Downloaded from http://journals.tums.ac.ir/ on Friday, August 24, 2012 swallowing difficulty. swallowing majorThe GI problems areconstipation and glands. AEDpatients often complain of GI problems. abnormal teethandanhidrosisduetolackofeccrine congenital disorder characterized by sparsehair, CASE REPORT
Copyright© 2006, 2006, Copyright© Fax: (+9821)444086997,E- Tehran,Sciences,Medical Iran. of Tel: (+98 21) 44089588, Department ofAsthma, Allergy andImmunology, Tehran University Corresponding Author: hinder the healing process. constipation. Hypoplastic mucous glands might also frequent respiratory infections, feeding problems and September 2006; 5(3):143-145 Immunol Asthma JAllergy Iran but not knownin small bowel. are hypoplastic in the bronchi, esophagus and colon, (AED) revealedonly oneIBD. Crohn’s DiseaseandIdiopathicThromboc
Anhidrotic ectodermal dysplasia (AED)is a rare
Candidiasis andEctodermalDysplasia)thatin The survey of87caseswith(AED)revealed The characterized bysparsehair,abnormalteethan Thrombocytopenic Purpura(ITP)andCrohndiseas dysplasia (AED)andimmunodeficiency Anhyrotic with Immunodeficiency) has onlytworelevancies Key words: I In thiscasereportwewilldescribea rare association between anhyrotic ectodermal RANIAN INTRODUCTION 2 Department of Asthma, Allergy DepartmentofAsthma, andImmunology, Tehr FariborzZandieh, MD; Received: 23 October 2005; Received in revi in 2005;Received 23October Received:
J 1,2 OURNAL OF OURNAL mail: [email protected] The survey of87 caseswith The 1 DepartmentofGastroenterology, TehranUni Ectodermal DysplasiaandImmunodeficiency Ectodermal
Crohn´s disease;EctodermalDysplasia;ITP;Immunodeficiency
Farzaneh Motamed 2 Mucous glands of AED
A 3 LLERGY, LLERGY, These explain the
A with immunodeficiency STHMA AND STHMA 1 , Fariborz Zandieh
and APE-CED(Autoimmunepolyendocrinopathy, ABSTRACT ABSTRACT I MMUNOLOGY onlyoneIrritableBowelDisease(IBD). sed form: 4 March 2006; Accepted: 4 April 2006 4April form:4March2006;Accepted: sed ourcaseEDA-IDisstronglysuspected.
versity of Medical Sciences, Tehran, Iranversity ofMedicalSciences, d anhidrosisduetolackofeccrineglands. an UniversityofMedicalSciences, Tehran, Iran deficiency inhismother. closed- related parents. bloodyand diarrhea.purpura Heis the only child of recurrent respiratorytract of warm environments. in fever high of episodes sweatand to inability and dysentery andoccasional had begunfrom 4months of age with recurrent anhidrosisand chronic bloody diarrhea. His problem percentile), 5 were below indices growth of (all children's medical center. referred to the Department ofgasteroenterology ofthe failure tothrive(FTT)was and diarrhea chronic autoimmunity [inourcase:Idiopathic ytopenic PurpurainaPatientwith l ihsrsre. . All rights reserved. 2 historywas of oneabortionThere andG6PD also recurrenthospitaladmissionshad He because The patient hadfever,moderate dehydration, FTT The patientisa5-yearoldboywhobecause of e]. AEDisarare congenital disorder , andMostafaSedighi : (EDA-ID: EctodermalDysplasia CASE REPORT 2
vomiting, petechia,purpura infections, petechia and
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AED
Downloaded from http://journals.tums.ac.ir/ on Friday, August 24, 2012 ectodermal dysplasia (Figure 2). wascompatible with Palmarnormal. biopsy skin negative. CBCandImmunoelectrophoresis were disease. crypt destructivecolitis chronic cryptitis and plasma lamina cellsin propria, destruction, infiltrationof granulationtissue, mild crypt branching, goblet size ulcers(Figure1). erythema andfragile mucosa with discrete different sonography wasnormal. Colonoscopy revealed normal, except forhiatal hernia. Abdominal thickening ofthe mucosa. Upper endoscopy was Barium study revealed asuspicious fistula in ileum and ITP. Hehadanemiahis of up flare andraised ESR. stopped 5monthsbeen had Prednisone agewithout cachexia, fever,bloodydiarrh admission hewas5years old andpresented with improvement in his thrombocytopenia. In the last flushing. be donebecauseofhisanhi EEG revealedslight abnorma echocardiographic st marrow flowcytometery was normal, and ITP. marrow wascompatible with Bone aspiration biopsy ofinguinal adenopathy was normal. Bone biochemistryPTT and ABG.G6PDactivity waslow, anemia ofchronicdisease,CRP(+),normal PT and normal.were Hehadthrombocytopenia, hematuria, normal. but nofat droplets, noparasites andtrypsin activity was clinicStudies Para inguinal lymphadenopathy. rectal prolapse,analfissu and mucous membranes, a pectus excavatum ,dry skin, purpuric lesions on skin anodontia,frontalanhidrosis,and bossing, low set ears, percentile. 