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dental defects, onychodysplasia and dyshidrosis. Group A Financial support and sponsorship
includes those disorders with signs affecting at least two Nil.
of the classical structures: (1) hair, (2) teeth, (3) nails, and
(4) sweat glands. Group B includes disorders involving one Conflicts of interest
There are no conflicts of interest.
of the classical signs associated with another ectodermal
sign. “Pure” ED is characterized by only ectodermal signs
while ED syndrome combines ectodermal signs and other REFERENCES
malformations. [17]
1. Pe˜na DA, Nova AM, Pe˜na JA, Ruiz SH. Cleft foot and ectrodactyly‑ectodermic
Several clinical syndromes are characterized by ED in dysplasia‑cleft lip/palate syndrome review of the literature and report of two
association with clefting of the lip and/or palate. The new cases. Foot 2004;14:221‑6.
three most commonly recognized are (1) EEC syndrome 2. South AP, Ashton GH, Willoughby C, Ellis IH, Bleck O, Hamada T, Mannion G,
Wessagowit V, Hashimoto T, Eady RA, McGrath JA. EEC (Ectrodactyly,
(ED, ectrodactyly, cleft lip/palate); (2) Rapp‑Hodgkin 3. 3. Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in
syndrome with ED, cleft lip/palate, and midfacial the p63 gene (R279H) and DNA‑based prenatal diagnosis. Br J Dermatol
hypoplasia; and (3) Hay‑Wells or AEC syndrome. [18] 2002;146:216‑20.
3. Robinson GC, Wildervanek LS, Chiang TP. Ectrodactyly, ectodermal dysplasia,
Clinical expression of the components of this syndrome is and cleft lip‑palate syndrome. Its association with conductive hearing loss.
very diverse. The cases of EEC syndrome without cleft lip J Pediatr 1973;82:107‑9.
or cleft palate have been reported. The patient presented 4. Rüdiger RA, Haase W, Passarge E. Association of ectrodactyly, ectodermal
[19]
dysplasia, and cleft lip‑palate. Am J Dis Child 1970;120:160‑3.
in the above report showed unilateral complete cleft lip 5. Marwaha M, Nanda KD. Ectrodactyly, ectodermal dysplasia, cleft lip, and
and palate, which was the primary motivation for seeking palate (EEC syndrome). Contemp Clin Dent 2012;3:205‑20.
treatment. The frequency of presentation of the different 6. Oğur G, Yüksel M. Association of syndactyly, ectodermal dysplasia,
manifestations is as follows: ectodermal dysplasia (10‑100%), and cleft lip and palate: report of two sibs from Turkey. J Med Genet

1988;25:37‑40.
lacrimal duct alterations (70‑96.5%), ectrodactyly (78‑88%), 7. Brunner HG, Hamel BC, van Bokhoven H. The p63 gene in EEC and other
cleft lip/palate (58‑88%), urogenital alterations (15‑55%), syndromes. J Med Genet 2002;39:377‑81.
deafness (8‑28%) and mental retardation (1‑16%). [20‑22] 8. Balci S, Engiz O, Okten G, Sipahier M, Gursu G, Kandemir B. A 19‑year
follow‑up of a patient with type 3 ectrodactyly‑ectodermal dysplasia‑clefting
EEC syndrome can be diagnosed prenatally by ultrasound, syndrome who developed non‑Hodgkin lymphoma. Oral Surg Oral Med Oral
which detects the structural abnormalities associated Pathol Oral Radiol Endod 2009;108:e91‑5.
with the syndrome including cleft lip, cleft palate, 9. Soekarman D, Fryns JP. Hypohidrotic ectodermal dysplasia, central nervous
system malformation, and distinct facial features: confirmation of a distinct
kidney abnormalities and limb abnormalities. Prenatal entity? J Med Genet 1992;30:245‑7.
DNA testing can be done by chorionic villi sampling or 10. Rosenberg JB, Butrus S, Bazemore MG. Ectrodactyly‑ectodermal
amniocentesis. Mutation of the p63 gene is diagnostic for dysplasia‑clefting syndrome causing blindness in a child. JAAPOS
2011;15:80‑2.
