Materiały źródłowe

• #1 Ichthyosis Guide: Causes, Symptoms and Treatment Options

  https://www.drugs.com/health-guide/ichthyosis.html

  Ichthyosis is the term for severe, persistent problems with dry skin that almost always start in childhood or infancy. […] There is no way to prevent ichthyosis. As with other genetic diseases, there is a risk that children of an affected parent will inherit the gene. […] Treatment of all types of ichthyosis involves restoring the skin’s moisture and facilitating more aggressive shedding of dead skin cells. Regular visits to a dermatologist can help when ichthyosis causes severe symptoms. […] To get the best results, use moisture-retaining creams or ointments after a bath or shower, so that moisture is maintained within the skin surface. […] Also helpful are medicines that promote shedding of skin flakes. These include lotions or creams that contain lactic acid or other alpha-hydroxy acids.

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

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

  Theres no way to prevent most cases of ichthyosis vulgaris. But you can help manage flare-ups by frequently soaking, exfoliating and moisturizing. […] If you think you have ichthyosis vulgaris, talk to a healthcare provider like a dermatologist. They can diagnose the issue and prescribe medication to help minimize severe symptoms and prevent infections.

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

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

  You cant prevent harlequin ichthyosis because its a genetic condition. If you have a biological family history of the condition, you may want to talk to your healthcare provider about genetic testing or genetic counseling. […] Harlequin ichthyosis is a long-term (chronic) condition thatll need lifetime care. Its important to find a dermatologist who specializes in the condition so that your child can get the treatment they need throughout their life. You should also develop a daily routine to help your child control their skin issues (scales, cracking, itching), which will continue throughout their life.

• #1 Ichthyosis Hystrix (Lambert Type) | Doctor

  https://patient.info/doctor/ichthyosis-hystrix-(lambert-type).htm

  There does not appear to be any prenatal test that can be employed. As it is a dominant condition, presumably one parent is affected. The literature seems to make no reference to limited penetrance. There will be a 1 in 2 chance of any children being affected.

• #1

  https://www.ichthyosis.org.uk/faqs/harlequin-ichthyosis

  Harlequin ichthyosis cannot be prevented but it is possible to diagnose or recognise it early in pregnancy by removing some of the amniotic fluid surrounding the developing foetus to identify if there is a mutation in ABCA12. This allows the family to decide if they wish to continue or terminate the pregnancy. […] It is also feasible that preimplantation diagnosis may be available in the near future. Preimplantation testing is a relatively new way to look even earlier into the genes of the developing embryo. In preimplantation diagnosis a normally fertile couple will choose to undergo in-vitro fertilization and then test each of the embryos for a genetic disease, in this case harlequin ichthyosis, before they are transferred to the mothers womb. […] The finding of a gene for harlequin ichthyosis may also allow development in the future of a specific treatment to replace the missing protein in the upper layers of the skin in this disease.

• #1 Invitae Congenital Ichthyosis Panel | Test catalog | Invitae

  https://www.invitae.com/us/providers/test-catalog/test-434346

  The Invitae Congenital Ichthyosis Panel analyzes genes that are associated with congenital or early onset ichthyosis and related skin diseases, which are characterized by thick, dry, scaly, and/or reddened skin, a collodion membrane, or thickening of the skin on the palms and soles at birth or in early childhood. […] Genetic testing of these genes may confirm a diagnosis and help guide treatment and management decisions. Identification of a disease-causing variant can inform recurrence-risk assessment and genetic counseling.

• #1 Managing Ichthyosis in the General Dermatology Office

  https://www.dermatologytimes.com/view/managing-ichthyosis-in-the-general-dermatology-office

  Not every ichthyosis patient has to be referred to an expert. […] To help colleagues recognize and develop a treatment approach to ichthyosis, Bunick published guidelines with Evelyn Lilly, MD, that map out different clinical approaches. Initial considerations for the management of ichthyosis include genetic testing, neonates, bathing practices, exfoliation, moisturizers, health monitoring, retinoids, and thermodysregulation. […] If a patient isnt responding to typical moisturizing, that raises the question of patient quality of life, according to Bunick. […] Genetic testing might be a great start and in this particular patient, they had a steroid sulfatase mutation which is associated with X-linked recessive ichthyosis. […] TMB-001, a topical isotretinoin formulation, is currently in development for the treatment of congenital ichthyosis.

