Upload File

hereditary and acquired ichthyosis vulgaris_ background, pathophysiology, epidemiology

  • Home
  • Documents
  • Hereditary and Acquired Ichthyosis Vulgaris_ Background, Pathophysiology, Epidemiology
4
Hereditary and Acquired Ichthyosis Vulgaris Author: Robert A Schwartz, MD, MPH; Chief Editor: Dirk M Elston, MD more... Updated: May 28, 2015 Background Hereditary ichthyosis vulgaris and acquired ichthyosis vulgaris, members of a group of cutaneous disorders of keratinization, appear similar both clinically and histologically. The term ichthyosis is derived from the ancient Greek root ichthys, meaning fish. Although the resemblance is rather fanciful, it nevertheless conveys the characteristic features of these diseases. References to ichthyosis have been found in ancient medical texts aged more than 2000 years. Robert Wilan first made the most accurate description of ichthyosis in the English literature in 1808. Later modifications classified the diseases into hereditary and acquired forms. 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. It is caused by altered profilaggrin expression leading to scaling and desquamation. Visible scales are retained for longer periods and sloughed off in clumps. Hereditary ichthyosis is also associated with atopy. The protein filaggrin is important in maintaining effective skin barrier function. Lossoffunction mutations in the profilaggrin gene (FLG) are evident in up to 10% of the population, causing ichthyosis vulgaris [1] and representing a major risk factor for the development of atopic dermatitis. [2] This discovery, in 2006, represented a marked a breakthrough in the understanding of these disorders. [3] Acquired ichthyosis, usually appearing for the first time in adulthood, is a nonhereditary condition associated with internal disease. Acquired ichthyosis is rare and must be viewed as a marker of systemic disease, including malignancy. Cases have been attributed to the use of certain medications. Other Medscape Reference articles on ichthyosis include the following: Ichthyosis Fetalis Ichthyosis, Lamellar Ichthyosis (ophthalmology focus) Pathophysiology Ichthyosis vulgaris is classified as a retention hyperkeratosis. The only known molecular marker affected by hereditary ichthyosis vulgaris is profilaggrin, a high molecular weight filaggrin precursor. Profilaggrin, synthesized in the granular layer of the epidermis, is a major component of keratohyalin granules. Through various posttranslational modifications, profilaggrin is converted to filaggrin, which aggregates keratin intermediate filaments in the lower stratum corneum. Filaggrin is proteolyzed and metabolized, producing free amino acids that may play a critical role as waterbinding compounds in the upper stratum corneum. Normal cycles of skin hydration and dehydration contribute to normal desquamation. These cycles are disrupted in ichthyosis vulgaris. Normal expression of the profilaggrin gene can be first detected in the granular layer. In ichthyosis vulgaris, the expression of profilaggrin is absent or reduced in the epidermis. This biochemical abnormality correlates with the decreased numbers of keratohyalin granules and the clinical severity of the condition. Analyses of cultured keratinocytes have shown reduced profilaggrin mRNA. Compared with normal amounts, one study found only 50% of the profilaggrin mRNA and 10% of the profilaggrin protein present. Research has shown that defective posttranscriptional regulation leads to decreased stability of profilaggrin mRNA. The profilaggrin gene is part of a cluster of genes on 1q21 that encodes for structural proteins expressed in terminally differentiating epidermis. This complex, called the epidermal differentiation complex, involves many genes involved in this process. An adjacent region on 1q22 may also be involved. [4, 5] The underlying molecular mechanisms contributing to the pathophysiology of this disease have not yet been determined. Studies are currently underway in humans and mouse models. An association exists between filaggrin null mutations of ichthyosis vulgaris and atopic dermatitis. [6, 7] Two common filaggrin (FLG) null mutations cause ichthyosis vulgaris and predispose to eczema and secondary allergic diseases. Comprehensive analysis of the gene encoding filaggrin uncovered prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. [8] These common European mutations are ancestral variants carried on conserved haplotypes. Fifteen variants were described, including 7 that are prevalent, all being either nonsense or frameshift mutations that, in representative cases, resulted in loss of filaggrin production in the epidermis. Filaggrin mutations p.R501X and c.2282del4 were analyzed in patients with ichthyosis vulgaris. [9] Homozygotes and compound heterozygotes may be severely affected, whereas heterozygotes showed mild disease or were asymptomatic, suggesting semidominant inheritance with incomplete penetrance in heterozygotes. The presence of FLG mutations in 15 of 21 ichthyosis vulgaris patients were studied with a marked generalized scaling phenotype, including 8 affected members of a 4generation family. In this group, heterozygous patients for p.R501X and c.2282del4 also displayed a pronounced phenotype. Filaggrin mutation c.3321delA was identified in a Korean patient with ichthyosis vulgaris and atopic dermatitis. [10] Mutations R501X and 2282del4 represent the most frequent genetic cause in German ichthyosis vulgaris patients, but are probably population and family specific. [11] Filaggrin mutations were identified in 3 Chinese pedigrees with ichthyosis vulgaris, 2 having novel FLG null mutations (c.477478insA and c.62186219delAA) and a known mutation (c.3321delA). [12] The proband of one pedigree was compound heterozygous for these mutations, yet had a mild phenotype. 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. [13, 14] Mutations at any site within FLG appear to cause significant effects, possibly accounting for the lack of genotype phenotype correlation observed in patients with FLG mutations. [15]