EEC syndrome. 11. Celli J, Duijf P, Hamel BC, Bamshad M, Kramer B, Smits AP, Newbury‑Ecob R,
Although there is no specific cure for EEC syndrome, Hennekam RC, van Buggenhout G, van Haeringen A, Woods CG, van
there are many treatments available for the various Essen AJ, de Waal R, Vriend G, Haber DA, Yang A, McKeon F, Brunner HG,
van Bokhoven H. Heterozygous germline mutations in the p53 homolog p63
symptoms. Our patient’s main concern was his wide cleft are the cause of EEC syndrome. Cell 1999;99:143‑53.
lip and palate for which he underwent surgical repair. 12. Levrero M, De Laurenzi V, Costanzo A, Gong J, Wang JY, Melino G. The p53/
In most patients, the cleft lip and palate are surgically p63/p73 family of transcription factors: overlapping and distinct functions.
J Cell Sci 2000;113:1661‑70.
repaired early in life to address the issues with nutrition 13. Yang A, Schweitzer R, Sun D, Kaghad M, Walker N, Bronson RT, Tabin C,
and speech. However, many patients appear to adapt well Sharpe A, Caput D, Crum C, McKeon F. p63 is essential for regenerative
to the limb deformities of EEC syndrome. From a dental proliferation in limb, craniofacial and epithelial development. Nature
viewpoint, the dentition should be preserved as long as 1999;398:714‑8.
possible by restoring the teeth. Saliva substitutes can 14. Agrawal A, Agrawal R, Singh R, Agrawal R, Agrawal S. Lobster claw deformity.
[23]
Indian J Dent Res 2014;25:243‑7.
be used in cases of severe xerostomia. 15. Blauth W, Borisch NC. Cleft feet. Proposals for a new classification based
on roentgenographic morphology. Clin Orthop Relat Res 1990;258:41‑8.
The above patient was not extremely concerned about 16. Freire‑Maia N, Pinheiro M. Ectodermal Dysplasias: a Clinical and Genetic
the malformation of his hands or feet. The Grade II Study. New York: Alan R Liss; 1984. p. 172‑3.
ectrodactyly of his feet did not affect his gait or the fit 17. Freire‑Maia N. Ectodermal dysplasias. Hum Hered 1971;21:309‑12.
of his shoes, but gait problems are seen in Grades III or 18. Fosko SW, Stenn KS, Bolognia JL. Ectodermal dysplasias associated with
clefting: significance of scalp dermatitis. J Am Acad Dermatol 1992;27:249‑56.
greater. Treatment of the foot malformation brings the size 19. Thakkar S, Marfatia Y. EEC syndrome sans clefting: variable clinical
of the foot into the normal range, fills the cleft, corrects presentations in a family. Indian J Dermatol Venereol Leprol 2007;73:46‑8.
the secondary deformities and maintains good function. [1] 20. Dipak NK, Sheikh S, Srinivasan A. EEC (Ectrodactyly‑ectodermal dysplasia
clefting) syndrome in a Newly Born Baby. Int J Intgr Med Sci 2015;2:87‑9.
In conclusion, the ideal treatment plan includes early 21. Rodini ES, Richieri‑Costa A. EEC Syndrome: report on 20 new patients,
diagnosis and a multidisciplinary approach. An endeavor clinical and genetic considerations. Am J Med Genet 1990;37:42‑53.
should be made to establish a protocol for the treatment 22. Koul M, Dwivedi R, Upadhyay V. Ectrodactyly‑ectodermal dysplasia clefting
syndrome (EEC syndrome). J Oral Biol Craniofac Res 2014;4:135‑9.
of EEC syndrome to minimize progression of the 23. Dhar RS, Bora A. Ectrodactyly‑ectodermal dysplasia‑cleft lip and palate
deformities. syndrome. J Indian Soc Pedod Prev Dent 2014;32:346‑9.

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