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 Table of Contents  
CASE REPORT
Year : 2018  |  Volume : 8  |  Issue : 2  |  Page : 111-114

Ectrodactyly, ectodermal dysplasia, and cleft lip or palate syndrome: A review with rare case report


Department of Oral Medicine and Radiology, SPD College and Hospital, DMIMSDU, Wardha, Maharashtra, India

Date of Web Publication31-Dec-2018

Correspondence Address:
Dr. Aarati S Panchbhai
Department of Oral Medicine and Radiology, SPD College and Hospital, DMIMSDU, Sawangi-M, Wardha - 442 001, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijmd.ijmd_30_18

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  Abstract 


Ectrodactyly, Ectodermal dysplasia, and cleft lip or palate (EEC) syndrome is a rare ectodermal dysplasia syndrome, and very few cases are reported in the Indian literature. Ectodermal dysplasia constitutes a heterogeneous group of disorder characterized by various defects in hair, nails, teeth, and sweat glands. The term “EEC syndrome” was coined by Rudiger et al. in 1970. The syndrome results from developmental anomalies that involve both ectodermal and mesodermal tissues and consists of EEC. It is a complex multiple congenital anomalies syndrome in which any of the three cardinal signs are present in variable expression, specific clinical pattern of defects may lead to correct diagnosis. Prosthodontic rehabilitation may aid in restoring the normal function and esthetic in such patients. The present article reviews the literature on EEC syndrome and reports on the Indian kindred consisting of two siblings with ectodermal dysplasia, one of them (a boy) presented with EEC syndrome.

Keywords: Ectodermal dysplasia; ectrodactyly; ectrodactyly; ectodermal dysplasia and cleft lip or palate syndrome


How to cite this article:
Panchbhai AS. Ectrodactyly, ectodermal dysplasia, and cleft lip or palate syndrome: A review with rare case report. Indian J Multidiscip Dent 2018;8:111-4

How to cite this URL:
Panchbhai AS. Ectrodactyly, ectodermal dysplasia, and cleft lip or palate syndrome: A review with rare case report. Indian J Multidiscip Dent [serial online] 2018 [cited 2019 Dec 15];8:111-4. Available from: http://www.ijmdent.com/text.asp?2018/8/2/111/249119




  Introduction Top


Ectrodactyly, ectodermal dysplasia, and cleft lip or palate (EEC) syndrome involve both ectodermal and mesodermal tissues.[1],[2],[3],[4] “Ectodermal Dysplasia Syndromes” are defined by the combination of ectodermal defect in association with other anomalies,[1],[3] the example is the EEC syndrome. It does not show sexual predilection.[1] The clinical features are summarized in [Table 1].[1],[2],[3],[4] EEC syndrome (OMIM: 129900)[5],[6] shares some or all of its features with other syndromes such as ADULT (OMIM: 103285) syndrome, limb-mammary syndrome (OMIM: 603543), lacrimoauriculodentodigital syndrome, ectrodactyly-cleft palate syndrome, second heart field malformations, OMIM: 605289), Rapp–Hodgkin syndrome (OMIM: 129400), and Hay–Wells (AEC, OMIM: 106260) syndrome.[2],[5],[6],[7],[8],[9],[10],[11]
Table 1: Clinical features of ectrodactyly, ED, and cleft lip or palate syndrome[1],[2],[3],[4],[5]

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EEC can be both familial and sporadic, caused by missense mutations in p63 gene located on the long arm of chromosome 3 (3q27).[7],[10],[11] It inherits in autosomal dominant manner with incomplete penetrance.[1],[7] The present article reviews the literature and presents the report on the Indian kindred presenting with EEC syndrome.


  Case Reports Top


Two siblings, an 8-year-old boy and a 12-year-old girl, reported with chief complaint of the inability to chew and itching all over the body. Their ancestors and parents were normal and had consanguineous marriage. Mother gave a history of full-term normal delivery with no history of trauma or drug intake or illness prenatally.

Case 1

The features observed in boy on extraoral examination and intraoral examinations are presented in [Table 2].
Table 2: Features observed in boy on clinical examination

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On general examination [Figure 1] and [Figure 2]:
Figure 1: Upper extremity as transverse hemimelia, with malformed elbow joint and wrist joint, clawed hands with ectrodactyly (boy)

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Figure 2: Right lower limb with shortened distal portion and abnormal right ankle joint with sole facing upward (boy)

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  • Short stature
  • Ectromelia with upper and lower limbs
  • Underdeveloped distal portions of both the upper limbs may be specified as transverse hemimelia, with malformed elbow joint and wrist joint
  • Both hands showed ectrodactyly with the absence of thumb
  • Slender fingers were typically bent at first interphalangeal joint


  1. The distal portion of the right lower limb was shortened with abnormal right ankle joint with sole of the foot facing upward.


Case 2

The features observed in girl on extraoral and intraoral examination [Figure 3] and [Figure 4] are summarized in [Table 3].
Figure 3: Partially edentulous upper and lower arch (girl)

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Figure 4: Orthopantomogram with partially edentulous upper and lower arches, teeth showing permanent tooth morphology, deficient basal bone height (girl)

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Table 3: Features observed in girl on clinical examination

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On general examination:

  • Bifid thumb of the right hand
  • Yellow to brownish discoloration of the nails
  • Abnormally wide clefts between big toe and adjacent small toe
  • Prominent bony bulge in mid of the right clavicle of size 2.5 cm × 2.0 cm.


Patients were also sent for thorough physical evaluations, and no abnormality was detected.


