forms, such as lamellar ichthyosis and congenital ichthyosiform erythroderma, the skin around the eyelids can become tight and inflexible, resulting in ectropion or lagophthalmos. These eyelid abnormalities prevent the eyes from closing properly, leaving the cornea exposed to environmental irritants, which can cause dryness, irritation, and increase the risk of corneal ulceration. Additionally, dysfunction of the meibomian glands, which produce the oily layer of the tear film, can further destabilize the tear film, exacerbating ocular surface disease.

• #2 Genetics of Inherited Ichthyoses and Related Diseases | HTML | Acta Dermato-Venereologica

  https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3432

  The AR inherited ichthyosis hypotrichosis syndrome (IHS) is caused by mutations in the ST14 gene, which encodes serine protease matriptase. […] The term trichothiodystrophy (TTD) is based on the characteristic of the disease anomalies with short, brittle hair, longitudinal splitting and reduced content of sulphur-containing amino acids. […] The presence of ichthyosis or a collodion membrane at birth has only been observed in the rare type 2 Gaucher syndrome. […] Congenital disorders of glycosylation (CDG) are due to deficiencies in the glycoprotein biosynthesis.

• #2

  https://dermnetnz.org/topics/ichthyosis

  Ichthyosis can also be due to a new spontaneous mutation. […] The inherited forms of ichthyosis occur as a result of genetic mutations that alter the appearance and behaviour of keratinocytes (skin cells) in the stratum corneum (the outer skin barrier layer). Studies have shown that there are inflammatory cells and cytokines in the Th17 pathway that contribute to symptoms and signs. […] The cause of acquired ichthyosis is unknown.

• #2

  https://www.ichthyosis.org.uk/faqs/overview-of-ichthyosis-factsheet

  Ichthyosis is caused by mutations in genes that control the formation of skin cells, so they dont function properly. […] Different types of ichthyosis are caused by mutations in different genes: in some, skin cells are formed at a faster rate than they are needed and they pile up on the skin surface, thickening the skin. […] In other forms, the cells are produced at the normal rate but instead of brushing off when they reach the surface, they cannot become detached from the cells beneath them and so they build up in layers. […] Either way, the end result is ichthyosis.

• #2 Ichthyosis vulgaris – Wikipedia

  https://en.wikipedia.org/wiki/Ichthyosis_vulgaris

  Ichthyosis vulgaris is a common genetic disorder caused by a single gene. This disorder is thought to happen because of changes in the gene responsible for making a protein called profilaggrin, which later turns into filaggrin. Filaggrin plays a crucial role in how our skin is built. About 10% of people have some gene changes in the profilaggrin gene, and this can also be linked to another skin problem called atopic dermatitis, which often occurs along with ichthyosis vulgaris. We know the exact gene changes responsible for ichthyosis vulgaris in some cases, but not all of them. […] Usually, ichthyosis vulgaris is considered a dominant condition, which means that just one gene change can lead to the disease, and someone with this change has a 50% chance of passing it on to their child. But there is some research suggesting it might be a bit more complex, where one gene change causes a mild form of the disease, and changes in both copies of the gene would cause a more severe case.

• #2 Harlequin Ichthyosis: Causes, Symptoms & Treatments

  https://www.webmd.com/children/what-is-harlequin-ichthyosis

  Because harlequin ichthyosis is so rare, most people dont get tested to find out if they are carriers of the ABCA12 gene mutation. Carriers dont have any symptoms, so they have no way of knowing. If anyone in your family has harlequin ichthyosis, or if you have had a child with it before, talk to your doctor or a genetic counselor about getting genetic testing.

• #2 Genetics of Inherited Ichthyoses and Related Diseases | HTML | Acta Dermato-Venereologica

  https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3432

  At present, mutations in 11 different genes are known to cause ARCI. […] The most common causes of ARCI are mutations in the TGM1 gene, first described in 1995 and found in approximately one-third of all cases of ARCI. […] Mutations in 1 of the 2 lipoxygenase genes ALOX12B or ALOXE3 were identified in 2002 using homozygosity mapping in consanguineous ARCI families. […] Defects in the ABCA12 gene can either lead to LI (ARCI4A) or to a HI (ARCI4B), depending on the nature of the mutation. […] In 2004, positional cloning was used to identify mutations in ICHTHYIN, which was later referred to as NIPAL4. […] ARCI due to mutations in CYP4F22 occurs in 8% of cases and results in a relatively mild LI that may be accentuated in the periumbilical region. […] Mutations in the gene SDR9C7 were first described in 2016 in patients with congenital ichthyosis; they presented with large erythematous scales over the entire body, with hyperkeratosis of the elbows and knees, mostly associated with palmoplantar hyperkeratosis.