• #1 Management of Ichthyosis: A Brief Review

  https://www.skintherapyletter.com/ichthyoses/management-ichthyosis-review/

  Ichthyosis management should incorporate hydration and lubrication with the addition of keratolytics and modulators of keratinocyte differentiation depending on scale severity. […] The majority of ichthyosis therapies aim to improve the barrier function of the skin. Important aspects of an ichthyosis patient’s daily routine include bathing and proper application of the bland creams and ointments discussed previously. […] In addition, patients diagnosed with ichthyosis should be aware of the lifelong course of this group of disorders, as there is currently no cure. […] To decrease potential risks for the development of atopic disorders, individuals diagnosed with ichthyosis vulgaris should be advised to avoid certain environmental risk factors including professions involving wet work or excessive metal and contact irritant exposure.

• #1 Ichthyosis: Types, Symptoms, & Treatment

  https://www.webmd.com/skin-problems-and-treatments/what-is-ichthyosis

  You can’t make ichthyosis go away. But there’s a lot you can do to make it feel better and help with your symptoms. Some steps you can take include: […] Taking baths or other steps to add moisture to your skin. […] Staying cool. Heat and sweat can make it worse. […] Use a humidifier to keep heat and air conditioning from drying out your skin. […] Wear loose clothes that are cotton or another fabric that doesn’t bother your skin. […] Avoid laundry detergents or other products with dyes and perfumes. […] It always helps to find other people with the same condition. They can be a source of support and have ideas for things to try. Look for a support group online or where you live with other people who have ichthyosis. If you’re struggling with your skin condition, reach out to a mental health professional.

• #1 Hereditary and Acquired Ichthyosis Vulgaris Treatment & Management: Medical Care, Prevention

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

  In many patients, scaling can be controlled by diligent and consistent treatment. […] The main approach to treatment of both conditions includes hydration of the skin and application of an ointment to prevent evaporation. […] Studies are being designed to quantify and compare the physiochemical properties of various topical emollients with the most desirable attributes to treat ichthyosis vulgaris.

• #1 How Is Lamellar Ichthyosis Treated? Genetic Disease Causes

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

  Can you prevent lamellar ichthyosis? […] Prevention tips for lamellar ichthyosis include: […] People should regularly get vaccinated for flu, pneumonia, and other infections. […] Take care of yourself by taking regular baths, cleaning your hands, and carefully caring for wounds. […] When you have an infection, get immediate medical attention. When identified early, sepsis is easily treated. […] Use massaging creams on your palms and below your eyes to prevent tightening of the skin. […] Lubricating creams and ointments should be applied immediately after dabbing dry the skin after taking a bath. […] Usually, lamellar ichthyosis requires taking care of the skin for life, such as keeping the skin moist to reduce the thickness of the scales.

• #1 The treatment of ichthyosis

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

  There may be no definitive cure for ichthyosis but there are still a number of herbal and conventional treatments that can ease your internal and external symptoms. […] Nevertheless, although there is no definitive cure, there are still a number of important preventative steps you can take to avoid triggering an outbreak, and there are plenty of home and herbal remedies that can soothe the external symptoms, reducing any itchiness, discomfort or psychological stress. […] When you suffer from ichthyosis, you should be more aware of your environment and the effect that it can have on your skin. Exposing your skin to cold, dry weather conditions will only provoke your symptoms and exacerbate an existing episode. Instead, try to keep your skin covered and make sure to moisturise it on a daily basis to avoid any potential dehydration.