Upload: plot-bunnies

Post on 06-Nov-2015

3 views

Category:

Documents


1 download

Report

DESCRIPTION

Iktiosis, source medscape

TRANSCRIPT

  • 6/17/2015 HereditaryandAcquiredIchthyosisVulgaris:Background,Pathophysiology,Epidemiology

    http://emedicine.medscape.com/article/1112753overview#showall 1/4

    HereditaryandAcquiredIchthyosisVulgarisAuthor:RobertASchwartz,MD,MPHChiefEditor:DirkMElston,MDmore...

    Updated:May28,2015

    BackgroundHereditaryichthyosisvulgarisandacquiredichthyosisvulgaris,membersofagroupofcutaneousdisordersofkeratinization,appearsimilarbothclinicallyandhistologically.ThetermichthyosisisderivedfromtheancientGreekrootichthys,meaningfish.Althoughtheresemblanceisratherfanciful,itneverthelessconveysthecharacteristicfeaturesofthesediseases.Referencestoichthyosishavebeenfoundinancientmedicaltextsagedmorethan2000years.RobertWilanfirstmadethemostaccuratedescriptionofichthyosisintheEnglishliteraturein1808.Latermodificationsclassifiedthediseasesintohereditaryandacquiredforms.

    Hereditaryichthyosisvulgarisisanautosomaldominantgeneticdisorderfirstevidentinearlychildhood.Itisthemostcommonformofichthyosis,accountingformorethan95%ofichthyosiscases.Itiscausedbyalteredprofilaggrinexpressionleadingtoscalinganddesquamation.Visiblescalesareretainedforlongerperiodsandsloughedoffinclumps.Hereditaryichthyosisisalsoassociatedwithatopy.Theproteinfilaggrinisimportantinmaintainingeffectiveskinbarrierfunction.Lossoffunctionmutationsintheprofilaggringene(FLG)areevidentinupto10%ofthepopulation,causingichthyosisvulgaris[1]andrepresentingamajorriskfactorforthedevelopmentofatopicdermatitis.[2]Thisdiscovery,in2006,representedamarkedabreakthroughintheunderstandingofthesedisorders.[3]

    Acquiredichthyosis,usuallyappearingforthefirsttimeinadulthood,isanonhereditaryconditionassociatedwithinternaldisease.Acquiredichthyosisisrareandmustbeviewedasamarkerofsystemicdisease,includingmalignancy.Caseshavebeenattributedtotheuseofcertainmedications.

    OtherMedscapeReferencearticlesonichthyosisincludethefollowing:

    IchthyosisFetalisIchthyosis,LamellarIchthyosis(ophthalmologyfocus)

    PathophysiologyIchthyosisvulgarisisclassifiedasaretentionhyperkeratosis.Theonlyknownmolecularmarkeraffectedbyhereditaryichthyosisvulgarisisprofilaggrin,ahighmolecularweightfilaggrinprecursor.Profilaggrin,synthesizedinthegranularlayeroftheepidermis,isamajorcomponentofkeratohyalingranules.Throughvariousposttranslationalmodifications,profilaggrinisconvertedtofilaggrin,whichaggregateskeratinintermediatefilamentsinthelowerstratumcorneum.Filaggrinisproteolyzedandmetabolized,producingfreeaminoacidsthatmayplayacriticalroleaswaterbindingcompoundsintheupperstratumcorneum.Normalcyclesofskinhydrationanddehydrationcontributetonormaldesquamation.Thesecyclesaredisruptedinichthyosisvulgaris.

