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Journal of Indian Society of Pedodontics and Preventive Dentistry Official publication of Indian Society of Pedodontics and Preventive Dentistry
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CASE REPORT
Year : 2014  |  Volume : 32  |  Issue : 4  |  Page : 346-349
 

Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome


Department of Pedodontics and Preventive Dentistry, Guru Nanak Institute of Dental Science and Research, Nilgunj Road, Panihati, Sodepur, Kolkata, West Bengal, India

Date of Web Publication17-Sep-2014

Correspondence Address:
Amitava Bora
108/6, Nagendra Nath Road, Kolkata- 700028, West Bengal
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0970-4388.140972

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   Abstract 

Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is an autosomal dominant disorder characterized by the triad of ectrodactyly-ectodermal dysplasia, and facial clefting along with some associated features. Presence of all the three major features in a single individual is extremely rare. We report a case of 4 year 11 months old child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.


Keywords: Cleft lip and palate, ectodermal dysplasia, ectrodactyly, ectrodactyly-ectodermal dysplasia-cleft syndrome, multidisciplinary management, role of dentist, TP63 gene


How to cite this article:
Dhar RS, Bora A. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome . J Indian Soc Pedod Prev Dent 2014;32:346-9

How to cite this URL:
Dhar RS, Bora A. Ectrodactyly-ectodermal dysplasia-cleft lip and palate syndrome . J Indian Soc Pedod Prev Dent [serial online] 2014 [cited 2019 May 25];32:346-9. Available from: http://www.jisppd.com/text.asp?2014/32/4/346/140972



   Introduction Top


Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome is a rare genetic disorder with multiple congenital anomalies characterized by triad of ectrodactyly-ectodermal dysplasia, and facial clefting. [1] Though all these features rarely coexist in a single individual. [2] Other features may include hearing loss, the lacrimal duct defect, genitourinary defect, delayed developmental milestones, malignant lymphoma and occasional mental retardation.

The EEC syndrome was first described in 1936 by Cockyne. [3] The term was first coined by Rüdiger et al.[4] in 1970. The inheritance is autosomal dominant, but sporadic and autosomal recessive traits have also been reported. Genetic studies have revealed that mutation in the TP63 or TP73L genes occur in these cases. [5] Celli et al.[1] reported that a mutation in p63 gene a homolog of p53 gene-is found to be associated with EEC syndrome. The exact prevalence is not known. More than 300 cases have been described in the literature. [6] There are very less number of published cases in India. Joseph and Nath [7] presented a case of 23-year-old female patient in 2012 suffering from such condition. In her family, her father and younger brother too had such disorders. They had nasal twang in her voice, coarse and sparse hair, sparse eyebrow, oligodontia, soft palatal cleft, hypertelorism, syndactyly, ectrodactyly on both limbs, deep cleft on both limbs, and dysplastic nail of the left toe. Marwaha and Nanda [8] in 2012 reported a case of 10-year-old male child with oligodontia, cleft lip, syndactyly of middle and ring finger in the right hand, ectrodactyly of index finger of the right hand, third and fourth toes of right feet, very fine and sparse hair, warm and dry skin with very little or absence of sweating, impaired auditory functioning and speech defect. In 1961, Rosselli and Gulienetti [9] reported four patients with hypohidrosis, hypotrichosis, microdontia, dystrophic nails, cleft lip and palate, deformities of the extremities, and malformations of the genitourinary system and prominent digital syndactyly. Rüdiger et al. [4] and Freire-Maia [10] in 1970 reported a very similar clinical condition and described it as EEC syndrome. Treatment of such patients requires a multidisciplinary approach.

The present article is a case report of a 4 year 11 months old male child with EEC syndrome having ectodermal dysplasia-cleft lip and cleft palate and ectrodactyly with some associated features. Clinical features, diagnosis and role of a dentist in the multidisciplinary treatment approach have been elaborated in this case report.


   Case Report Top


A 4 year 11 months old male reported to the Outpatient Department of Pedodontics and Preventive Dentistry with the chief complaint of multiple decayed teeth.

History revealed that child was born by cesarean delivery to a 24-year-old woman and 39-year-old man. At the time of birth, the baby had cleft lip and cleft palate and distal limb anomalies. No similar family history was noted. Cleft lip repair was performed at 3 months 17 days of age and palatoplasty was done at 10 months of age.

