DiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesInformation Science
IchthyosisHypotrichosisIchthyosiform Erythroderma, CongenitalIchthyosis, LamellarGenes, RecessiveIchthyosis VulgarisIchthyosis, X-LinkedConsanguinitySteryl-SulfatasePedigreeHyperkeratosis, EpidermolyticMutationArylsulfatasesHomozygoteKeratolytic AgentsEncyclopedias as TopicProcollagen-Proline DioxygenaseCytochrome P-450 Enzyme SystemFatty AcidsMixed Function OxygenasesHydroxylationCytochrome c Group
Harlequin ichthyosisCongenital ichthyosiform erythrodermaARCIIchthyosiformVulgarisMutationsFoundation for IchthyosisGeneticEpidemiologyTGM1PrevalenceGenesNonsyndromicABCA12Consensus ConferenceHereditaryDisordersSevereForm the skin'sSystemicUptakeSyndromeDiagnosisPatientsLipidGeneticsEpidermalIndividualsIsotretinoinSignificantlyScalesFrequentInfectionsExcessivePeople
Harlequin ichthyosis19
  • Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. (medscape.com)
  • [ 1 ] Harlequin ichthyosis is characterized by a profound thickening of the keratin layer in fetal skin. (medscape.com)
  • The underlying genetic abnormality in harlequin ichthyosis is a mutation in the lipid-transporter gene ABCA12 on chromosome 2. (medscape.com)
  • In the past, harlequin ichthyosis was uniformly fatal. (medscape.com)
  • In harlequin ichthyosis, the ABCA12 -mediated transfer of lipid to lamellar granules is defective. (medscape.com)
  • In vitro studies have demonstrated normalization of lipid transport when the wild-type ABCA12 gene is transferred to keratinocytes of patients with harlequin ichthyosis. (medscape.com)
  • Although most neonates with ARCI are collodion babies, the clinical presentation and severity of ARCI may vary significantly, ranging from harlequin ichthyosis, the most severe and often fatal form, to lamellar ichthyosis (LI) and (nonbullous) congenital ichthyosiform erythroderma (CIE). (nih.gov)
  • Infants with harlequin ichthyosis are usually born prematurely and are encased in thick, hard, armor-like plates of cornified skin that severely restrict movement. (nih.gov)
  • Newborns with harlequin ichthyosis require management in a neonatal intensive care unit. (medscape.com)
  • Once stabilized, transfer newborn with harlequin ichthyosis to a NICU. (medscape.com)
  • Neonates with harlequin ichthyosis initially do not feed well and may require tube feeding. (medscape.com)
  • Infants with harlequin ichthyosis can be successfully breastfed or bottle-fed as the eclabium improves. (medscape.com)
  • [ 4 ] Hypothyroidism and juvenile idiopathic arthritis have been reported in a patient with harlequin ichthyosis. (medscape.com)
  • Approximately 200 cases of harlequin ichthyosis have been reported. (medscape.com)
  • No racial predilection is known for harlequin ichthyosis. (medscape.com)
  • Recent advances in the genetics and management of harlequin ichthyosis. (medscape.com)
  • These different phenotypes have been termed lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE), and harlequin ichthyosis (HI). (firstskinfoundation.org)
  • Despite of the clinical presentation, we demonstrated that the affected patients were genetically double heterozygous for two different mutations in the ABCA12 gene, known to be responsible for harlequin ichthyosis. (bvsalud.org)
  • Some occur in isolation and are not part of a syndrome (eg, ichthyosis vulgaris, X-linked ichthyosis, lamellar ichthyosis, congenital ichthyosiform erythroderma [epidermolytic hyperkeratosis], harlequin ichthyosis). (msdmanuals.com)
Congenital ichthyosiform erythroderma3
  • Patients who survive manifest a debilitating, persistent ichthyosis similar to severe congenital ichthyosiform erythroderma. (medscape.com)
  • [ 5 ] Missense mutations in ABCA12 result in milder autosomal recessive congenital ichthyosis phenotypes such as lamellar ichthyosis and congenital ichthyosiform erythroderma. (medscape.com)
  • The main skin phenotypes are lamellar ichthyosis (LI) and nonbullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur (summary by Fischer, 2009). (nih.gov)
ARCI8
  • Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders of keratinization characterized primarily by abnormal skin scaling over the whole body. (nih.gov)
  • Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. (nih.gov)
  • Autosomal recessive congenital ichthyosis (ARCI) is a recently adopted term referring to a heterogeneous group of disorders that share an autosomal recessive pattern of inheritance, collodion membrane presentation at birth and overlap in causative gene mutations. (firstskinfoundation.org)
  • Transglutaminase-1 (TG1)-deficient autosomal-recessive congenital ichthyosis (ARCI) is a rare and severe genetic skin disease caused by mutations in TGM1. (uc3m.es)
  • Treatment with rhTG1 liposomes resulted in considerable improvement of the ichthyosis phenotype and in normalization of the regenerated ARCI skin: in situ monitoring showed a restoration of TG1 activity, and cholesterol clefts vanished ultrastructurally. (uc3m.es)
