Dermatologia
www.anaisdedermatologia.org.brCASE
REPORT
Annular
epidermolytic
ichthyosis:
a
case
report
and
literature
review
夽,夽夽
Emanuella
Stella
Mikilita
,
Irina
Paipilla
Hernandez
,
Ana
Letícia
Boff
,
Ana
Elisa
Kiszewski
∗DermatologyService,SantaCasadeMisericórdiadePortoAlegre,UniversidadeFederaldeCiênciasdaSaúdedePortoAlegre, PortoAlegre,RS,Brazil
Received3April2019;accepted25September2019 Availableonline5May2020
KEYWORDS
Hyperkeratosis, epidermolyitic; Ichthyosis; Ichthyosiform erythrodermaAbstract Annularepidermolyticichthyosisisararesubtypeofepidermolyticichthyosisthat is characterized by erythematous,polycyclic, and migratory scaly plaquesaccompanied by palmoplantar keratoderma. This report presents the case ofan 8-year-old girl who devel-opedmigratory,erythematous,scalyplaquesassociatedwithpalmoplantarkeratoderma.The initial hypothesiswaserythrokeratodermia variabilis etprogressiva;however, thefindingof epidermolytichyperkeratosisinhistopathologicalexaminationledtothediagnosisofannular epidermolyticichthyosis.
©2020SociedadeBrasileiradeDermatologia.PublishedbyElsevierEspa˜na,S.L.U.Thisisan openaccessarticleundertheCCBYlicense(http://creativecommons.org/licenses/by/4.0/).
Introduction
Annularepidermolyticichthyosis(AEI)isararephenotypic variantofepidermolyticichthyosis(EI),alsoknownas con-genitalbullousichthyosiform erythroderma,an autosomal
夽 How to cite this article: Mikilita ES, Hernandez IP, Boff AL,
KiszewskiAE.Annularepidermolyticichthyosis:acasereportand literaturereview.AnBrasDermatol.2020;95:484---9.
夽夽StudyconductedattheDermatologyService,HospitalSanta
CasadeMisericórdiadePortoAlegre,UniversidadeFederalde Ciên-ciasdaSaúdedePortoAlegre,PortoAlegre,RS,Brazil.
∗Correspondingauthor.
E-mail:kiszewski@gmail.com(A.E.Kiszewski).
dominantdisordercharacterizedbyextensiveerythroderma and formationof blisters inearly life.1---3 Unlike EI,in AEI
theclinicalsymptomsimproveinthefirstyearsoflife,and patients develop annular polycyclic, hyperkeratotic, and erythematousplaqueswithmigratoryfeatures,inthetrunk andextremitiesalongwithpalmoplantarkeratoderma.1,4
Case
report
An 8-year-old female patient was attended at the pedi-atric dermatology outpatient clinic of the Hospital Santa Casa of Porto Alegre with a report of diffuse dermatosis that began in thefirst monthsof life. Upon examination, thepatientpresentederythematous,scaly,hyperkeratotic https://doi.org/10.1016/j.abd.2019.09.030
0365-0596/©2020SociedadeBrasileiradeDermatologia.PublishedbyElsevierEspa˜na,S.L.U.ThisisanopenaccessarticleundertheCC BYlicense(http://creativecommons.org/licenses/by/4.0/).
Figure1 Hyperkeratosisinpalms.
plaques with prominent borders, affecting the mesogas-trium, cubital fossae, popliteal fossae, and inguinal and cervicalregions,aswellaspalmoplantarhyperkeratosisand yellowish hyperkeratotic plaques on the scalp and nasal introitus(Figs.1,2and3A).Noassociatedchangesinhair, nails,ormucosawereobserved.
Thepatientdeniedanysymptomsandtherewasno back-groundoffamilyhistoryofsimilarcasesandconsanguinity. Afterone month, shewasreassessed andthe appearance of the plaques changed, increasing the extension of the affectedareas;however,thepolycyclicaspectdisappeared (Fig.3B).
Skinbiopsyintheextensorportionoftheforearmshowed acanthosis,papillomatosis,andhyperkeratosiswithmarked epidermolysisinthegranularlayer(Fig.4).