On extra-oral examination, surgical scar mark was present on the philtrum area of upper lip related to cleft lip surgery [Figure 1]. Second toe of both feet were found to be absent, and fusion of third and fourth toe were noted [Figure 2]. No such abnormalities were found in hand [Figure 3]. Hair present was fine in texture and light in color [Figure 1]. There was sparse hair on the body and scalp and no hair on the back of the hands. Upper and lower eyelids of both sides showed sparse eyelashes. The skin was warm and dry. Hyperkeratosis of the skin in hands and feet were noted.
Figure 1: Extraoral view

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Figure 2: Second toe of both feet is absent, and fusion of third and fourth toe (right), no abnormality in hand (left)

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Figure 3: Intraoral view, maxilla mandible in occlusion

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Intraoral examination revealed missing 51, 52, 61, 62 with cleft present at the premaxillary region [Figure 3]. 53, 54, 55, 63, 64, 65, 74, 75, 84, 85 were all carious [Figure 4]. 64 was pulpally involved and tender on percussion. Maxillary arch was collapsed with both anterior and posterior cross-bite. Orthopantomogram [Figure 5] showed missing 11, 12, 21, and 22.
Figure 4: Intraoral view of the maxillary arch (right), intraoral view of the mandibular arch (left)

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Figure 5: Panoramic radiograph

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The patient was referred to medical practitioners for systemic examination. Ophthalmologic examination revealed chronic dacryocystitis with recurrent epiphora. Ophthalmologist advised digital eye message thrice daily. Ear, Nose and Throat checkup revealed bilateral conductive hearing loss and enlarged adenoids. Audiometry and speech therapy were advised. Examination of Genitourinary, Cardiovascular, Gastrointestinal and Respiratory system revealed no abnormalities. Intelligence and other developmental milestones were within normal limits (I.Q.95-100) according to Stanford-Binet method.

Blood examination revealed neutropenia (42%) and eosinophilia (9%). Skin biopsy performed from right forearm revealed hyperkeratosis and mild acanthosis in epidermis and absence of sebaceous glands in dermis. The hair follicles and the sweat glands were rudimentary.

Karyotyping and chromosomal analysis by GTG banding revealed no structural and numerical aberration of chromosome. Chromosomal constitution is normal male pattern.

Treatment plan was made based on the clinical and radiological examinations. Pulpectomy was done in 64, and other carious teeth were restored with glass ionomer cement. Stainless steel crown was cemented on 85 as the tooth was grossly decayed [Figure 6]. Proper oral hygiene instructions were given to the mother of the patient, and regular checkup was advised.
Figure 6: Glass ionomer cement (GIC) restorations in the maxillary arch (right), stainless steel crown and GIC restorations in the mandibular arch (left)

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   Discussion Top


Ectrodactyly-ectodermal dysplasia-cleft syndrome is a form of ectodermal dysplasia with features like defective ectodermal structures (hair, teeth, nail, skin, sweat and sebaceous glands etc.,), ectrodactyly and syndactyly as well as facial cleft. [1] The occurrence of all three disorders in one, (ectrodactyly, ectodermal dysplasia, and cleft lip/palate) is very rare (approximately 1.5/100 million). [4]

Ectrodactyly, which means absence of all or part of one or more digits is only constant component in this syndrome. Syndactyly is fusion between fingers or toes is a very common feature. [11] In our case, ectrodactyly was present with respect to second toe and syndactyly was between third and fourth toes of both feet.

Other features of EEC syndrome that may be present are hearing loss, the lacrimal duct defect, Genitourinary defect, delayed developmental milestones, malignant lymphoma, occasional mental retardation. [6]

Ectrodactyly-ectodermal dysplasia-cleft syndrome may clinically exist in two forms: One with cleft lip with or without cleft palate and other with cleft palate alone. Both forms are inherited as autosomal dominant traits. [6] In this case the patient was born with both cleft lip and cleft palate.

Genetic research relating to EEC has made great strides in recent years, but many findings are currently being debated in the literature. Chromosome 19, within the region of D19S894 and D19S416 has been postulated as the locus for the abnormalities found in EEC syndrome. This is supported by reports (though conflicting) regarding the association of cleft lip ± palate on locus 19q, which suggests that EEC could be an allelic variant. [11] More recently, the p63 gene and TP73L gene has been targeted in numerous studies. [5] Interestingly, the p63 gene-is a homologue of the tumor suppressor gene p53, [1] though this is not indicative that patients with EEC are more likely to develop tumors.