• #1 Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling | HTML | Acta Dermato-Venereologica

  https://www.medicaljournals.se/acta/content/html/10.2340/00015555-3887

  Data on vitamin D status of patients with inherited ichthyosis in Europe is scarce and unspecific concerning the genetic subtype. […] Thus, this study supports our recent guidelines for ichthyoses, which recommend screening for and substituting of vitamin D deficiency. […] Vitamin D deficiency and insufficiency was highly prevalent in this study cohort. […] Thus, this study supports our recent guidelines for ichthyoses, which recommend screening for and substituting of vitamin D deficiency. […] The current study showed that the degree of scaling and cornification represents a risk factor for vitamin D deficiency. […] In summary, measurement of vitamin D levels should be recommended in patients with ichthyoses, especially for individuals with severe scaling and cornification or inflammatory forms. […] Vitamin D supplementation for patients with insufficient or deficient vitamin D serum levels is recommended to prevent secondary diseases.

• #1 Treatment of Harlequin Ichthyosis With Acitretin | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-treatment-harlequin-ichthyosis-with-acitretin-articulo-S1578219015002589

  Harlequin ichthyosis is the most severe autosomal recessive congenital ichthyosis caused by homozygotic mutations of the ABCA12 gene. […] Systemic treatment with acitretin was started on the ninth day of life at a dose of 0.5mg/kg/d, increased to 1mg/kg/d after 2 months. […] The systemic retinoids are associated with increased survival to 2 to 20 years of age. Acitretin is the drug of choice because of its shorter plasma half-life, which reduces side effects. […] However, it is difficult to carry out clinical efficacy trials because of the very low prevalence of harlequin ichthyosis and because neonatal intensive care (fluid and electrolyte support, topical emollients and keratolytic agents, debridement of constricting bands, monitoring for infection) is also crucial to the prognosis.

• #1 Managing Ichthyosis in the General Dermatology Office

  https://www.dermatologytimes.com/view/managing-ichthyosis-in-the-general-dermatology-office

  The advantage of TMB-001 is that its designed to limit systemic retinoid exposure and reduces adverse effect risks of systemics or retinoids. […] In the phase 2b CONTROL study, 64% of patients treated with TMB-001 0.05% in the intent to treat population achieved Visual Index for Ichthyosis Severity (VIIS-50) reduction of 50% or more. […] According to Bunick, the systemic exposure to isotretinoin and its metabolites from this topical form of isotretinoin is near 0.

• #1 Family

  https://patents.google.com/patent/US20100210578A1/en

  the present invention relates to the prevention/treatment of ichthyosis vulgaris (IV), atopy and potentially other disorders associated with loss-of-function mutations in the filaggrin gene sequence. […] the prevention/therapy is based on the use of agents which enable the host’s translational machinery to read through a nonsense mutation found in a mutant allele of the filaggrin gene. […] IV could be treated using small molecule drugs designed to overcome at least some of the identified filaggrin mutations. […] a method of treating IV and/or other associated diseases comprising the step of administrating to a subject an agent which is capable of enabling read-through of a loss-of-function mutation in a filaggrin gene. […] the present invention enables treatment of IV and/or to treating an animal subject, especially a human subject who is predisposed to developing IV. Additionally, due to an association of IV, in severe or mild forms, with other diseases, the treatment may be used on a subject who is likely to be predisposed or suffering from atopic dermatitis (eczema), asthma, psoriasis or allergies, such as of a contact type allergy and food allergies (for example, peanut allergy).

• #1 Family

  https://patents.google.com/patent/US20100210578A1/en

  agents which are able to induce the read-through of nonsense mutations. […] One class of agents are certain aminoglycoside antibiotics, including gentamicin, paromomycin, neomycin and tobramycin. […] the loss of function mutations which may be overcome are generally nonsense mutations. […] the subject may be any subject requiring to be treated, prophylactically or therapeutically and may suitably be a newborn or even a foetus. […] the present invention also provides a method of identifying such suppressors. […] a method of testing an agent for its ability to read-through a nonsense mutation comprising the steps of: a) providing a mutant filaggrin gene/reporter gene construct; b) contacting a test agent with said construct; and c) detecting whether or not the test agent is capable of effecting read-through of the mutant filaggrin gene and expression of a reporter gene. […] the method may be carried out in cell based or cell-free systems known in the art.