Discussion
AEI wasfirstdescribed in 1992 by Sahn etal.5 and is the
resultofdominantmutationsinthekeratin1andkeratin10 genes.1---7Individualswiththisvariantmaypresentwith
bul-lous ichthyosis at birth and hyperkeratoticlichen plaques on the areas of flexion and extensor surfaces in the first yearsof life.1 Characteristically, theyalso develop
recur-Figure2 Erythematous,hyperkeratoticplaque,with promi-nentandgeographicalborderinthecervicalregion.Yellowish keratoticplaquesattheangleofthemouthandchin.
rent outbreaks of annular, polycyclic, erythematous, and scalyplaquesonthetrunkandproximalextremities.1,4The
presentauthors have reviewedtheliterature publishedin English,Portuguese, andSpanish sinceitsdescription and found 19cases in 10 publications thatare summarized in
table1.1---10
Inthehistopathology, thehyperkeratoticlesionsofthe AEI revealed hyperkeratosis, acanthosis, and a thickened granularlayer.Keratinocytesinthespinouslayersand supe-riorgranulosa ofthe epidermisdemonstrated cytoplasmic vacuolization and prominent keratohyaline granules.1,2,4,6
Basal keratinocytes appeared normal, but there was an increaseinthenumberofmitoses.Regardingfindingsfrom electronmicroscopy,therewereabnormalkeratinfilaments inthesuprabasalkeratinocytes,increaseofkerato-hyaline
Figure3 (A)Erythematous,keratoticplaqueswithprominentandgeographicalbordersonthearms,forearms,cervical,armpits, lateralregionofthetrunk,andumbilicalandsupra-umbilicalregions.(B)Thesamepatientamonthlater,presentingerythematous andhyperkeratoticplaquesalongtheentirearm,forearm,andanteriorchest,sparingtheumbilicalandsupra-umbilicalregions.
Sahnetal.,1992 1 30years/F At8monthsofage,she presentedsevereand intermittentscalylesions associatedwithblisters.In adolescence,shepresented hyperkeratoticplaquesinthe flexuresandjoints.Attheage of27,shehadintermittent annularhyperkeratotic, erythematous,polycyclic plaquesonthetrunkand proximalregionofthelimbs, associatedwithmild palmoplantarkeratoderma withfissures.
Topicaluseof60% propyleneglycoland6% salicylicacid.Partial responsetotreatment.
2 2years/M(son) At6monthsofage,he developedpapulesthat developedintoboliandcrusts. At2yearsofage,hehad keratoticplaquesonhisneck andarmpits,inadditionto multipleerythematouspapules onthetrunk,extremities,and ear.Noreportofpalmoplantar keratoderma.
Johetal.,1997 3(father) 33years/M Blistersdisseminatedfrom birth.Fromthe1styearoflife, intermittenthyperkeratotic anderythematousplaques associatedwithblistersand itchingupto16yearsofage. Attheageof31,heagain presentedintermittentblisters andhyperkeratoticplaquesin theflexures,ankles,andback ofthehandsassociatedwith annularmigratory,polycyclic, scaly,anderythematous plaquesinthetrunkand proximalregionofthelimbs. Palmoplantarkeratodermawas notreported.
Oralacitretin20mgperday topicallyassociatedwith ointmentcontaining propyleneglycoland5% urea.Goodresponseto treatment.
4(daughterof case3)
2nddayoflife/F Generalizedbullouslesionsand moderateerythemasincethe 2nddayafterbirth.At8weeks ofage,shehaderosionsinthe groinandinnerthighs
associatedwithmild desquamationonthedorsum ofthefeet.Noreportof palmoplantarkeratoderma.
Table1 (Continued)
Authors Casenumber Diagnosisage/sex Ageofonsetandclinical presentation
Treatmentperformed
Sugaetal.,1998 5 11years/M Nohistoryofblisters.Sincethe ageof7months,xeroticplates intheflexuresandextensor regions.Intermittentepisodes ofannular,erythematous, scaly,andserpiginousplaques onthetrunkandflexuresat11 yearsofage.Noreportof palmoplantarkeratoderma.
Unreported
Michaeletal.,1999 6---9(membersof samefamily)
NA Transientblistersfrombirth. Intermittenterythematous plaques,non-migratory polycyclichyperkeratotic plaquesonthetrunk associatedwithpalmoplantar keratoderma.
Topicaluseof corticosteroids,
calcipotriene,tazarotene. andsalicylicacid.Minimum responsetotreatment.
Sybertetal.,1999 10 5years/M Thefirsthoursoflifeshowed bullouslesionsanderosions. Sincethe1stmonth,hehad intermittentpalmoplantar thickeninganderythroderma. At3yearsofage,migratory andintermittent,
hyperkeratotic,erythematous plaquesonthechest,back, andflexures.
Unreported.