    Normalexpressionoftheprofilaggringenecanbefirstdetectedinthegranularlayer.Inichthyosisvulgaris,theexpressionofprofilaggrinisabsentorreducedintheepidermis.Thisbiochemicalabnormalitycorrelateswiththedecreasednumbersofkeratohyalingranulesandtheclinicalseverityofthecondition.AnalysesofculturedkeratinocyteshaveshownreducedprofilaggrinmRNA.Comparedwithnormalamounts,onestudyfoundonly50%oftheprofilaggrinmRNAand10%oftheprofilaggrinproteinpresent.ResearchhasshownthatdefectiveposttranscriptionalregulationleadstodecreasedstabilityofprofilaggrinmRNA.

    Theprofilaggringeneispartofaclusterofgeneson1q21thatencodesforstructuralproteinsexpressedinterminallydifferentiatingepidermis.Thiscomplex,calledtheepidermaldifferentiationcomplex,involvesmanygenesinvolvedinthisprocess.Anadjacentregionon1q22mayalsobeinvolved.[4,5]Theunderlyingmolecularmechanismscontributingtothepathophysiologyofthisdiseasehavenotyetbeendetermined.Studiesarecurrentlyunderwayinhumansandmousemodels.

    Anassociationexistsbetweenfilaggrinnullmutationsofichthyosisvulgarisandatopicdermatitis.[6,7]Twocommonfilaggrin(FLG)nullmutationscauseichthyosisvulgarisandpredisposetoeczemaandsecondaryallergicdiseases.Comprehensiveanalysisofthegeneencodingfilaggrinuncoveredprevalentandraremutationsinichthyosisvulgarisandatopiceczema.[8]ThesecommonEuropeanmutationsareancestralvariantscarriedonconservedhaplotypes.Fifteenvariantsweredescribed,including7thatareprevalent,allbeingeithernonsenseorframeshiftmutationsthat,inrepresentativecases,resultedinlossoffilaggrinproductionintheepidermis.

    Filaggrinmutationsp.R501Xandc.2282del4wereanalyzedinpatientswithichthyosisvulgaris.[9]Homozygotesandcompoundheterozygotesmaybeseverelyaffected,whereasheterozygotesshowedmilddiseaseorwereasymptomatic,suggestingsemidominantinheritancewithincompletepenetranceinheterozygotes.ThepresenceofFLGmutationsin15of21ichthyosisvulgarispatientswerestudiedwithamarkedgeneralizedscalingphenotype,including8affectedmembersofa4generationfamily.Inthisgroup,heterozygouspatientsforp.R501Xandc.2282del4alsodisplayedapronouncedphenotype.Filaggrinmutationc.3321delAwasidentifiedinaKoreanpatientwithichthyosisvulgarisandatopicdermatitis.[10]MutationsR501Xand2282del4representthemostfrequentgeneticcauseinGermanichthyosisvulgarispatients,butareprobablypopulationandfamilyspecific.[11]

    Filaggrinmutationswereidentifiedin3Chinesepedigreeswithichthyosisvulgaris,2havingnovelFLGnullmutations(c.477478insAandc.62186219delAA)andaknownmutation(c.3321delA).[12]Theprobandofonepedigreewascompoundheterozygousforthesemutations,yethadamildphenotype.

    MutationsinthegeneencodingfilaggrinhavebeenidentifiedasthecauseofichthyosisvulgarisandshowntobemajorpredisposingfactorsforatopicdermatitisbothinEuropeanandJapanesepopulations.[13,14]

    MutationsatanysitewithinFLGappeartocausesignificanteffects,possiblyaccountingforthelackofgenotypephenotypecorrelationobservedinpatientswithFLGmutations.[15]

  • 6/17/2015 HereditaryandAcquiredIchthyosisVulgaris:Background,Pathophysiology,Epidemiology

    http://emedicine.medscape.com/article/1112753overview#showall 2/4

    ThepercentageofmutationsintheFLGgenewas74%withisolatedichthyosisvulgariscomparedwith43%inpatientswithatopicdermatitisassociatedichthyosisvulgaris.[16]Thus,itappearsfactorsotherthanFLGgenemutationscandownregulateprofilaggrin/filaggrinexpression,leadingtotheichthyosiformphenotypeinthecontextofatopicdermatitis.Interestingly,acompletefilaggrindeficiency,butnotapartialone,isassociatedwithonlymoderatechangesintransepidermalwaterlossandskinhydration.[17]

    Epidemiology

    Frequency

    UnitedStates

    HereditaryichthyosisvulgarisisacommondiseaseintheUnitedStates,withaprevalenceofapproximately1casein300persons.Becausesymptomsimprovewithage,thetrueprevalenceisprobablyhigher.Acquiredichthyosisisextremelyrare.ItsprevalenceintheUnitedStatesisunknown.

    International

    Hereditaryichthyosisvulgarisisfoundworldwide,andtheprevalencedependsonthelocation.OnestudyinBerkshire,England,observedafrequencyof1casein250schoolchildren.Acquiredichthyosisisextremelyrare.Itsprevalenceworldwideisunknown.

    Mortality/Morbidity

    Childrenandadolescentswithhereditaryichthyosisvulgarismayexperiencesomemorbidityintermsofcosmesis.Secondaryinfectionsmayoccurinfissuresofthehandsandfeet.Themorbidityandmortalityofacquiredichthyosisinadultsisduetoassociatedinternaldisease.

    Race

    Hereditaryandacquiredichthyosisvulgarishavenoknownracialpredisposition.

    Sex

    Hereditaryandacquiredichthyosisoccurequallyinmenandwomen.

    Age

    Hereditaryichthyosisvulgaristypicallyisabsentatbirth.Itappearsinmostpatientsduringthefirstyearoflifeandinthevastmajoritybyage5years.Theextentofscalingusuallyintensifiesupuntilpubertyandsubsequentlydecreaseswithage.

    Acquiredichthyosisusuallyfirstappearsinadulthoodhowever,ageassociatedsystemicdiseasesdooccurinchildren.

    ContributorInformationandDisclosuresAuthorRobertASchwartz,MD,MPHProfessorandHeadofDermatology,ProfessorofPathology,Pediatrics,Medicine,andPreventiveMedicineandCommunityHealth,RutgersNewJerseyMedicalSchoolVisitingProfessor,RutgersUniversitySchoolofPublicAffairsandAdministration

    RobertASchwartz,MD,MPHisamemberofthefollowingmedicalsocieties:AlphaOmegaAlpha,NewYorkAcademyofMedicine,AmericanAcademyofDermatology,AmericanCollegeofPhysicians,SigmaXi

    Disclosure:Nothingtodisclose.

    Coauthor(s)JasonFOkulicz,MD,FACP,FIDSADirector,HIVMedicalEvaluationUnit,InfectiousDiseaseService,SanAntonioMilitaryMedicalCenterAssociateProfessorofMedicine,FEdwardHebertSchoolofMedicine,UniformedServicesUniversityoftheHealthSciencesClinicalAssociateProfessorofMedicine,UniversityofTexasHealthScienceCenteratSanAntonioAdjunctClinicalInstructor,FeikSchoolofPharmacy,UniversityoftheIncarnateWord

    JasonFOkulicz,MD,FACP,FIDSAisamemberofthefollowingmedicalsocieties:AlphaOmegaAlpha,AmericanCollegeofPhysiciansAmericanSocietyofInternalMedicine,InfectiousDiseasesSocietyofAmerica

    Disclosure:Nothingtodisclose.

    SpecialtyEditorBoardDavidFButler,MDSectionChiefofDermatology,CentralTexasVeteransHealthcareSystemProfessorofDermatology,TexasA&MUniversityCollegeofMedicineFoundingChair,DepartmentofDermatology,ScottandWhiteClinic

    DavidFButler,MDisamemberofthefollowingmedicalsocieties:AmericanMedicalAssociation,AlphaOmegaAlpha,AssociationofMilitaryDermatologists,AmericanAcademyofDermatology,AmericanSocietyforDermatologicSurgery,AmericanSocietyforMOHSSurgery,PhiBetaKappa

    Disclosure:Nothingtodisclose.