  • In a study known as CONTROL, he and his colleagues evaluated the effect of TMB-001 on two subtypes of congenital ichthyosis: X-linked recessive ichthyosis (XLRI) and autosomal recessive congenital ichthyosis-lamellar ichthyosis (ARCI-LI). (medscape.com)
  • For the current trial, 33 patients 9 years of age and older with genetically confirmed XLRI/ARCI-LI and ≥ 2 (out of 4) Visual Index for Ichthyosis Severity (VIIS) assessment areas with a ≥ 3 scaling score were randomized 1:1:1 to TMB-001 0.05%, TMB-001 0.1%, or vehicle twice daily for 12 weeks. (medscape.com)
  • Self-improving collodion ichthyosis (SICI) is a relatively rare subtype of autosomal recessive congenital ichthyosis (ARCI) that is often characterized by a collodion baby (CB) phenotype at birth. (bvsalud.org)
Ichthyosiform2
  • autosomal recessive inactivating mutations of CYP4F22 are associated with the Lamellar ichthyosis subtype of Congenital ichthyosiform erythrodema in humans. (wikipedia.org)
  • In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al. (nih.gov)
Vulgaris1
Mutations3
  • Mutations in lamellar ichthyosis usually (but not always) are transmitted through autosomal recessive inheritance. (firstskinfoundation.org)
  • Inherited ichthyoses represent a large group of monogenic Mendelian disorders of cornification due to mutations in genes involved in skin barrier function [ 1 ]. (biomedcentral.com)
  • Another example of a condition with skin and extracutaneous organ involvement is keratitis ichthyosis deafness (KID) syndrome, which is characterized by vascularizing keratitis, ichthyosis, and sensorineural hearing loss and caused by mutations in the connexin-26 gene. (msdmanuals.com)
Foundation for Ichthyosis2
Genetic4
  • 2005). For a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). (nih.gov)
  • METHODS: Ophthalmological exploration, pedigree analysis and genetic screening were performed in patients with an established clinical diagnosis of lamellar ichthyosis from families located in a small community in the Southeast of Mexico. (bvsalud.org)
  • Skin cells are created properly, but in Lamellar Ichthyosis (LI), a rare genetic condition, they do not split normally at the surface of the outermost layer of skin and are not removed as soon as they should be, which results in the creation of scale. (nagpurnewsdesk.net)
  • Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)
Epidemiology3
  • Understanding epidemiology of rare skin disorders such as ichthyosis is one of the main objectives advocated in the Plan Maladies Rares defined by the French Health ministry [ 17 ]. (biomedcentral.com)
  • Lamellar Ichthyosis Market Insights, Epidemiology, and Market Forecast-2032″ report offers an in-depth understanding of the Lamellar Ichthyosis, historical and forecasted epidemiology as well as the Lamellar Ichthyosis market trends in the 7MM. (nagpurnewsdesk.net)
  • DelveInsight's "Lamellar Ichthyosis Market Insights, Epidemiology, and Market Forecast-2032″ report offers an in-depth understanding of the Lamellar Ichthyosis, historical and forecasted epidemiology as well as the Lamellar Ichthyosis market trends in the United States, EU4 (Germany, Spain, Italy, France) the United Kingdom and Japan. (nagpurnewsdesk.net)
TGM12
  • The most common mutation in lamellar ichthyosis occurs in transglutaminase 1 ( TGM1 ), an important enzyme for allowing skin to mature and eventually shed. (firstskinfoundation.org)
  • PURPOSE: To describe the ocular clinical characteristics of a group of Mexican patients with lamellar ichthyosis (LI) arising from TGM1 pathogenic variants. (bvsalud.org)
Prevalence3
  • This study aims to evaluate the prevalence of inherited ichthyosis (excluding very mild forms) and its different clinical forms in France. (biomedcentral.com)
  • The objective of our study was to estimate the prevalence of inherited ichthyoses having a significant impact on QOL (excluding accordingly very mild forms) and to determine the prevalence of their different clinical forms. (biomedcentral.com)
  • The Lamellar Ichthyosis market is expected to surge due to the disease's increasing prevalence and awareness during the forecast period. (nagpurnewsdesk.net)
Genes1
Nonsyndromic1
  • Besides these major forms of nonsyndromic ichthyosis, a few rare subtypes have been recognized, such as bathing suit ichthyosis, self-improving collodion ichthyosis, or ichthyosis-prematurity syndrome. (nih.gov)
ABCA121
  • This ABCA12 -mediated lipid-transfer system is essential to the transfer of lipids from the cytosol of the corneocyte into lamellar granules. (medscape.com)
Consensus Conference1
  • Oji V, Tadini G, Akiyama M, Blanchet Bardon C, Bodemer C, Bourrat E. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. (medscape.com)
Hereditary1
Disorders2