11(motherofcase 10)
18years/F Intermittentandmigratory erythematousplaques. Erythemaandskinerosions sincebirth.Intermittent palmoplantarhyperkeratosis. Intermittentepisodesof erythrodermaand palmoplantarkeratoderma. 12(auntofcase 10) NA/F Yonedaetal.,1999 13and14(mother
andson)
48years/F Blistersdisseminatedafter birthinbothcaseswith spontaneousimprovementin thefirstmonthsandworsening ataround4yearsofage,with annularhyperkeratoticand migratoryplaquesinthetrunk andextremities,maintaining thisconditionintermittently untiladulthood.Noreportof palmoplantarlesions. Etretinatewithout
improvement(did
notreportdose). 18years/M
Naiketal.,2003 15 21years/F Noreportsofcutaneouslesions atbirth.Sincethe1styearof life,therewereintermittent andmigratingpolycyclic erythematousplaquesonthe trunkandhyperkeratotic, verrucous,brownishplaqueson theknees,elbows,andankles. Intermittentpalmoplantar keratoderma.
Oralisotretinoin,topical glucocorticoids,and keratolytics.Topical tazarotenewithpartial response.
Jhaetal.,2015 16 26years/F Spreadingblisters,recurrent sincebirth.Intermittent hyperkeratoticplaquesonthe trunkfromthe1styearoflife to8yearsofage.Shehad hyperkeratoticplaquesinthe flexuresfromchildhoodto adulthood.Aftertheageof23, shehadannular,intermittent, hyperkeratotic,scaly
erythematousplaquesonthe trunkandthighs.Noreportof palmoplantarkeratoderma.
Acitretin0.5mg/kg/day. Goodresponsefourweeks afterstartingtreatment.
17 2nddayoflife/F Erythrodermaatbirth.Inthe firstmonthsoflife,
hyperkeratotic,polycyclic, scalyplaquesonthetrunkand limbs.Noreportof
palmoplantarkeratoderma.
Useofemollients.
Abdul-Wahabetal.,2016 18 25years/F Nohistoryoflesionsatbirth. Historyofichthyosiformlesions intheknees,elbows,and flexuresinchildhood.At25 yearsofage,erythematous, scaly,andmigratoryplaqueson thetrunkandlimbs.Noreport ofpalmoplantarlesions.
Lowdoseoralisotretinoin withgoodresponse.
Zakietal.,2018 19 5years/F Blistersdisseminatedafter birth.Migratoryand intermittenterythematous plaques,inadditionto hyperkeratoticplaquesonthe trunkandflexures.
Hyperkeratosisand
palmoplantarscalingsincethe firstmonthsoflife.
Unreported.
M,male;F,female.
granulesin granulelayercells, andperinuclear accumula-tionsofthickenedtonofilamentthatformedaninterrupted perinuclearring.4,5
Themaindifferentialdiagnosisofannularepidermolytic ichthyosisiswitherythrokeratodermiavariabiliset progres-siva(EKVP),1,2 an autosomal dominantcutaneous disorder
characterized by erythrokeratodermia and migratory ery-thematous plaques.1,2,7 EKVP is typically associated with
mutationsintheconnexins 30.3,31,and 43(GBJ4,GJB3, andGJA1),butrecentstudiessuggestgeneticheterogeneity. DistinctivefeaturesofEKVPincludeonsetduringchildhood, absenceof epidermal fragility, and histologywithout evi-denceofepidermolysis.1Themajorultrastructuralfeature
ofEKVPisareductioninthenumberofkeratinosomesinthe granularlayer.2
Treatment options in the small number of patients reported included topical medications such as retinoids, topicalcorticosteroids,propyleneglycol,calcipotriene,and
keratolyticagents,andlittleresponsewasobserved.5,8,9,10
Threearticlesreportgoodresponsewithsystemicretinoids; twoarticlesciteacitretintreatmentwithgoodresponse6,8
and another reports good response with low doses of isotretinoin.7
Financial
support
Nonedeclared.
Authors’
contributions
Emanuella Stella Mikilita: Approval of final version of the manuscript;conceptionandplanningofthestudy;drafting andeditingofthemanuscript.
IrinaPaipillaHernandez:Approvaloffinalversionofthe manuscript; conception and planning of the study;
draft-Figure4 Acanthosis,papillomatosis,andhyperkeratosiswith epidermolysis of the granular layer (Hematoxylin & eosin, ×400).
ingandeditingofthemanuscript;collection,analysis,and interpretationofdata;criticalreviewoftheliterature.
AnaLetíciaBoff:Draftingandeditingofthemanuscript; collection,analysis,andinterpretationofdata.
Ana Elisa Kiszewski: Approval of final version of the manuscript; conception and planning of the study; draft-ing and editing of the manuscript; collection, analysis, andinterpretationofdata;intellectualparticipationinthe propaedeutic and/or therapeutic conduct of the studied cases; critical review of the literature; critical review of themanuscript.
Conflicts
of
interest
Nonedeclared.
References
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