• #1 Management of Ichthyosis: A Brief Review

  https://www.skintherapyletter.com/ichthyoses/management-ichthyosis-review/

  Finally, it is important to acknowledge lifestyle factors that commonly influence the quality of life in ichthyoses patients. […] Gene therapy is not yet a reality in ichthyosis therapy; however, genetic counseling remains an integral aspect of disease management. […] Topical therapy is necessary in the management of ichthyosis; thus, consideration should be given to the cosmetic appeal and fragrance of treatment creams and ointments. […] Ichthyosis management requires a multimodal approach, including topical and oral agents in addition to lifestyle modifications.

• #1 Overcoming the Barrier Treatment of Ichthyosis: A Combination-therapy Approach | JCAD – The Journal of Clinical and Aesthetic Dermatology

  https://jcadonline.com/overcoming-the-barrier-treatment-of-ichthyosis-a-combination-therapy-approach/

  Ichthyosis vulgaris is an inherited disorder of keratinization that results in asteatotic scales on extensor surfaces of the arm, legs, and trunk. A combination-therapy approach with a physiological lipid-based barrier repair topical emulsion and ammonium lactate 12% lotion applied topically was shown to be effective at four-week follow up without any untoward side effects. This combination therapy addresses the importance of caring for both the corneocytes (bricks) and the intercellular lipid bilayer (mortar) for optimal benefit. […] Treatment should be directed toward caring for both bricks and mortar components of the stratum corneum. The combination therapy of Ec and AL 12% lotion addresses both elements in order to optimize treatment for the IV patient.

• #1 Ichthyosis – Dermatologic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/dermatologic-disorders/cornification-disorders/ichthyosis

  Ichthyosis may be acquired or inherited as an isolated disorder or as part of a syndrome. […] Emollients that speed the shedding of skin (keratolytics) are effective in treating ichthyosis. […] When ichthyosis is associated with a systemic disorder, the underlying disorder must be treated for the ichthyosis to abate. […] Avoiding drying of the skin is important to prevent exacerbation of scaling. […] Research is ongoing in the development of molecular treatments for ichthyoses and related diseases, including protein and enzyme replacement, repurposed biologic agents, small-molecule agents, and gene replacement and editing.

• #1

  https://link.springer.com/article/10.1007/s13555-024-01239-4

  Advancements in the molecular genetics of ichthyosis, two rare inherited skin conditions, have enabled the identification of genetic variants that cause these diseases. […] Gene and cell therapies aim to address the underlying genetic causes of disease and have already shown success in the clinic. […] Gene therapy for the most common type of ichthyosis, lamellar ichthyosis caused by biallelic pathogenic variants in TGM1, is currently being developed using an engineered herpes simplex virus type 1 vector. […] Due to their rare and ultrarare incidence, gene therapy for the ichthyoses is rarely investigated. However, gene therapy for ichthyosis is a promising therapeutic approach due to the monogenic nature and tissue accessibility associated with this condition. […] Lamellar ichthyosis typically presents at birth with a collodion membrane, which is replaced by large, brown, plate-like scales in a generalized distribution. […] In 2021, Freedman et al. described a modified herpes simplex virus type 1 vector (KB105) encoding human TGM1 for the treatment of ARCI. […] KB105 efficiently transduced TGM1-deficient human keratinocytes, promoted TGM1 expression, and rescued enzymatic deficiency.

• #2 Ichthyosis – Dermatologic Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/dermatologic-disorders/cornification-disorders/ichthyosis

  Ichthyosis may be acquired or inherited as an isolated disorder or as part of a syndrome. […] Emollients that speed the shedding of skin (keratolytics) are effective in treating ichthyosis. […] When ichthyosis is associated with a systemic disorder, the underlying disorder must be treated for the ichthyosis to abate. […] Avoiding drying of the skin is important to prevent exacerbation of scaling. […] Research is ongoing in the development of molecular treatments for ichthyoses and related diseases, including protein and enzyme replacement, repurposed biologic agents, small-molecule agents, and gene replacement and editing.

