OrganismsDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesHealth Care
IchthyosisHypotrichosisIchthyosis, LamellarIchthyosiform Erythroderma, CongenitalGenes, RecessiveIchthyosis VulgarisIchthyosis, X-LinkedFlushingEtretinateNosemaConsanguinitySteryl-SulfataseApoptosis Inducing FactorCystatin MBeetlesPedigreeHorner SyndromeIntroduced Speciesp-HydroxyamphetamineHyperkeratosis, EpidermolyticMycobacteriaceaeFacial DermatosesMutationArylsulfatasesHomozygotePhenotypeKeratolytic Agents
CongenitalIchthyosiform erythrodermaErythrodermaVulgarisARCIDeafnessFoundation for IchthyosisPrematurity syndromePhenotypesMutationsSyndromeGeneticABCA12Collodion membraneConsensus ConferenceGenesGeneticsInfantsStratumTGM1SevereNCIEAbnormalFatalInfectionsBirthDiseaseDiagnosisCharacteristicTermEvidenceFamilyCasesChild
Congenital19
  • Congenital ichthyosiform erythroderma, also known as nonbullous congenital ichthyosiform erythroderma,: 484 is a rare type of the ichthyosis family of skin diseases which occurs in 1 in 200,000 to 300,000 births. (wikipedia.org)
  • The disease comes under the umbrella term autosomal recessive congenital ichthyosis, which include non-syndromic congenital ichthyoses such as harlequin ichthyosis and lamellar ichthyosis. (wikipedia.org)
  • Eclabium (eversion of the lips), ectropion and alopecia (hair loss) are more common in congenital ichthyosiform erythroderma than in lamellar ichthyosis. (wikipedia.org)
  • non-primary source needed] Congenital ichthyosiform erythroderma can present very similarly to lamellar ichthyosis and they often share characteristics, though the two conditions can often be differentiated by the appearance of the scales. (wikipedia.org)
  • Scales on patients with congenital ichthyosiform erythroderma are fine and white on skin with erythema while they appear larger and greyer on the limbs, compared to lamellar ichthyosis where scales appear large and dark. (wikipedia.org)
  • non-primary source needed] Congenital ichthyosiform erythroderma is an autosomal recessive genetic disorder. (wikipedia.org)
  • Harlequin ichthyosis is the most severe form of autosomal recessive congenital ichthyosis. (medscape.com)
  • 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)
  • Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of skin disorders. (bmj.com)
  • Autosomal recessive congenital ichthyosis (ARCI) encompasses several forms of nonsyndromic ichthyosis. (nih.gov)
  • 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)
  • 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)
  • 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)
  • 2005). For a discussion of genetic heterogeneity of autosomal recessive congenital ichthyosis, see ARCI1 (242300). (nih.gov)
  • Congenital ichthyoses can have devastating medical and social consequences. (medscape.com)
  • 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)
  • 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)
  • These different phenotypes have been termed lamellar ichthyosis (LI), congenital ichthyosiform erythroderma (CIE), and harlequin ichthyosis (HI). (firstskinfoundation.org)
Ichthyosiform erythroderma1
  • Lawlor F. Progress of a harlequin fetus to nonbullous ichthyosiform erythroderma. (medscape.com)
Erythroderma1
  • Following shedding of the collodion membrane, the skin is red (erythroderma) and covered with fine, white scales (ichthyosis). (nih.gov)
Vulgaris1
ARCI1
  • The characteristic findings using electron microscopy (EM) were abnormal lamellar bodies and elongated membranes in the stratum granulosum, classified as ARCI EM type III. (bmj.com)
Deafness1
  • 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
Prematurity syndrome1
  • 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)
Phenotypes1
  • In addition, mutations in several genes have been shown to cause both lamellar and nonbullous ichthyosiform erythrodermal phenotypes (Akiyama et al. (nih.gov)
Mutations1
Syndrome3
  • Other ichthyoses are part of a syndrome that involves multiple organs. (msdmanuals.com)
  • Kindler syndrome has an autosomal recessive pattern of inheritance. (en-academic.com)
  • Kindler syndrome is an autosomal recessive genodermatosis . (en-academic.com)
Genetic2
  • The underlying genetic abnormality in harlequin ichthyosis is a mutation in the lipid-transporter gene ABCA12 on chromosome 2. (medscape.com)
  • Autosomal Recessive Genetic disorders determined by a single gene (Mendelian disorders) are easiest to analyze and the most well understood. (msdmanuals.com)
ABCA123
  • This ABCA12 -mediated lipid-transfer system is essential to the transfer of lipids from the cytosol of the corneocyte into lamellar granules. (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)
Collodion membrane2
  • 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)
  • Even after shedding of the collodion membrane, people with lamellar ichthyosis often have trouble closing their eyes completely because of the tightness of the skin around the eyes and eyelids. (firstskinfoundation.org)
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)
Genes1
Genetics2
Infants1
  • 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)
Stratum2
  • Measuring in situ TG1 activity in cryostat section Electron microscopy - cholesterol clefts in stratum corneum Ichthyosis Lamellar ichthyosis Collodion baby List of cutaneous conditions Freedberg IM, Fitzpatrick TB (2003). (wikipedia.org)
  • Lamellar granules are intracellular granules that originate from the Golgi apparatus of keratinocytes in the stratum corneum. (medscape.com)
TGM11
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)
NCIE1
  • 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)
Abnormal1
  • The lamellar granules themselves are morphologically abnormal or absent. (medscape.com)
Fatal1
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)
Birth1
Disease1
Diagnosis1
  • S1 guidelines for the diagnosis and treatment of ichthyoses - update" (PDF). (wikipedia.org)
Characteristic1
  • Immunohistocytochemical examination of the skin reveals characteristic abnormalities in the structure of lamellar granules and in the expression of epidermal keratin. (medscape.com)
Term1
  • The term harlequin derives from the facial appearance and the triangular and diamond-shaped pattern of hyperkeratosis. (medscape.com)
Evidence1
Family1
Cases1
Child1