Management of cases with ECC syndrome require a multidisciplinary approach. [12],[13]

From a dental standpoint following should be done:

  • Preserve the primary dentition as long as possible.
  • Saliva substitutes in case of xerostomia if severe.
  • Restoration of carious primary as well as permanent teeth.
  • Prosthesis whenever required.


Surgical closure of cleft lip is indicated at 10 weeks of age. Closure of palate is accomplished between 12 months and 2 years of age. The primary purpose of completing palate closure by 2 years of age is to facilitate the acquisition of normal speech, because this correlates with the age at which most children begin to talk. For alveolar cleft defects, primary bone grafting is done in <2 years of age. Early secondary bone grafting procedure is performed between 2 to 4 years of age. Secondary bone grafting is done between 4 and 15 years of age, and late secondary bone grafting refers to the reconstruction of residual alveolar cleft defects in the adults. [13] In this case, cleft lip repair was performed at 3 months 17 days of age, and palatoplasty was done at 10 months of age followed by primary bone grafting. Secondary alveolar bone grafting is planned at 10 years of age. Interceptive orthodontic treatment is planned at late primary and mixed dentition period to counter developing anterior or posterior cross-bite and traumatic occlusion.

In this case, slow maxillary expansion plate is given to the patient, and fixed orthodontic and prosthetic correction is planned after final bone grafting is completed.


   Conclusion Top


Management of clinical manifestations associated with ectodermal dysplasia syndrome presents a unique challenge. Early diagnosis, sympathetic and rational attitude and a multidisciplinary treatment approach are necessary for the physical, psychological and social rehabilitation of such patients.

 
   References Top

1.Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell 1999;99:143-53.  Back to cited text no. 1
    
2.Bixler D, Spivack J, Bennett J, Christian JC. The ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. Report of 2 cases and review of the literature. Clin Genet 1972;3:43-51.  Back to cited text no. 2
[PUBMED]    
3.Cockyne EA. Cleft palate-lip, hare lip, dacryocystitis and cledt hand and foot. Biometrika 1936;28:60-3.  Back to cited text no. 3
    
4.Rüdiger RA, Haase W, Passarge E. Association of ectrodactyly, ectodermal dysplasia, and cleft lip-palate. Am J Dis Child 1970;120:160-3.  Back to cited text no. 4
    
5.van Straten C, Butow KW. Gene p63: In ectrodactyly-ectodermal dysplasia clefting, ankyloblepharon-ectodermal dysplasia, Rapp-Hodgkin syndrome. Ann Maxillofac Surg 2013;3:58-61.  Back to cited text no. 5
    
6.Rosenmann A, Shapira T, Cohen MM. Ectrodactyly, ectodermal dysplasia and cleft palate (EEC syndrome). Report of a family and review of the literature. Clin Genet 1976;9:347-53.  Back to cited text no. 6
[PUBMED]    
7.Joseph R, Nath SG. Association of generalized aggressive periodontitis and ectrodactyly-ectodermal dysplasia-cleft syndrome. Indian J Hum Genet 2012;18:259-62.  Back to cited text no. 7
[PUBMED]  Medknow Journal  
8.Marwaha M, Nanda KD. Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome). Contemp Clin Dent 2012;3:205-8.  Back to cited text no. 8
[PUBMED]  Medknow Journal  
9.Rosselli D, Gulienetti R. Ectodermal dysplasia. Br J Plast Surg 1961;14:190-204.  Back to cited text no. 9
[PUBMED]    
10.Freire-Maia N. A newly recognised genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities. Am J Hum Genet 1970;22:370-7.  Back to cited text no. 10
[PUBMED]    
11.O'Quinn JR, Hennekam RC, Jorde LB, Bamshad M. Syndromic ectrodactyly with severe limb, ectodermal, urogenital, and palatal defects maps to chromosome 19. Am J Hum Genet 1998;62:130-5.  Back to cited text no. 11
    
12.Batra P, Duggal R, Parkash H. EEC syndrome: A case report. J Indian Soc Pedod Prev Dent 2003;21:75-8.  Back to cited text no. 12
[PUBMED]    
13.Jones JE, Sadove AM, Dean JA, Huebener DV. Multidisciplinary team approach to cleft lip and palate management. In: Dean JA, Avery DR, McDonald RE, editors. Dentistry for the Child and Adolescent. 9 th ed. New Delhi: Elsevier; 2012. p. 614-37.  Back to cited text no. 13
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]



 

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