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

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

  You cant prevent harlequin ichthyosis because its a genetic condition. If you have a biological family history of the condition, you may want to talk to your healthcare provider about genetic testing or genetic counseling. […] Harlequin ichthyosis is a long-term (chronic) condition thatll need lifetime care. Its important to find a dermatologist who specializes in the condition so that your child can get the treatment they need throughout their life. You should also develop a daily routine to help your child control their skin issues (scales, cracking, itching), which will continue throughout their life.

• #2 Management of Ichthyosis: A Brief Review

  https://www.skintherapyletter.com/ichthyoses/management-ichthyosis-review/

  Finally, it is important to acknowledge lifestyle factors that commonly influence the quality of life in ichthyoses patients. […] Gene therapy is not yet a reality in ichthyosis therapy; however, genetic counseling remains an integral aspect of disease management. […] Topical therapy is necessary in the management of ichthyosis; thus, consideration should be given to the cosmetic appeal and fragrance of treatment creams and ointments. […] Ichthyosis management requires a multimodal approach, including topical and oral agents in addition to lifestyle modifications.

• #2 Hereditary and Acquired Ichthyosis Vulgaris Treatment & Management: Medical Care, Prevention

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

  In many patients, scaling can be controlled by diligent and consistent treatment. […] The main approach to treatment of both conditions includes hydration of the skin and application of an ointment to prevent evaporation. […] Studies are being designed to quantify and compare the physiochemical properties of various topical emollients with the most desirable attributes to treat ichthyosis vulgaris.

• #2 Ichthyosis Guide: Causes, Symptoms and Treatment Options

  https://www.drugs.com/health-guide/ichthyosis.html

  Ichthyosis is the term for severe, persistent problems with dry skin that almost always start in childhood or infancy. […] There is no way to prevent ichthyosis. As with other genetic diseases, there is a risk that children of an affected parent will inherit the gene. […] Treatment of all types of ichthyosis involves restoring the skin’s moisture and facilitating more aggressive shedding of dead skin cells. Regular visits to a dermatologist can help when ichthyosis causes severe symptoms. […] To get the best results, use moisture-retaining creams or ointments after a bath or shower, so that moisture is maintained within the skin surface. […] Also helpful are medicines that promote shedding of skin flakes. These include lotions or creams that contain lactic acid or other alpha-hydroxy acids.

• #2 How Is Lamellar Ichthyosis Treated? Genetic Disease Causes

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

  Can you prevent lamellar ichthyosis? […] Prevention tips for lamellar ichthyosis include: […] People should regularly get vaccinated for flu, pneumonia, and other infections. […] Take care of yourself by taking regular baths, cleaning your hands, and carefully caring for wounds. […] When you have an infection, get immediate medical attention. When identified early, sepsis is easily treated. […] Use massaging creams on your palms and below your eyes to prevent tightening of the skin. […] Lubricating creams and ointments should be applied immediately after dabbing dry the skin after taking a bath. […] Usually, lamellar ichthyosis requires taking care of the skin for life, such as keeping the skin moist to reduce the thickness of the scales.

• #2 Ichthyosis | Laserderm Dermatology & Cosmetic Laser Surgery

  https://laserderm.com/general-dermatology/skin-conditions/ichthyosis/

  Ichthyosis is a skin condition characterized by scaly skin that collects on the outer layer of the epidermis. […] The physicians at Laserderm Dermatology & Cosmetic Laser Surgery may also suggest preventative solutions that help alleviate some of the symptoms associated with ichthyosis. Bathing with mild soaps will usually lessen the chances of the skin becoming irritated as well as the application of over-the-counter moisturizers multiple times a day and immediately after bathing. […] The best way to determine how you can relieve the symptoms of ichthyosis is to contact Laserderm Dermatology & Cosmetic Laser Surgery.

