Oral Medicine

The ectrodactyly-ectodermal dysplasia-clefting syndrome:Â literature review and case reportN, M, King« / M, C, K. Tong** / J, Y K, Ling*«*"

Ectrodactyly. atypical anhidrotic uctodemml dysplasia. and clefi lip and palate are the pritici-pal manifestations of ectrodactyly-ectodermal dysplasia-clefting syndrome ¡ntraorally, thecomtnonmutiifestations ofthe syndrome are hypodontia, enamel hypoplasia, and general-ised nucrodontia. In addition, the patient may suffer from xerostomia and have a deeply fis-sured tongue. The oral nuicosa appears, in some patients, to have an increased susceptibilityto candidiasis. This case report describes a patient who exhibits tnany ofthe manifestations ofthe syndrome and explaitis ways in which many ofthe anomalies ofthe dentition can beesthetically and functionally cortx'cted. (Quintessence Int 1994:25:731-736,)

Introduction

Ectrodactyly, atypical anhidrotic ectodermal dysplasia,and cleft hp and palate are the principal manifestationsof ectrodactyly-ectodermal dysplasia-clefting (EEC)syndrome. The name of the syndrome was first pro-posed by Rüdiger and coworkers' in 1970; they consid-ered it to be an extremely rare syndrome hecause theyestimated its prevalence to be approximately 1.5 per100 million. In the same year, Wiegmann and Walker'added the feature of nasolacrimal obstruction to thecharacteristics of the syndrome. However, even before1970, there had been at least two publications about thesyndrome;""'' the first reference to EEC syndrome inthe literature can probably be attributed to Eckoldtand Martens^ in 1S04.

Ectrodactyly refers to the congenital absence of oneor more digits. Thus, affected individuals may be recog-nized by a characteristic lobster-claw deformity of their

Reader. Departmenl of Children's DentistTy and Orthodon-tics, University of Hong Kong, Faculty of Dentistry, PrincePhilip Denial Hospital, 34 Hospital Road, Hong Kong,Jnnior Hospital Dental Officer, Department of Children'sDentistry and Orlhodontics, University of Hong Kong,Part-Time Lecturer, Deparlment of Children's Dentistry andOrthodontics, University of Hong Kong.

hmb extremities that causes severe functional disor-ders for the affected individual,

Ectodermal dysplasia is characterized by various de-fects of structures of ectodermal origin. The reportedexpressions of the ectodermal dysplasia have beenmultiple; for example, both hidrotic and anhidroticforms of ectodermal dysplasia have been distin-guished,'' Affected subjects have dry and coarse skin;light colored and scanty hair, especially the eyebrows:dystrophic nails; and decreased sweating because ofthe absence of sweat glands, and hence heat intoler-ance,""'"' However, two of the four patients describedby Brill and coworkers.** three of the six patients de-scribed by Pashayan and coworkers,'" and both of thepatients described by Penchaszardeh and coworkers"had normal sweating function.

Because most of the ocular structures are ectodermalin origin, it can he predicted that ocular manifestationsmay occur with the syndrome, Dacrocystitis, secondaryto congenital lacrimal duel anomalies, has been report-ed,'' '''•* Other patients described in the hterature havehad various combinations of blepharitis,'•''''"'"''^'^ ke-ratoconjunctivitis,"^'^''' and atresia of the lacrimalpuncta>^''^ In 19S9, McNab and coworkers"* empha-sized the ocular findings of EEC syndrome and report-ed a previously unrecognized complication; spontane-ous corneal perforation.

Facially, the characteristic features of individualswith EEC syndrome are hypoplasia of the midface.

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probably resulting trom hypoplasia of the maxilla:prominent supraorbital ridges; and a prominent nasal

Although mental retardation is associated with EECsyndrome.'•'^" normal menial status has also been re-corded,^"''' Another feature of the syndrome Ihat hasbeen reported in some patients is conductive deaf-ness."'"'•'̂ •"'̂ •'"

The common oral manifestations of the syndromeare hypodontia,^'-"' -" enamel hypoplasia'"'"•'-•'^•-" andgeneralized microdontia,^""'" The syndrome is fre-quently associated with bilateral clefts of the lip andpalate,'•'-'•'"•'-'•"^•'•' In addition, the patients may sufferfrom xerostomia,'"' which is probably why many ofthem have been reported to suffer from multiple cari-ous iesions,'-'""'-^'-'*''" Usually the tongue is deeply fis-sured,''" and the oral mucosa appears to have an in-creased susceptibility to candidiasis'''" in some pa-tients.