• #2 Ichthyosis: Types, Symptoms, Causes, and More

  https://resources.healthgrades.com/right-care/skin-hair-and-nails/ichthyosis

  Acquired ichthyosis refers to when ichthyosis does not pass down from family members and has nongenetic causes. It can appear during the course of life, including during adulthood. […] When acquired ichthyosis occurs, it is often the result of another underlying condition. Some of the underlying causes of acquired ichthyosis include: conditions that affect vitamin absorption or reduce lipids, such as celiac disease and Crohn’s disease, malnutrition or vitamin deficiency, kidney disease, metabolic conditions, such as an underactive thyroid, sarcoidosis, types of cancer, such as Hodgkin’s lymphoma or myeloma, infections, such as from leprosy or HIV, progression to AIDS. […] Very rarely, medications can cause acquired ichthyosis.

• #2 Ichthyosis, causes, symptoms and treatments,

  https://www.centrethermalavene.com/en/your-skin/ichtyosis

  Ichthyosis is a monogenic genetic disease characterised by abnormally dry skin that sheds, giving an appearance like fish scales. It is caused by an abnormality in a gene that plays a role in the formation of the skin barrier. Its mode of transmission is variable and more than 50 genes are known to date, whose abnormalities lead to different types of ichthyosis. […] Other types of ichthyosis may be associated with abnormalities other than of the skin. […] To date, there is no medical treatment that can cure ichthyosis.

• #3 Ichthyosis – Wikipedia

  https://en.wikipedia.org/wiki/Ichthyosis

  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 caused by mutations in the same gene can vary considerably in severity and symptoms. […] 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.

• #3 The causes of ichthyosis

  https://www.avogel.co.uk/health/skin/ichthyosis/causes/

  Ichthyosis is a distressing skin condition with a variety of causes. In most cases, your symptoms will either be caused by your genetics or acquired later on in life. […] Those that suffer from ichthyosis often despair as the primary cause of the disease is often rooted in their genetics rather than any other internal or external factor. […] Hereditary ichthyosis accounts for an overwhelming 95% of ichthyosis cases, making your genetics the undisputed offender when it comes to the appearance of the skin condition. […] Research has made a breakthrough in recent years, even identifying the specific mutation that causes ichthyosis, and it is all to do with the protein filaggrin. […] When the FLG gene, responsible for encoding profilaggrin and filaggrin, becomes altered or mutated, it can affect the function of your keratinocytes and stratum corneum.

• #3 Ichthyosis | Great Ormond Street Hospital

  https://www.gosh.nhs.uk/conditions-and-treatments/conditions-we-treat/ichthyosis/

  Ichthyosis is caused by a fault on a gene that is responsible for the skin shedding and regrowth process. […] In some cases, this fault develops sporadically (out of the blue) but in many cases, it is passed on from parents to their child. […] How the faulty genes are passed on varies depending on the type of ichthyosis. […] Ichthyosis vulgaris is passed on in an autosomal dominant manner this means that a child only has to inherit the faulty gene from one parent to risk having the condition. […] X-linked ichthyosis is passed on in an X-linked manner this means that the faulty gene is on the X-chromosome. […] Autosomal recessive congenital ichthyosis including harlequin ichthyosis are passed on in an autosomal recessive manner this means that a child has to inherit the faulty gene from both parents to risk having the condition.