  • Inherited ichthyoses represent a group of rare skin disorders characterized by scaling, hyperkeratosis and inconstant erythema, involving most of the tegument. (biomedcentral.com)
  • Ichthyoses are genetically determined cornification disorders of the epidermis characterized by the presence of different degrees of scaling, hyperkeratosis, and erythroderma often associated with palmoplantar keratoderma. (bvsalud.org)
Severe2
  • Ichthyosis is scaling and flaking of skin ranging from mild but annoying dryness to severe disfiguring disease. (msdmanuals.com)
  • Ichthyosis can also be much more severe than xeroderma. (msdmanuals.com)
Form the skin's1
  • When he's not caring for his patients, Dr. Bunick, who is an assistant professor of dermatology for Yale School of Medicine, conducts research on the three-dimensional protein structures that form the skin's barrier. (yalemedicine.org)
Systemic1
Uptake2
  • The drugs uptake section focuses on the rate of uptake of the potential drugs recently launched in the Lamellar Ichthyosis market or expected to get launched during the study period. (nagpurnewsdesk.net)
  • The analysis covers Lamellar Ichthyosis market uptake by drugs, patient uptake by therapies, and sales of each drug. (nagpurnewsdesk.net)
Syndrome1
  • Other ichthyoses are part of a syndrome that involves multiple organs. (msdmanuals.com)
Diagnosis1
  • The target population consisted of patients suffering from inherited ichthyosis with a confirmed diagnosis performed by a physician at a given time of their illness. (biomedcentral.com)
Patients4
  • According to statistical requirements, 3 different lists (reference/competence centres, French association of patients with ichthyosis and internet network) were used to record such patients. (biomedcentral.com)
  • Patients suffering from such inherited ichthyoses are primarily diagnosed by private or hospital physicians and subsequently usually followed in hospital. (biomedcentral.com)
  • Patients with recessive X-linked and autosomal recessive lamellar congenital ichthyosis (CI) achieved treatment success with a novel topical isotretinoin ointment known as TMB-001, results from a phase 2b study demonstrated. (medscape.com)
  • My hope is to better understand the molecular mechanisms of the skin barrier, and translate that into better topical therapies for skin issues my patients face," Dr. Bunick says. (yalemedicine.org)
Lipid1
  • The terminal differentiation of the epidermis is perturbed in both forms, leading to a reduced barrier function and defects of lipid composition in the stratum corneum (summary by Lefevre et al. (nih.gov)
Genetics1
Epidermal3
  • Immunohistocytochemical examination of the skin reveals characteristic abnormalities in the structure of lamellar granules and in the expression of epidermal keratin. (medscape.com)
  • Measurement of TEWL revealed a restoration of epidermal barrier function. (uc3m.es)
  • We conclude that this topical approach is a promising strategy for restoring epidermal integrity and barrier function and provides a causal cure for individuals with TG1 deficiency. (uc3m.es)
Individuals1
  • In individuals with the lamellar ichthyosis phenotype, shedding of the collodion membrane reveals dark, plate-like adherent scales with intervening cracks that cover most of the body surface. (firstskinfoundation.org)
Isotretinoin3
  • He noted that while he is not privy to details of TMB-001's IPEG delivery system, "the way they have used polyethylene glycol to encapsulate the isotretinoin allows for greater barrier penetration and reduces a lot of the tolerability issues that are seen with other topical retinoids. (medscape.com)
  • The patented delivery system is not only designed to help the isotretinoin do its job, but also to provide that stability and the ability to compound it, which have been barriers to success in the past. (medscape.com)
  • The CONTROL study: A randomized, double-blind vehicle-controlled Phase 2b study of novel topical isotretinoin formulation demonstrates improvement in recessive X-linked and autosomal recessive lamellar congenital ichthyosis. (yalemedicine.org)
Significantly1
Scales1
  • Following shedding of the collodion membrane, the skin is red (erythroderma) and covered with fine, white scales (ichthyosis). (nih.gov)
Frequent1
  • Ectropion, eclabium, scalp involvement, and loss of eyebrows and lashes seem to be more frequent in NCIE than in lamellar ichthyosis (summary by Fischer et al. (nih.gov)
Infections1
  • People with lamellar ichthyosis are at risk for superficial infections of their skin by fungus or bacteria as well as heat intolerance due to decreased sweating. (firstskinfoundation.org)
Excessive1
  • The skin barrier is severely compromised, leading to excessive water loss, electrolyte abnormalities, temperature dysregulation, and an increased risk of life-threatening infection. (medscape.com)
People1