    LesterFLibow,MDDermatopathologist,SouthTexasDermatopathologyLaboratory

    LesterFLibow,MDisamemberofthefollowingmedicalsocieties:AmericanAcademyofDermatology,AmericanSocietyofDermatopathology,TexasMedicalAssociation

    Disclosure:Nothingtodisclose.

    ChiefEditorDirkMElston,MDDirector,AckermanAcademyofDermatopathology,NewYork

  • 6/17/2015 HereditaryandAcquiredIchthyosisVulgaris:Background,Pathophysiology,Epidemiology

    http://emedicine.medscape.com/article/1112753overview#showall 3/4

    DirkMElston,MDisamemberofthefollowingmedicalsocieties:AmericanAcademyofDermatology

    Disclosure:Nothingtodisclose.

    AdditionalContributorsAlbertCYan,MDSectionChief,AssociateProfessor,DepartmentofPediatrics,SectionofDermatology,Children'sHospitalofPhiladelphiaandUniversityofPennsylvaniaSchoolofMedicine

    AlbertCYan,MDisamemberofthefollowingmedicalsocieties:AmericanAcademyofDermatology,SocietyforInvestigativeDermatology,SocietyforPediatricDermatology,AmericanAcademyofPediatrics

    Disclosure:Nothingtodisclose.

    References

    1. ThyssenJP,GodoyGijonE,EliasPM.Ichthyosisvulgaristhefilaggrinmutationdisease.BrJDermatol.2013Jan10.[Medline].

    2. McGrathJA,UittoJ.Thefilaggrinstory:novelinsightsintoskinbarrierfunctionanddisease.TrendsMolMed.2008Jan.14(1):207.[Medline].

    3. BrownSJ,McLeanWH.Oneremarkablemolecule:filaggrin.JInvestDermatol.2012Mar.132(3Pt2):75162.[Medline].

    4. ZhongW,CuiB,ZhangY,etal.Linkageanalysissuggestsalocusofichthyosisvulgarison1q22.JHumGenet.2003.48(7):3902.[Medline].

    5. LiuP,YangQ,WangX,etal.Identificationofageneticlocusforichthyosisvulgarisonchromosome10q22.3q24.2.JInvestDermatol.2008Jun.128(6):141822.[Medline].

    6. HanifinJM.Evolvingconceptsofpathogenesisinatopicdermatitisandothereczemas.JInvestDermatol.2009Feb.129(2):3202.[Medline].

    7. WingeMC,HoppeT,BerneB,VahlquistA,NordenskjldM,BradleyM,etal.Filaggringenotypedeterminesfunctionalandmolecularalterationsinskinofpatientswithatopicdermatitisandichthyosisvulgaris.PLoSOne.2011.6(12):e28254.[Medline].[FullText].

    8. SandilandsA,TerronKwiatkowskiA,HullPR,etal.Comprehensiveanalysisofthegeneencodingfilaggrinuncoversprevalentandraremutationsinichthyosisvulgarisandatopiceczema.NatGenet.2007May.39(5):6504.[Medline].

    9. GruberR,JaneckeAR,FauthC,UtermannG,FritschPO,SchmuthM.Filaggrinmutationsp.R501Xandc.2282del4inichthyosisvulgaris.EurJHumGenet.2007Feb.15(2):17984.[Medline].

    10. KangTW,LeeJS,OhSW,KimSC.Filaggrinmutationc.3321delAinaKoreanpatientwithichthyosisvulgarisandatopicdermatitis.Dermatology.2009.218(2):1867.[Medline].

    11. OjiV,SellerN,SandilandsA,etal.Ichthyosisvulgaris:novelFLGmutationsintheGermanpopulationandhighpresenceofCD1a+cellsintheepidermisoftheatopicsubgroup.BrJDermatol.2009Apr.160(4):77181.[Medline].

    12. XiongZ,LuoS,XuX,ZhangL,PengH,LiW,etal.NovelFLGmutationsassociatedwithichthyosisvulgarisintheChinesepopulation.ClinExpDermatol.2012Mar.37(2):17780.[Medline].