• #3 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Types-of-Ichthyosis.aspx

  Ichthyosis is an inherited group of skin disorders characterized by xerosis and scaling. […] Ichthyosis Vulgaris and X-linked recessive ichthyosis are the most frequent, both caused by well-known genetic abnormalities. […] IV is caused by autosomal dominant mutations in the filaggrin gene (FLG), which is required for epidermal development and skin barrier formation. […] Mutations in the STS gene, which codes for steroid sulfatase, on the X chromosome cause XLRI. […] Loss-of-function mutations in ABCA12, which encodes an ATP-binding cassette (ABC) transporter, induce HI. […] TGM1 mutations are the most frequent and account for roughly 32% of ARCI17 heritability. […] Mutations in the keratin family genes KRT1, KRT2, and KRT10 cause all kinds of keratinopathic ichthyosis. […] Rare autosomal recessive mutations in KRT10 cause autosomal recessive epidermolytic ichthyosis. […] It is distinguished by widespread, spiky, or verrucous hyperkeratosis of the big joints and trunk, with or without palmoplantar keratoderma. […] LOR, which encodes loricrin, a key component of the cornified cell membrane present in terminally developed epidermal keratinocytes, is mutated in LK.

• #3 Unveiling Ichthyosis Vulgaris: Causes, Symptoms, And Treatment | The Naked Chemist

  https://thenakedchemist.com/ichthyosis-vulgaris-and-the-gene-filaggrin/?srsltid=AfmBOopKufqaCmIGnccd_iGUdgGRkWGkCQieqLZgb9_MFiH8Yeu1ZhIm

  Ichthyosis vulgaris is a genetic skin condition in which dead skin cells accumulate in thick, dry layers on the surface of the skin. […] This dermatological condition is characterised by dry, scaly skin is typically inherited and results from a genetic mutation that affects the skin’s ability to shed dead cells properly, leading to a buildup of thick, dry scales. […] A deficiency in the filaggrin gene causes an impaired barrier, leading to water loss, as this study demonstrated. […] In a normal skin cell, there are usually two copies of the filaggrin gene; research has discovered that people susceptible to eczema typically have only one copy of this gene. […] This discovery is important because it brings us closer to understanding why some people suffer from dry skin and conditions like eczema.

• #3 What Is X-linked Ichthyosis?

  https://www.icliniq.com/articles/skin-care/x-linked-ichthyosis

  X-linked ichthyosis is a hereditary disorder that occurs due to a mutation in the enzyme steroid sulfatase or STS. This enzyme is responsible for cholesterol sulfate metabolism, which is necessary for the proper development of the stratum corneum (upper layer of skin). In patients with the disorder, the absence of the enzyme leads to the development of hyperkeratosis and improper skin barrier. […] This occurs due to the mutation of the enzyme STS. The deficiency leads to improper metabolism of cholesterol sulfate, which accumulates in the stratum corneum (outer layer of skin). This leads to an improper skin barrier and the retention of cells of the stratum corneum (called corneocytes), which gives rise to the scaling appearance of the skin. The deficiency of the STS enzyme inhibits the metabolism of cholesterol sulfate, which causes it to accumulate on the surface of the skin, which leads to:

• #3 Harlequin Ichthyosis (HI): Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/harlequin-ichthyosis

  Harlequin ichthyosis is a rare genetic skin disease that affects newborns. […] A genetic variant (genetic mutation) in the ABCA12 gene causes harlequin ichthyosis. […] You inherit harlequin ichthyosis in an autosomal recessive manner, which means you receive both copies of the affected gene one from each parent. […] If you have harlequin ichthyosis, you have abnormally small amounts of the ABCA12 protein or none at all. […] This disrupts the normal development of your epidermis, which leads to the severe symptoms that the condition produces.

• #3 Ichthyosis Vulgaris: Causes, Symptoms, Treatment & Recovery

  https://my.clevelandclinic.org/health/diseases/21069-ichthyosis-vulgaris

  Ichthyosis vulgaris is usually caused by a genetic variation, which can be inherited or happen spontaneously during fetal development. […] The gene variation causes the defective production of filaggrin. Filaggrin is a protein that helps bind cells together to form the skin barrier. As a result, skin cells dont separate at the surface of your skin. And dead skin cells dont shed well, causing scales. […] But ichthyosis vulgaris can also occur with medical illnesses, like: Cancer, Kidney failure, Human immunodeficiency virus (HIV), Lupus, Sarcoidosis. […] Rarely, it can result from the use of certain medications, like: Cimetidine, Clofazimine, Nicotinic acid (a B vitamin).