• #2 Management of Ichthyosis: A Brief Review

  https://www.skintherapyletter.com/ichthyoses/management-ichthyosis-review/

  Ichthyosis management should incorporate hydration and lubrication with the addition of keratolytics and modulators of keratinocyte differentiation depending on scale severity. […] The majority of ichthyosis therapies aim to improve the barrier function of the skin. Important aspects of an ichthyosis patient’s daily routine include bathing and proper application of the bland creams and ointments discussed previously. […] In addition, patients diagnosed with ichthyosis should be aware of the lifelong course of this group of disorders, as there is currently no cure. […] To decrease potential risks for the development of atopic disorders, individuals diagnosed with ichthyosis vulgaris should be advised to avoid certain environmental risk factors including professions involving wet work or excessive metal and contact irritant exposure.

• #2 Managing Ichthyosis in the General Dermatology Office

  https://www.dermatologytimes.com/view/managing-ichthyosis-in-the-general-dermatology-office

  Not every ichthyosis patient has to be referred to an expert. […] To help colleagues recognize and develop a treatment approach to ichthyosis, Bunick published guidelines with Evelyn Lilly, MD, that map out different clinical approaches. Initial considerations for the management of ichthyosis include genetic testing, neonates, bathing practices, exfoliation, moisturizers, health monitoring, retinoids, and thermodysregulation. […] If a patient isnt responding to typical moisturizing, that raises the question of patient quality of life, according to Bunick. […] Genetic testing might be a great start and in this particular patient, they had a steroid sulfatase mutation which is associated with X-linked recessive ichthyosis. […] TMB-001, a topical isotretinoin formulation, is currently in development for the treatment of congenital ichthyosis.

• #2 Treatment of Harlequin Ichthyosis With Acitretin | Actas Dermo-Sifiliográficas

  https://actasdermo.org/en-treatment-harlequin-ichthyosis-with-acitretin-articulo-S1578219015002589

  Harlequin ichthyosis is the most severe autosomal recessive congenital ichthyosis caused by homozygotic mutations of the ABCA12 gene. […] Systemic treatment with acitretin was started on the ninth day of life at a dose of 0.5mg/kg/d, increased to 1mg/kg/d after 2 months. […] The systemic retinoids are associated with increased survival to 2 to 20 years of age. Acitretin is the drug of choice because of its shorter plasma half-life, which reduces side effects. Prior to its introduction, mortality was around 70% in the first weeks of life. However, it is difficult to carry out clinical efficacy trials because of the very low prevalence of harlequin ichthyosis and because neonatal intensive care (fluid and electrolyte support, topical emollients and keratolytic agents, debridement of constricting bands, monitoring for infection) is also crucial to the prognosis.

• #2 Managing Ichthyosis in the General Dermatology Office

  https://www.dermatologytimes.com/view/managing-ichthyosis-in-the-general-dermatology-office

  The advantage of TMB-001 is that its designed to limit systemic retinoid exposure and reduces adverse effect risks of systemics or retinoids. […] In the phase 2b CONTROL study, 64% of patients treated with TMB-001 0.05% in the intent to treat population achieved Visual Index for Ichthyosis Severity (VIIS-50) reduction of 50% or more. […] According to Bunick, the systemic exposure to isotretinoin and its metabolites from this topical form of isotretinoin is near 0.

• #2 Family

  https://patents.google.com/patent/US20100210578A1/en

  agents which are able to induce the read-through of nonsense mutations. […] One class of agents are certain aminoglycoside antibiotics, including gentamicin, paromomycin, neomycin and tobramycin. […] the loss of function mutations which may be overcome are generally nonsense mutations. […] the subject may be any subject requiring to be treated, prophylactically or therapeutically and may suitably be a newborn or even a foetus. […] the present invention also provides a method of identifying such suppressors. […] a method of testing an agent for its ability to read-through a nonsense mutation comprising the steps of: a) providing a mutant filaggrin gene/reporter gene construct; b) contacting a test agent with said construct; and c) detecting whether or not the test agent is capable of effecting read-through of the mutant filaggrin gene and expression of a reporter gene. […] the method may be carried out in cell based or cell-free systems known in the art.