    13. NomuraT,SandilandsA,AkiyamaM,etal.UniquemutationsinthefilaggringeneinJapanesepatientswithichthyosisvulgarisandatopicdermatitis.JAllergyClinImmunol.2007Feb.119(2):43440.[Medline].

    14. NomuraT,AkiyamaM,SandilandsA,etal.SpecificfilaggrinmutationscauseichthyosisvulgarisandaresignificantlyassociatedwithatopicdermatitisinJapan.JInvestDermatol.2008Jun.128(6):143641.[Medline].

    15. AkiyamaM.FLGmutationsinichthyosisvulgarisandatopiceczema:spectrumofmutationsandpopulationgenetics.BrJDermatol.2010Mar.162(3):4727.[Medline].

    16. LiM,ChengR,ShiM,LiuJ,ZhangG,LiuQ,etal.AnalysesofFLGmutationfrequencyandfilaggrinexpressioninisolatedichthyosisvulgaris(IV)andatopicdermatitisassociatedIV.BrJDermatol.2013Jan5.[Medline].

    17. PerusquaOrtizAM,OjiV,SauerlandMC,TarinskiT,ZaraevaI,SellerN,etal.Completefilaggrindeficiencyinichthyosisvulgarisisassociatedwithonlymoderatechangesinepidermalpermeabilitybarrierfunctionprofile.JEurAcadDermatolVenereol.2013Jan7.[Medline].

    18. LpezAventnD,GallardoF,YbenesM,LloretaJ,PujolRM.AcquiredichthyosisassociatedwithprimarycutaneousCD30+lymphoproliferativedisorders.EurJDermatol.2014Feb3.[Medline].

    19. PatsatsiA,KyriakouA,KaravasilisV,TsatsouF,LazaridisG,KalabalikisD,etal.Acquiredichthyosistriggeredbyanosseoushemangiopericytoma:acasereportandreviewoftheliterature.CaseRepDermatol.2014Jan.6(1):105.[Medline].[FullText].

    20. LondonRD,LebwohlM.Acquiredichthyosisandhyperparathyroidism.JAmAcadDermatol.1989Oct.21(4Pt1):8012.[Medline].

    21. SpelmanLJ,StruttonGM,RobertsonIM,WeedonD.Acquiredichthyosisinbonemarrowtransplantrecipients.JAmAcadDermatol.1996Jul.35(1):1720.[Medline].

    22. KaplanMH,SadickNS,McNuttNS,TalmorM,CoronesiM,HallWW.AcquiredichthyosisinconcomitantHIV1andHTLVIIinfection:anewassociationwithintravenousdrugabuse.JAmAcadDermatol.1993Nov.29(5Pt1):7018.[Medline].

    23. LeeHW,AhnSJ,ChoiJC,etal.Acquiredichthyosisassociatedwithanoverlapsyndromeofsystemicsclerosisandsystemiclupuserythematosus.JDermatol.2006Jan.33(1):524.[Medline].

    24. UrrutiaS,VazquezF,RequenaL,SanchezYusE.Acquiredichthyosisassociatedwithdermatomyositis.JAmAcadDermatol.1987Mar.16(3Pt1):6279.[Medline].

  • 6/17/2015 HereditaryandAcquiredIchthyosisVulgaris:Background,Pathophysiology,Epidemiology

    http://emedicine.medscape.com/article/1112753overview#showall 4/4

    MedscapeReference2011WebMD,LLC

    25. RoselinoAM,SouzaCS,AndradeJM,etal.Dermatomyositisandacquiredichthyosisasparaneoplasticmanifestationsofovariantumor.IntJDermatol.1997Aug.36(8):6114.[Medline].

    26. EnnibiK,RabhiM,AlBouzidiA,etal.[AcquiredichthyosisrevealinganHodgkin'sdisease].RevMedInterne.2008May.29(5):41820.[Medline].

    27. ParsonsWBJr,FlinnJH.Reductionofserumcholesterollevelsandbetalipoproteincholesterollevelsbynicotinicacid.AMAArchInternMed.1959May.103(5):78390.[Medline].