• #3 Ichthyosis vulgaris: Pictures, diagnosis, and treatment

  https://www.medicalnewstoday.com/articles/318242

  Most cases of ichthyosis vulgaris are caused by a mutation in the gene responsible for encoding filaggrin. This is a protein that helps create the skins natural barrier. […] A vast majority of ichthyosis cases are inherited. Individuals with one copy of the abnormal gene tend to have milder cases than those with two copies. […] The condition can also be caused by: the use of certain medications, systemic conditions, conditions that affect the entire body. […] Common causes of acquired ichthyosis include: impaired thyroid function, Hodgkin lymphoma, HIV, sarcoidosis, organ failure, especially liver and kidney failure, many medications targeted cancer therapy drugs, medicines containing nicotinic acid, medications containing kava, hydroxyurea.

• #3 Congenital disorders of glycosylation: other causes of ichthyosis | European Journal of Human Genetics

  https://www.nature.com/articles/ejhg2013168

  We would like to point out that some congenital disorders of glycosylation (CDG) present ichthyosis. Associations have been described for MPDU1-CDG (formerly CDG-If), DOLK-CDG (CDG-Im), SRD5A3-CDG (CDG-Iq) and PIGL-CDG (CHIME syndrome, Zunich neuroectodermal syndrome). […] The four reported patients showed skin involvement (ichthyosis and/or erythroderma). […] DOLK-CDG is a defect in dolichol kinase, the last step of the dolichol phosphate biosynthesis. […] It shows a clinical spectrum with at one end a non-syndromic dilated cardiomyopathy (reported in nine patients), and at the other end a severe syndrome (reported in four patients) with ichthyosis, as well as dilated cardiomyopathy, epilepsy, microcephaly, visual impairment, hypoglycemia and death within the first 6 months. […] SRD5A3-CDG is a defect in polyprenol reductase, involved in the biosynthesis of dolichol. This cerebro-cerebello-oculo-cutaneous syndrome has been described in some 15 patients. Its skin component consists of ichthyosis, erythroderma and/or dry skin.

• #3 Ichthyosis – BAD Patient Hub

  https://www.skinhealthinfo.org.uk/condition/ichthyosis/

  Ichthyosis refers to a group of skin conditions that cause a widespread persistent dry, scaly skin. This can range from mild to severe and is sometimes associated with skin inflammation (red or darker skin). It may be inherited (genetic) or acquired during life. […] Types of ichthyosis that are inherited are rare. Generally, these are present from birth and are usually life-long conditions. They are due to a single gene which is passed on either from one or both parents, or it develops as a new mutation (change) in the gene very early in the babys life. […] Acquired ichthyosis can develop at any age, usually in adulthood, due to an underlying medical problem or medication. […] Ichthyosis vulgaris is due to a gene change causing loss of function in a skin protein called filaggrin. […] X-linked ichthyosis is due to lower levels of an enzyme known as steroid sulfatase.

• #3 The causes of ichthyosis

  https://www.avogel.co.uk/health/skin/ichthyosis/causes/

  Although most cases of ichthyosis are hereditary, there are some known instances of acquired ichthyosis. […] Acquired ichthyosis occurs when someone who was not born with hereditary ichthyosis develops the disease later in life. […] A weakened immune system can also make you more susceptible to contracting a secondary bacterial or fungal skin infection, especially if your skin is already damaged or weakened by ichthyosis. […] If your diet is full of refined sugars, alcohol, caffeine and processed fats then this will only make your symptoms worse as most of these foods contain inflammatory chemicals, like histamine. […] Your environment in and of itself, will not be the reason you develop ichthyosis but it can exaggerate your symptoms and trigger an episode.

• #4 Ichthyosis vulgaris: Who gets and causes

  https://www.aad.org/public/diseases/a-z/ichthyosis-vulgaris-causes

  To get ichthyosis vulgaris, one of the following must happen. The person can: […] Inherited ichthyosis vulgaris is caused by genes. The person either inherits the genes for this disease from one or both parents or genes changes while the baby is forming inside the womb. […] Acquired ichthyosis vulgaris has a different cause. A disease usually triggers it. Diseases that can trigger it include long-term kidney failure, different types of cancer (especially lymphoma), sarcoidosis, and infections such as leprosy and HIV. […] In very rare cases, a medicine or vitamin can trigger acquired ichthyosis vulgaris.

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