Recently, an additional feature of EEC syndrome,extensive condone nevus, has been reported.'^ Thecondition is a developmental abnormality ofthe pilose-baceousunit.''

Urinogenital problems, such as hydronephrosis, mi-cropenis, and dysplasia of the kidneys, have afflictedmany sufferers of EEC syndrome,"''^"''-" However, itwas not until 1988 that these symptoms were consid-ered to be component manifestations of the syn-drome."'

In most cases, the syndrome appears to have an auto-somal-dominant mode of inheritance,''^"*'" with an in-complete penetrance of about 78%,'^ However, somecases appear to have had an etiologic heterogeneityconsistent with an autosomal-recessive mode of inheri-tance,'•"'"'•' Nevertheless, reports of patients with thecomplete form, ie. those wilh all three characteristicfeatures of ectrodactyly, ectodermal dysplasia, andcleft lip and palate, have been sporadic,' '""' ' Some pa-tients have demonstrated an incomplete spectrum ofmanifestations, indicating a variable expressivity ofthesyndrome.**"'-"'" " Consequently, it has been conclud-ed by some authorities that the characteristic ectrodac-tyly is not an obligatory component of the syndrome,""Others have considered that nail dystrophy, syndactyly,and clinodactyly can be common alternative fea-tures,"''"'"^" Other patients with incomplete forms ofclassic EEC syndrome have lacked ectodermal dyspla-sia''"^'" and a cleft ofthe lip or palate,^

This case report describes some of the features ofEEC syndrome and explains how the intraoral featurescan be esthetically and functionally corrected.

Case reporl

A Chinese boy. aged 14 years, who complained aboutthe malalignment of his anterior teeth, was referred tothe .loint Clinic for Cleft Lip and Palate Patients at thePrince Philip Dental Hospital, Hong Kong, He had aprognathic profile and scarring from the surgical repairof a bilateral complete cleft lip and palate (Figs la and1 b). His past medical history revealed that his cleft lipand palate had been repaired at 3 months and 18months, respectively He had undergone previous sur-gical correction of syiidactyly of both hands. The indexand middle fingers of his left hand were completelymi.s.sing, and the terminal phalanges of the middle fin-ger of his right hand were missing. There was evidenceof syndactyly between the ring and terminal fingers ofhis left hand (Fig 2a), and the index finger and diminu-tive middle finger of his right hand (Fig 2b), The secondand third toes ofboth feet were missing (Fig 3),

Tliere were no problems with his mental and psycho-logical faculties, and his scholastic achievements werecommensurate with his chronologic age. Although hishair was scanty, the patient did not complain of an in-ability to sweat or of any ocular abnormalies. and hisnails had a normal appearance,

Tlie boy had a Class III malocclusion (Fig lb), com-plicated by generalized spacing, retention of the pri-mary mandibular right second molar, a peg-shapedmaxillary left lateral incisor, and rotated maxillary leftand right central incisors with notched incisai edges.Notching also affeeted the mandibular left central andlateral incisors and the mandibular right lateral incisor(Fig4). He was missing nine permanent teeth: all of thethird molars: all of the second premolars, except themandibular left second premolar; the mandibular rightcentral incisor: and the maxillary left lateral incisor.The panoramic radiograph confirmed the clinical dia-gnosis of hypodontia (Fig 5),

The molar relationship on the left side was a full-unitClass TI, while on the right it was a half-unit Class II, Acrossbite on the left side involved the maxillary left firstpremolar aud mandibular left second premolar. Boththe maxillary and mandibular arches were U-shaped,

No other family members were known to be affectedby any similar anomalies.

In response to the request made by the patient for animprovement in the appearance of his teeth, multi-banded orthodontic treatment using the Begg tech-nique was carried out for 24 months in the maxilla and9 months in the mandible, Uprighting of the maxillaryleft central incisor revealed caries on the palatal sur-

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Figs la and lb Thepatient is shown after repair of the cleft lip and paiate.

Figs 2a and 2b The resuit of surgery to correct ectrodactyiy of the first and second fingers of the ieft hand and syndactyiy ofthefirstandsecondfingersof the right hand is shown.

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Fig 3 Deformities of tbe feet remain even after surgery tocorrect tbe ectrodactyly and syndactyly.

Fig 4 The antenor teeth exhibit microdontia of tbe maxil-lary left laterai incisor; notching and rotation of the centraiincisors: and notching of the maxiiiary central and the threemandibular incisors at the incisai edge, Tbere are brownopacities on tbe ieft centrai incisor. The maxillary inciscrsexhibit rotation.