    28. WilliamsML,FeingoldKR,GrubauerG,EliasPM.Ichthyosisinducedbycholesterolloweringdrugs.Implicationsforepidermalcholesterolhomeostasis.ArchDermatol.1987Nov.123(11):15358.[Medline].

    29. PoulsenJ.Hairloss,depigmentationofhair,ichthyosis,andblepharoconjunctivitisproducedbydixyrazine.ActaDermVenereol.1981.61(1):858.[Medline].

    30. CaverCV.Clofazimineinducedichthyosisanditstreatment.Cutis.1982Apr.29(4):3413.[Medline].

    31. OjiV,HautierJM,AhvaziB,etal.Bathingsuitichthyosisiscausedbytransglutaminase1deficiency:evidenceforatemperaturesensitivephenotype.HumMolGenet.2006Nov1.15(21):308397.[Medline].

    32. GruberR,SugarmanJL,CrumrineD,HupeM,MauroTM,MauldinEA,etal.Sebaceousgland,hairshaft,andepidermalbarrierabnormalitiesinkeratosispilariswithandwithoutfilaggrindeficiency.AmJPathol.2015Apr.185(4):101221.[Medline].[FullText].

    33. DarNR,RazaN,KhanA,AminMU.ParaneoplasticAddisonianpigmentationandacquiredichthyosisaspresentingfeaturesofmultiplemyeloma.JCollPhysiciansSurgPak .2011Jan.21(1):402.[Medline].

    34. BiverDalleC,GilH,MeauxRuaultN,etal.[Acquiredichthyosisandlivedoidpalmoplantarkeratoderma:Twounusualskinmanifestationsofsystemiclupuserythematosus.].RevMedInterne.2011Mar21.[Medline].

    35. CatherJC,CohenPR.Ichthyosiformsarcoidosis.JAmAcadDermatol.1999May.40(5Pt2):8625.[Medline].

    36. MatarassoSL,BruceS.Ichthyosiformsarcoidosis:reportofacase.Cutis.1991Jun.47(6):4058.[Medline].

    37. GrahovacM,BudimcicD.Unrecognizeddermatophyteinfectioninichthyosisvulgaris.ActaDermatovenerolCroat.2009.17(2):12730.[Medline].

    38. TadiniG,GiustiniS,MilaniM.Efficacyoftopical10%ureabasedlotioninpatientswithichthyosisvulgaris:atwocenter,randomized,controlled,singleblind,rightvs.leftstudyincomparisonwithstandardglycerolbasedemollientcream.CurrMedResOpin.2011Dec.27(12):227984.[Medline].

    39. HaasAA,ArndtKA.Selectedtherapeuticapplicationsoftopicaltretinoin.JAmAcadDermatol.1986Oct.15(4Pt2):8707.[Medline].

    40. HofmannB,StegeH,RuzickaT,LehmannP.Effectoftopicaltazaroteneinthetreatmentofcongenitalichthyoses.BrJDermatol.1999Oct.141(4):6426.[Medline].

    41. ShiVY,TranK,LioPA.AComparisonofPhysicochemicalPropertiesofaSelectionofModernMoisturizers:HydrophilicIndexandpH.JDrugsDermatol.2012May1.11(5):6336.[Medline].

    42. OsawaR,AkiyamaM,ShimizuH.Filaggringenedefectsandtheriskofdevelopingallergicdisorders.AllergolInt.2011Mar.60(1):19.[Medline].

    43. HoppeT,WingeMC,BradleyM,NordenskjldM,VahlquistA,TrmH,etal.Moisturizingtreatmentofpatientswithatopicdermatitisandichthyosisvulgarisimprovesdryskin,buthasamodesteffectongeneexpressionregardlessofFLGgenotype.JEurAcadDermatolVenereol.2013Dec12.[Medline].


