Journal of Craniomaxillofacial Research 2017. 4(2):377-382.

Ectodermal dysplasia: A report of two cases
Mozhgan Kazemian, Farnoosh Razmara, Nafiseh Ghadiri Moghadam


Introduction: Ectodermal dysplasia (ED) is a group of syndromes and disorders in the human body characterized by structural anomalies in the ectoderm and often associated with hair, teeth
and skin abnormalities. There are many syndromes associated with ED.
Case report: Here is a case report of two young patients with different manifestations of ectodermal dysplasia.
Conclusion: One patient was diagnosed as Rapp-Hodgkin syndrome and the other as Hypohidrotic ectodermal dysplasia, according to clinical findings.
Key words: Ectodermal dysplasia, Hypodontia, Hypohydrotia.


Ectodermal dysplasia; Hypodontia; Hypohydrotia.

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Fernandes B, Ruas E, Machado Á, Figueiredo A.Ectrodactyly‐Ectodermal Dysplasia‐Clefting Syn drome (EEC): Report of a Case with Perioral Papillomatosis. Pediatric dermatology. 2002 Jul 1;19(4):330-2.

Boyce AE, Mc Grath JA, Techanukul T, Murrell DF, Chow CW, McGregor L, Warren LJ. Ecto- dermal dysplasia‐skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene. Australasian Journal of Derma- tology. 2012 Feb 1;53(1):61-5.

Fonseca RJ. Oral and maxillofacial surgery. Saun- ders/Elsevier; 2009.[4] Salas-Alanis JC, Cepeda-Valdés R, Gonzalez-San- tos A, Amaya-Guerra M, Kurban M, Christia- no AM. [Mutation in the ED1, Ala349Thr in a patient with X-linked hypohidrotic ectoder- mal dysplasia]. Revista medica de Chile. 2011


Shin JJ, Hartnick CJ. Otologic manifestations of ec- todermal dysplasia. Archives of Otolaryngology– Head & Neck Surgery. 2004 Sep 1;130(9):1104-7.

Piccione M. A new mutation in EDA gene in X-linked hyp. Minerva Pediatr. 2012;64:59-64.

Barrow LL, Van Bokhoven H, Daack-Hirsch S, Andersen T, van Beersum SE, Gorlin R, Murray JC. Analysis of the p63 gene in classical EEC syn- drome, related syndromes, and non-syndromic orofacial clefts. Journal of medical genetics. 2002 Aug 1;39(8):559-66.

Kalil KM, Fargalley HS. Holoprosencephaly in an Egyptian baby with ectrodactyly-ectodermal dys- plasia-cleft syndrome: a case report. J Med Case Rep. 2012 Jan 24;6:35.

Lowry RB, Robinson GC, Miller JR. Dermatology Review: Hereditary Ectodermal Dysplasia Symp- toms, Inheritance Patterns, Differential Diagno- sis, Management. Clinical pediatrics. 1966 Jul 1;5(7):395-402.

Kim G, Shin H. Rapp-Hodgkin syndrome. Der- matology online journal. 2003 Dec;10(3):23-.

Bougeard G, Hadj-Rabia S, Faivre L, Sarafan-Vas- seur N, Frébourg T. The Rapp–Hodgkin syn- drome results from mutations of the TP63 gene. European journal of human genetics. 2003 Sep

Yin W, Ye X, Bian Z. Phenotypic findings in Chi- nese families with X-linked hypohidrotic ectoder- mal dysplasia. Archives of oral biology. 2012 Oct 31;57(10):1418-22.

Kargul B, et al. Hypohidrotic ectodermal dyspla- sia: dental, clinical, genetic and dermatoglyph- ic findings of three cases. J Clin Pediatr Dent.2001;26:5-12.

Kere J, et al. X-linked anhidrotic (hypohidrot- ic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Gen- et. 1996;13:409-16. Comment in: Nat Genet.1996;13:379-80.

Glavina D, et al. Hypohidrotic ectodermal dys plasia: dental features and carrier detection. Coll Antropol. 2001;25:303-10.

Bigata X, Bielsa I, Artigas M, Azon A, Ribera M, Ferrandiz C. The Ectrodactyly‐Ectodermal Dysplasia‐Clefting Syndrome (EEC): Report of Five Cases. Pediatric dermatology. 2003 Mar 1;20(2):113-8..

de Aquino SN, Paranaíba LM, Swerts MS, Martel li DR, de Barros LM, Júnior HM. Orofacial fea- tures of hypohidrotic ectodermal dysplasia. Head and neck pathology. 2012 Dec 1;6(4):460-6.

Kearns G, Sharma A, Perrott D, Schmidt B, Kaban L, Vargervik K. Placement of endosseous implants in children and adolescents with hereditary ecto- dermal dysplasia. Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodon- tology. 1999 Jul 31;88(1):5-10.

Thilander B, Ödman J, Gröteborg K, Friberg B.Osseointegrated implants in adolescents. An al-ternative in replacing missing teeth? The Europe-an Journal of Orthodontics. 1994 Apr 1;16(2):84-95.


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