Fig 5 The panoramic radiograph reveals hypodontia, ttieabnormal coronal morphology of the mandibular incisors.and the retained primary mandibular right second molar.

Fig 6 The bonded prosthesis has two pontics to repiacethe rigbt iateral incisor, A ceramometai crown has beenplaced on the microdont left laterai incisor.

face. Circumferential supracrestal fibrotomy was per-formed on the rotated maxillary teeth, after which a re-movable retainer was worn by the patient for 10months. Subsequently, a resin-bonded fixed partialdenture was fitted to replace the missing maxillaryright lateral incisor (Fig 6), There was excess spacebetween the right central incisor and the eanine: hence,the prosthesis had a two-unit pontic. The space distal tothe maxillary left lateral incisor was obhterated by theplacement of an enlarged ceramometal crown on thelateral incisor. Finally, composite resin restorationswere placed on the maxillary and mandibular incisorteeth lo improve the coronal morphology.

Discussion

The mode of inheritance for most cases of EEC syn-drome retnains obscure, as was the situation in this pa-tient, Ectrodactyly of the extremities leads to function-al disabilities because the affected individuals experi-enee difficulty in holding objects. The bizarre appear-ance of their hands and feet can impair social activitiesand the psyehologicai balance of the affected individti-als. However, these problems were not evident in thepatient in this report.

Functional and esthetic problems frequently arisefrom clefts of the lip or palate. During infancy these pa-

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tient., hkc those with isolated cleft defects, experiencedtfficulttes wtth feeding. Later in life, they experiencesome d,fftcult.cs wilh speech development and hearingloss and may have psychological problems because ofthe assoctated poor esthetics. The treatment of any pa-ttent wtth a cleft lip and/or palate requires a multidisci-phnary approach, with the long-term involvement ofsurgeons, an orthodontist, a pedodontist, a prostho-dontist, a speech therapist, and even a social worker.

Many patients with deft palate or lip develop a ClassIIImaloccluston on a skeletal Class 111 denial base re-lationship, lilis may, at least in part, be due to the surgi-cal scarring of the palate, which hinders the growth ofthe maxilla. Ttiis may or may not have been the reasonwhy this patient had this type of mal occlusion. The gen-eralized spacing of the teeth resulted from the conçeni-lal absence of nine permanent teeth. The only otherproblems of ectodcrmal origin that affected the patientwere sparse hair and enamel hypoplasia.

With the introduction of the technique of acid-etch-ing of enamel,-- major changes have occurred in all as-pects of dentistry, and especially in terms of esthetictreatment for patients who have esthetically unaccep-table dental anomalies such as those that occur in EECsyndrome. "Ihe composite resin restorations, the resin-bonded prosthesis, and the bonding of the orthodonticbrackets all used the technique of acid etching of ena-mel. These techniques helped to minimize the irrever-sihle loss oftooth structure that would have occurred ifconventional complete-coverage restorations hadbeen used. However, it was necessary to plaee a com-plete-coverage prosthesis to correct the peg-shapedmaxillary lateral incisor, because the tooth was poorlydeveloped and it was believed that the ocelusal loadingduring mastication could be resisted better by a crownthan by a composite resin restoration.

The orthodontic treatment was completed beforeany restorative treatment. Tlie rationale was that onceall of the malalignments, rotations, and inclinations ofthe teeth had been corrected, more accurate estimatesof the residual space could be made. Furthermore, ifcomposite resin restorations had been placed to modi-fy the notched incisors prior to the orthodontic therapy,the removal of the brackets at the end of the orthodon-tic treatment wotild have damaged the composite resinrestorations. Nevertheless, this approach does makethe finishing of the interproximal regions of a restora-tion more difficult than if it is done prior to tooth move-ment.

Another treatment option for this patient after cor-rection of the malaligned teeth would have been to

construct a removable partial denture to replace themissing teeth. This would have been a more conserva-tive treatment approach; however, it was consideredless desirable because it would have committed thisyoung patient to the wearing of a removable prosthesisfor the rest of his life.

When a treatment plan is formulated for a child pa-tient, the treatment time is a factor that must be consid-ered. Individuals with EEC syndrome need to havemultiple operations, dental treatment, and speech ther-apy. When these appointments oecur dnring schooltime, it can adversely affect the academic progress ofpatients. EoTtunately, the patient in this case report hada normal mental status, thus minimizing the adverse ef-feets of frequent medieal and dental appointments onhis scholastic achievements.