• #2 Overcoming the Barrier Treatment of Ichthyosis: A Combination-therapy Approach | JCAD – The Journal of Clinical and Aesthetic Dermatology

  https://jcadonline.com/overcoming-the-barrier-treatment-of-ichthyosis-a-combination-therapy-approach/

  Ichthyosis vulgaris is an inherited disorder of keratinization that results in asteatotic scales on extensor surfaces of the arm, legs, and trunk. A combination-therapy approach with a physiological lipid-based barrier repair topical emulsion and ammonium lactate 12% lotion applied topically was shown to be effective at four-week follow up without any untoward side effects. This combination therapy addresses the importance of caring for both the corneocytes (bricks) and the intercellular lipid bilayer (mortar) for optimal benefit. […] Treatment should be directed toward caring for both bricks and mortar components of the stratum corneum. The combination therapy of Ec and AL 12% lotion addresses both elements in order to optimize treatment for the IV patient.

• #2 Ichthyosis: Types, Symptoms, & Treatment

  https://www.webmd.com/skin-problems-and-treatments/what-is-ichthyosis

  You can’t make ichthyosis go away. But there’s a lot you can do to make it feel better and help with your symptoms. Some steps you can take include: […] Taking baths or other steps to add moisture to your skin. […] Staying cool. Heat and sweat can make it worse. […] Use a humidifier to keep heat and air conditioning from drying out your skin. […] Wear loose clothes that are cotton or another fabric that doesn’t bother your skin. […] Avoid laundry detergents or other products with dyes and perfumes. […] It always helps to find other people with the same condition. They can be a source of support and have ideas for things to try. Look for a support group online or where you live with other people who have ichthyosis. If you’re struggling with your skin condition, reach out to a mental health professional.

• #2

  https://link.springer.com/article/10.1007/s13555-024-01239-4

  Advancements in the molecular genetics of ichthyosis, two rare inherited skin conditions, have enabled the identification of genetic variants that cause these diseases. […] Gene and cell therapies aim to address the underlying genetic causes of disease and have already shown success in the clinic. […] Gene therapy for the most common type of ichthyosis, lamellar ichthyosis caused by biallelic pathogenic variants in TGM1, is currently being developed using an engineered herpes simplex virus type 1 vector. […] Due to their rare and ultrarare incidence, gene therapy for the ichthyoses is rarely investigated. However, gene therapy for ichthyosis is a promising therapeutic approach due to the monogenic nature and tissue accessibility associated with this condition. […] Lamellar ichthyosis typically presents at birth with a collodion membrane, which is replaced by large, brown, plate-like scales in a generalized distribution. […] In 2021, Freedman et al. described a modified herpes simplex virus type 1 vector (KB105) encoding human TGM1 for the treatment of ARCI. […] KB105 efficiently transduced TGM1-deficient human keratinocytes, promoted TGM1 expression, and rescued enzymatic deficiency.

• #2 Treatment of Harlequin Ichthyosis With Acitretin | Actas Dermo-Sifiliográficas

  https://www.actasdermo.org/en-treatment-harlequin-ichthyosis-with-acitretin-articulo-S1578219015002589

  Harlequin ichthyosis is the most severe autosomal recessive congenital ichthyosis caused by homozygotic mutations of the ABCA12 gene. […] Systemic treatment with acitretin was started on the ninth day of life at a dose of 0.5mg/kg/d, increased to 1mg/kg/d after 2 months. […] The systemic retinoids are associated with increased survival to 2 to 20 years of age. Acitretin is the drug of choice because of its shorter plasma half-life, which reduces side effects. […] However, it is difficult to carry out clinical efficacy trials because of the very low prevalence of harlequin ichthyosis and because neonatal intensive care (fluid and electrolyte support, topical emollients and keratolytic agents, debridement of constricting bands, monitoring for infection) is also crucial to the prognosis.

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