Ichthyosis - mediskin.cn · Diagnosis and Therapy of tchthyoses 353 Fig. 1. Manifestations of ichthyosis vulgaris. (a) Infant with ichthyosis vul-garis and concomitant eczema, (b)

brochures - Foundation for Ichthyosis & Related Skin Types

Hereditary Palmoplantar Keratosis - InTech - Opencdn.intechopen.com/pdfs/42524/InTech-Hereditary_palmoplantar_keratosis.pdf · with mutilating keratoderma and ichthyosis but not deafness

โรคหนังเกล็ดปลา (ichthyosis) · โรคหนังเกล็ดปลา (ichthyosis) . โรคหนังเกล็ดปลาเป็นโรคเรื้อรังทางผิวหนัง

Neurological Manifestations of X-Linked Ichthyosis: Case ...downloads.hindawi.com/journals/crig/2017/9086408.pdf · CaseReport Neurological Manifestations of X-Linked Ichthyosis:

Harlequin ichthyosis and other autosomal recessive

Ichthyosis Vulgaris

Ichthyosis - First Skin Foundation...ichthyosis are diagnosed sometime within the first year of life, but in some cases, especially with Ichthyosis Vulgaris (the most common form of

Review Article SLC4A11 and the Pathophysiology of Congenital Hereditary Endothelial ...downloads.hindawi.com/journals/bmri/2015/475392.pdf · 2018-11-22 · SLC4A11 and the Pathophysiology

Ichthyosis - First Skin Foundation · of the gene for Ichthyosis Vulgaris, which is very common in the population, with the less common gene for X-Linked Ichthyosis, may result in

FIRST - Foundation for Ichthyosis & Related Skin Types, Inc. Ichthyosis Focus vol. 12, No. 2 Spring 1993 Ichthyosis Focus is published quarterly by the Foundation for Ichthyosis &

Preview Bellringer Key Ideas What Are Hereditary Diseases? Types of Hereditary Diseases Coping with Hereditary Diseases Future Medical Treatment for Hereditary

Keratitis-Ichthyosis-DeafnessSyndrome ...downloads.hindawi.com/journals/crihem/2011/848461.pdf · Keratitis-ichthyosis-deafness (KID) syndrome is a rare con-genital disorder characterized

Dysfunction of Oskyddad causes Harlequin-type ichthyosis

ICHTHYOSIS VULGARIS CURED WITH HOMOEOPATHY …api.ning.com/files/MXekbi0HELi6qDki1gK*zO5-mqv3xxRZ1HAqJTo4VK… · ICHTHYOSIS VULGARIS CURED WITH HOMOEOPATHY ... 6. GENERALS - FOOD

Congenital Recessive Ichthyosis

Klassifikation der Ichthyosen - medizin.uni-muenster.de · Ichthyosis vulgaris (IV) Recessive X-linked ichthyosis (RXLI) Non-syndromic presentation 2.) Autosomal recessive congenital

Ichthyosis vulgaris cured with Homoeopathy.docx

Faces of Ichthyosis 2014

Lamellar Ichthyosis

Ocular manifestation of Ichthyosis - World Health Organizationapplications.emro.who.int/imemrf/Saudi_J_Ophthalmol/Saudi_J...Ocular manifestation of Ichthyosis ... alligator baby and

4. Icththyosis Vulgaris, Lamellar Ichthyosis, X-linked Ichthyosis

Our Dermatology Online Case Report IIchthyoses: Case … · 2018. 3. 9. · and Harlequin ichthyosis; the acquired forms include ichthyosis vulgaris and X-linked ichthyosis. CASE

Genetics of Hereditary Spastic Paraplegia Dr. Arianna Tucci · Pathophysiology •Degeneration of the lateral corticospinal tracts in the spinal cord (> at a thoracic level) →Consistent

Congenital Ichthyosis: A Case Treated Successfully With

ICHTHYOSIS VULGARIS SLIDE.ppt

Harlequin-type ichthyosis :

Joel Schlessinger MD FAQ: Ichthyosis

Acquired ichthyosis

hiPSC-Derived Epidermal Keratinocytes from Ichthyosis

Harlequin Ichthyosis (New)

Ichthyosis, hepatosplenomegaly, cerebellar degeneration in

Revised nomenclature and classification of inherited ... · term for theharlequin ichthyosis, lamellar ichthyosis, and the congenitalichthyosiform erythroderma group. Limitations:

Epidemiology and Disease Pathophysiology: Hereditary Haemochromatosis Pierre Brissot, MD Professor of Medicine Liver Disease Department University Hospital

Specific Filaggrin Mutations Cause Ichthyosis Vulgaris and ... · Specific Filaggrin Mutations Cause Ichthyosis Vulgaris and Are Significantly Associated with Atopic Dermatitis in