5 all below crying.His growth anddevelopmental milestones were gingival infections. Hewould not shed tears when Physical Examination 144 / IRANIAN JOURNAL OF ALLERGY, ASTHMA AND IMMUNOLOGY Vol. 5, No. 3, September 2006 September 3, No. 5, Vol. IMMUNOLOGY AND ASTHMA ALLERGY, OF JOURNAL / IRANIAN IgG antigliadin andendomysial antibodies were Colonichistology revealed puscollection, treatedwithwas prednisone andIVIGwithHe Stool culture wasnegative. Metabolic evaluations many revealed examination RBCs Stool WBCs, and He wasdehydratedwithfeverandhadcachexia, He hadseveral rudimentary primary teeth with udy didnotshowanyabnormality. neutrophils, lymphocytes and nd noorganomegaly. Hehad re, a large analtag,and a re, compatible withCrohn’s lities. Sweattestcouldnot drosis, hyperthermia and ea, clubbingand anal tag. F. Motamed,etal. different size ulcers in colonoscopy. Figure 1.Erythema and fragilemucosa with discrete CD Further immunological evaluations: skin biopsy. Figure 2.Diagnosisofectoderm or morethe followingsor of findings: partial orcomplete heterogeneous groupofdisorders characterized by two Crohn’s disease, ITPandimmunodeficiency. EDis a NBT= 100% (Normal) times) four (Itwaschecked titers=0 Isohemagglutinin IgA =140and100(Normal) IgM =48and46(Normal) IgG =725and728(Normal) CD19= 17%(Normal) CD4/CD8= 6.5(Normal: 2-2.5) CD8=5% (Normal: 20–25%) 3 This case portrays a rareassociation betweenED, portrays case This 0 Nra) CD = 70%(Normal) DISCUSSION 4 =3%(oml =36%(Normal) al dysplasia with palmar with dysplasia al
Downloaded from http://journals.tums.ac.ir/ on Friday, August 24, 2012 and weight loss. are abdominaldeficiency pa inflammatory process.Thecl Linked inheritance. families several in reported with X been (EDA-ID) has and IBD. them multiple infections to predispose can patients ED rare. dysphonia,dysphagia anddiarrhea, but IBD is very rhinitis, purulent infection, respiratory to susceptibility and GItract respiratory isohemagglutinin and inability to to form inability specific and isohemagglutinin normallevels, delayed orabsent production of serum IgA,usually reducedserum IgG but sometimes often document normal orincreased IgM and variable cataracts. have stenosis oflacrimal puncta, corneal opacity and and prominent low set earscannot bediagnosed. Some skin periorbital hyperpigmented columella, wrinkled malar hypoplasia,flattene infancy thetypicalfacieses episodes ofhigh feverin warm environments. In sebaceous glands.Affectedchildren may experience hypotrichosis, defects of and anomalous dentition sweatglands, of absence Vol. 5, No. 3, September 2006 Vol. 5,No.3,September 2006 interactions in an unsanitary world. unsanitary an in interactions beneficialin mediatingeffect host– microbial persistedexpanded in humanhave and owing to a CD, to may susceptibility increasing variants Genetic immune interpretation ofthe microbial environment. mucosal surface. CDmay be (tolerance) tothe millions responsiveness andnoresponsivenessbetween balance immune the system control must tightly or adolescenceinupto25%ofcases.The mucosal the GItractof disorder that manifests during childhood of life dueto hyperpyrexia orrespiratory infection. The associationof E.DandimmunodeficiencyThe Crohn’s disease (CD) is a chronic inflammatory 5 30% of affected boysaffected die of during the30% first 2years 4 Poor developmentPoor of mucous glands in the 6 Probably defect in mucosal barrier in 7 Immunologic investigations most of antigenspassingalongthe Crohn’s Disease and Idiopathic Thrombocytopenic Purpura andIdiopathicThrombocytopenic Disease Crohn’s nailsandeccrine d nasalbridge,recessed may result in increased may increased in result suchas frontal bossing, in, diarrhea,poorappetite assic presentations of this this of presentations assic adisorderofmucosal 6 CD is apanenteric IRANIAN JOURNAL OFALLE IRANIANJOURNAL our suspicion to this syndrome. potentiate willsubstantially autoimmune process as an him.of ITPandCrohn’s disease inPresence ourcase years, animmunodeficiency hasbeensuspected for least 1/8bytheageof2to4 at normallyto reaches titerthat isohemagglutinin of absence and FTT can confirm the diagnosis. patient this in gene this of analysis ID.Mutation EDA– gene havebeenidentified(NEMO) in patient with in the mutations IKK– gamma but remained elusive recessive anhidrotic EDwith immunodeficiency has ITP, Crohn’s Disease. Themolecular basis ofX Linked as: such some ID)with autoimmunity– presentation suffer fromalso animmunodeficiency syndrome (EDA features. antibodies topolysacchar 7. DoffingerR,Smahi A, Bessia disease.Lancet2002;359(9300):62-9 6. ShanahanF.Crohn's R,Taro O, Ayako Shouichi 5. 4. Freise–MaiaN,Pinheiro 3. ReedWB,LopezDA,LandingB.Clinical spectrum of 2. NationalFoundationsforED.GI 1. ClarkeA,PhillipsDI,BrownR,HarperPS. Clinical NF-kappaB signaling.Na withimmunodeficien dysplasia A,ETAL.X-linkedanhidroticectodermal Durandy anhidrotic ED.AJGDes2000:3651–2. Ser 1988;24(2):3-14 recollections andaclassification. BirthDefects Orig Artic 102(2):134-43. anhidrotic ectodermaldyspla PediatrDermatol1995;12:288-9. syndrome). ED(christ–siemen– touraine with hypohidrotic Arch DisChild1987;62(10):989-96 ectodermal aspects ofX-linkedhypohidrotic dysplasia. In ourcasewith recurrent diarrhea and pneumonia, Immunologic findings suggest that these patients REFERENCES RGY, ASTHMA AND IMMUNOLOGY/ RGY, ASTHMA t Genet2001;27(3):277-85. M: Ectodermal dysplasias--some M: Ectodermaldysplasias--some 7
ide antigensarecommon N. IBD–likecomplicationin C, Geissmann F, Geissmann C, sia. ArchDermatol1970; cy is caused by impaired iscaused by cy complaintsinindividuals FeinbergJ,
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