Aquagenic urticaria in twins.

0.91 MB·English

by  Kai, Anneke C

KaiandFlohrWorldAllergyOrganizationJournal2013,6:2 journal
http://www.waojournal.org/content/6/1/2
CASE REPORT Open Access
Aquagenic urticaria in twins
Anneke C Kai1* and Carsten Flohr1,2
Abstract
We describe the case of18 year old twin brothers who presented to our unit witha 3 year history of aquagenic
urticaria. This rare form of urticaria usually presents within anhour of contact withwater. The aetiologyis unknown.
Most cases are sporadic but thereare a small number offamilial cases inthe medical literature.A specific genetic
mutation has not yet been found. To our knowledge, this is the firstreport ofaquagenic urticariain monozygotic
twins, further supporting a genetic component to this disease.
Keywords: Urticaria, Aquagenic
Background the brothers had been adopted. On examination, the
We describe the case of 18 year old twin brothers who skin of both brothers was normal but we were able to
presented with aquagenic urticaria. This is a rare form induce the classical wheals following exposure to water
of urticaria which usually presents within an hour of inashowerinourclinic(Figures1and2).Thesymptoms
contact with water. The aetiology is not understood. were controlled by taking prophylactic cetirizine 10mg
Most cases are sporadic but there are a small number of onceperday.
familial cases in the medical literature although no spe-
cific genetic mutation has been found yet.To our know-
ledge, this is the first report of aquagenic urticaria in Discussion
monozygotic twins, further supporting a genetic compo- Aquagenic urticaria is a rare form of urticaria which
nent tothis disease. affects women more commonly than men. Symptoms
often start in puberty. Wheals usually develop within 30
to 60 minutes of contact with water, irrespective of the
Case presentation
temperature. Differential diagnoses include aquagenic
18 year old identical twin brothers were referred to our
pruritus, where exposure to water induces pruritus but
tertiary referral centre urticaria clinic with a three year
no visible skin lesions, and cholinergic urticaria, where
history of aquagenic urticaria. They were both keen
wheals develop inresponse to heat,exertion,sweatingor
triathletes and were therefore frequently exposed to
emotional stress. The aetiology is not understood. It has
water. Swimming or showering would induce a pro-
been suggested that water interacting with sebum or se-
drome of skin pruritus followed by the development of
baceous glands can produce a toxin causing degranula-
wheals over the trunk approximately 15 minutes after
tion of mast cells, leading to histamine release and
the initial contact with water. The wheals were induced
wheal formation. An alternative explanation has been
by both hot and cold water. They would resolve spon-
that water-soluble antigens in the epidermis diffuse into
taneouslyafter about one hour,leavingnoresidual mark.
the dermis and cause a histamine mediated reaction.
Neither brother had ever experienced any associated
Oral antihistamines are used as first line treatment, up
angioedema.Exercisesuchasrunningwouldonlyinduce
to four times the standard single daily dose. Successful
itching. There was no history of atopy and both brothers
treatmentwith UVB andPUVAhasalso been reported.
were in good general heath and were not taking any
Although almost all cases of aquagenic urticaria are
regular medications. The family history was unknown as
sporadic, therearea smallnumberoffamilialcasesinthe
*Correspondence:[email protected] medical literature [1-7]. Some of these cases have been
1CutaneousAllergyDepartment,StJohn’sInstituteofDermatology,Guy’s& reported in association with other conditions, a few of
StThomas’NHSFoundationTrust,WestminsterBridgeRoad,LondonSE1
whicharegeneticallylinked.Forexample,Pitarchetal.[1]
7EH,UK
Fulllistofauthorinformationisavailableattheendofthearticle published a case of three affected female siblings all with
©2013KaiandFlohr;licenseeBioMedCentralLtd.ThisisanOpenAccessarticledistributedunderthetermsoftheCreative
CommonsAttributionLicense(http://creativecommons.org/licenses/by/2.0),whichpermitsunrestricteduse,distribution,and
reproductioninanymedium,providedtheoriginalworkisproperlycited.
KaiandFlohrWorldAllergyOrganizationJournal2013,6:2 Page2of2
http://www.waojournal.org/content/6/1/2
supporting the notion that there is a genetic component
to this type of urticaria, as suggested by others. It is
hoped that new generation sequencing/exome sequen-
cing will be able to shed further light on the genetic
traitsinvolved.
Consent
Writteninformedconsentwasobtainedfromthepatients
forpublicationofthisCaseReportandanyaccompanying
images. A copy of the written consent is available for
reviewbytheEditor-inChiefofthisjournal.
Competinginterests
Theauthorsdeclarethattheyhavenocompetinginterests.
Figure1Whealsontorsoafterwaterexposure.
Authors’contributions
CFprovidedthecasehistory.AKcarriedouttheliteraturereviewandwrote
thediscussion.Allauthorsreadandapprovedthefinalmanuscript.
co-existent. Bernard-Soulier Syndrome, a rare autosomal
recessive disorder causing a prolonged bleeding time for Authordetails
which more than 30 mutations of the GPIbα, GPIbβ and 1CutaneousAllergyDepartment,StJohn’sInstituteofDermatology,Guy’s&
StThomas’NHSFoundationTrust,WestminsterBridgeRoad,LondonSE1
GPIX genes have been described [8]. These genes map to
7EH,UK.2King’sCollegeLondon,Strand,LondonWC2R2LS,UK.
chromosomes17p12,22q11.2and3q21respectively.They
postulatedthatalthoughtheassociationcouldbeacoinci- Received:9September2012Accepted:16January2013
Published:31January2013
dence,itmightconstituteanassociationofgeneticloci.
Treudler er al [2] reported an association of familial References
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over three generations. They described a male patient
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To thebest ofourknowledge, this isthefirstcasereport 8. KunishimaS,KamiyaT,SaitoH:GeneticabnormalitiesofBernard-Soulier
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doi:10.1186/1939-4551-6-2
Citethisarticleas:KaiandFlohr:Aquagenicurticariaintwins.World
AllergyOrganizationJournal20136:2.
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Figure2Close-upviewofwhealontorsoafterwaterexposure.
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