  Discussion Top


The clinical features exhibited in case of boy were hypohidrotic ectodermal dysplasia (ED), ectrodactyly, distal limb deformities without cleft lip or palate, the boy was diagnosed as the sporadic case of EEC syndrome and a girl as a case of hypohidrotic ED syndrome with multiple anomalies. Wallis reported a fourth-generation family with EEC syndrome without orofacial clefting in accordance with other studies.[2],[3],[12] Although parents of the siblings were related and hence the chances of occurrence of developmental anomalies are amplified in this case, the association with ED indicates diagnosis toward “Ectodermal Dysplasia Syndrome” than any other condition.

The patients were referred to pedodontia and prosthodontia departments for oral habilitation and to dermatology department. The girl was delivered upper and lower overdentures. However, the boy was not willing to undergo dental treatment.

It is listed as a “rare disease,” overall prevalence seems to be in the order of 100 per 1 million of population.[2] EEC syndrome was first described by Cockayne in 1936; however, the acronym was coined later by Rudiger et al.[4] Any of the three cardinal manifestations may present with variable clinical expressions,[4] the constellation of all three appears to be a rare occurrence. The absence of any of the clinical features or negative finding on specific testing does not rule out the diagnosis as every person with EEC syndrome does not have every finding.[1],[7] Moreover, scientists have not yet found all of the mutations in p63 gene.

A nationwide study established the diagnostic criteria for EEC syndrome as follows:[3]




  Conclusion Top


EEC syndrome involves both ectodermal and mesodermal tissues to show variable manifestations. Hence, the effective management of cases with EEC syndrome requires a multidisciplinary approach preferentially involving plastic surgeon, dental surgeon, and psychotherapist.[2],[3],[13] The present paper would benefit the readers by making them aware of this rare syndrome and its meager literature available.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Shah KN. Overview: Ectodermal Dysplasia. eMedicine Dermatology Pediatric Diseases. Elston DM, editor. Available from: http://www.emedicine.medscape.com/article1110595-overview. [Last updated on 2016 Feb 24].  Back to cited text no. 1
    
2.
Capuoto R, Tadini G. Ectodermal Dysplasia and Related Disorders. An Atlas of Genodermatoses. UK: Taylor and Francis; 2006. p. 372-428. Available from: http://www.saudedireta.com.br/catinc/tools/e_books/ Atlas_of_Genodermatoses.pdf. [Last accessed on 2018 Sep 24].  Back to cited text no. 2
    
3.
Buss PW, Hughes HE, Clarke A. Twenty-four cases of the EEC syndrome: Clinical presentation and management. J Med Genet 1995;32:716-23.  Back to cited text no. 3
    
4.
Cyriac MJ, Lashpa E. Lobster-claw hand: A manifestation of EEC syndrome. Indian J Dermatol Venereol Leprol 2006;72:54-6.  Back to cited text no. 4
[PUBMED]  [Full text]  
5.
EEC Syndrome 3 and Related Syndrome. Cardiff RGC. Genetic Testing Registry Network. UK Genetic Testing Network. Htm; 2013. Available from: https://www.ukgtn.nhs.uk/find-a-test/search-by-disorder-gene/ ectrodactyly-ectodermal-dysplasia-and-cleft-lip-palate- syndrome-3-983/. [Last accessed on 2018 Sep 24].  Back to cited text no. 5
    
6.
Kniffin CL. Antonarakis SE, Ward DI. Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, EEC3, OMIM Entry- Ectrodactyly, ectodermal dysplasia and cleft lip or palate EEC.htm, Retrieved from: https://www.omim.org/entry/604292. [Last accessed on 2018 Sep 24].  Back to cited text no. 6
    
7.
Kathleen A, Fergus MS, G Thompson, G Detroit. EEC syndrome, Gale Encyclopedia of Genetic disorders. Retrieved from: https://www.encyclopedia.com/science/encyclopedias-almanacs-transcripts-and-maps/ectrodactyly-ectodermal-dysplasia-clefting-syndrome, copyright 2002. [Last accessed on 2018 Oct 30].  Back to cited text no. 7
    
8.
Tuula R, Emanuela S, Klaus WK, Cesare D, Daniela L, Marianne K. Delineation of the ADULT syndrome phenotype due to arginine 298 mutations of the p63 gene. Eur J Hum Genet 2006;14:904-10.  Back to cited text no. 8
    
9.
Bokhoven VH, Hamel BC, Bamshad M, Sangiorgi E, Gurrieri F, Duijf PH, et al. P63 Gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet 2001;69:481-92.  Back to cited text no. 9
    
10.
Brunner HG, Hamel BC, Van Bokhoven H. The p63 gene in EEC and other syndromes. J Med Genet 2002;39:377-81.  Back to cited text no. 10
    
11.
Barrow LL, van Bokhoven H, Daack-Hirsch S, Andersen T, van Beersum SE, Gorlin R, et al. Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. J Med Genet 2002;39:559-66.  Back to cited text no. 11
    
12.
Wallis CE. Ectrodactyly (split-hand/split-foot) and ectodermal dysplasia with normal lip and palate in a four-generation kindred. Clin Genet 1988;34:252-7.  Back to cited text no. 12
    
13.
Nunn JH, Carter NE, Gillgrass TJ, Hobson RS, Jepson NJ, Meechan JG, et al. The interdisciplinary management of hypodontia: Background and role of paediatric dentistry. Br Dent J 2003;194:245-55.  Back to cited text no. 13
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]
 
 
    Tables

  [Table 1], [Table 2], [Table 3]



 

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