Recently, the successful diagnosis of EEC syndromein the fetus by ultrasonic evaluation has led to the rec-ommendation"-"' that this procedure be performedroutinely, especially for those women who already havea child with EEC syndrome.

References

1. RudigerRA,Haase W, Passarge E.Association of ectrodactyly,eciodermal dysplasia, and cleft lip-palate: The EEC syndrome.Am J Dis Child 1970:120:160-163.

2, Wiegmann OA, Walker FA. The syndrome of lobster claw de-formity and nasolacrimal obstruction. J Pediatr Ophthalmol

3. Cockayne EA. Cleft palate, hare lip, dacryocystitis and clefthand and feot. Biomctrika 1%3:28:60-63.

4. Walker JC, Clodius L. The syndromes al" cleft lip, ctett patateand lobster-claw deformities of hands and feet. Plast ReconstrSurg 1963;32:627-637.

5. Eckoldt JG, Martens FH. Über eine sehr komplicierte Hasen-scharte. Leipzig: Steinacker, [SM.

6. Weech AA, Hereditary eclodermal dysplasia. Am .1 Dis Child1929:37:766-790.

7. Fried K. Ectrodactyly-ectoclermal dysplasia-elefting (EEC]syndrome. Clin Genet 1972;3:296-^0Ü,

8. Brill CB, Hsu LYF, Hirschhorn K. The syndrome ol ectrodacty-ly, ectodermal, dysplasia and clelt hp and palate: Report of afamily demonstrating a dominant inheritance pattern. CtinGene't 1972:3:295-302.

9. Pries C, Mittelman D. Miller M, Solomon LM. Pashayan HM,Pru7.ansky S. Tlie EEC syndrome. Am J Dis Child 1974;127:840-844.

i 0. Pashayan HM, Pruzansky S, Solomon L. The EEC syndrome:Report of six patients. Birth Defects: Original Articles Series1974;X: 105-127.

11. Penchaszardeh VB, de Negrotti TC. Eetrodactyly-ectodermaldysplasia-clefting (EEC) syndrome: Dominant inheritance andvariable expression. J Med Genet iy76;13:281-284.

12. Parkash H, Gerwal MS, Sidhu SS. Ectrodactyly, ectodermaldysplasia, cleft lip and palate (EEC) — A rare syndrome. Ind JPediatr 1983:50:337-340,

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13, OgurG, Yüksel M, Association o[syndactylyy,et:lad<;rmal dys-plasia, and clefl lip and palate: Report ollwo sibs from Turkey.J Med GencI

14, Christodoulou J, McDongall PN, Sheffield LJ, Choanal atresiaas a feature of ectrodactyly-ectodermDl dysplasia-cl eltin g(EEC) syndrome, J Ullrasound Med 1989; 8:337-33 9,

15, Leibowitz MR, Jenkins T, A newly recognized feature ot ectro-dactyly, ectodermal dysplasia, defting (EEC) syndrome: Con-done naevus. Dermatológica 1984; 169:80-85,

16, KüsterW,Maiewski F, Meinecke P, EEC syndrome without ec-trodaclyly? Repon of 8 cases. Clin Genet I985;2S:I3O-135,

n , Anneren G, Anderson T, Lindgren PG, Kjarlansson S, Eclro-dactyly-ectodermal dysplasia-clefting syndrome (EEC): Theclinical variation and prenatal diagnosis, Clinic Genet

18, McNab AA, Potis MJ, Welham RAN, The EEC syndrome andits ocular manitesialions, Br J Ophlhalmol 1989;73:261-264,

ly, Majewski F, Küsler W, EEC syndrome sine sine? Report of afamily with oligosyniplomalic EEC syndrome. Clin Genet19S8;33:69-72.

20, Chiang TP, Robinson GC, Ectrodaclyly, ectodermal dysplasia,and clefl lip/palate syndrome: The importance of denial anom-alies, J Dent Child 1974;41:38-42,

21, Rollnick BR, Hoo JJ. Genitominary anomalies are a compo-nent manifestation in the eclodermal dysplasia, eclrodaclyly,cleft lip/palate (EEC) syndrome. Am J Med Genet 1988;29:131-136,

22, BnonocoreMG, A simple melhod of increasing the adhesion ofacrylic filling materials to enamel surfaces, J Denl Res 1955;34:849-853,

23, Köhler R, Sonsa P, Jorge CS, Prenatal diagnosis of the ectrodac-lyly, ectodermal dysplasia, cleft palate (EEC) syndrome, JUltrasound Med 1989:8:337-339, D

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