Journal of Indian Academy of Oral Medicine and Radiology

CASE REPORT
Year
: 2009  |  Volume : 21  |  Issue : 2  |  Page : 76--78

Ectodermal dysplasia


Sonia Saggoo, Anita Munde, Manjula Hebbale, Manjiri Joshi 
 Department of Oral Medicine and Radiology, Rural Dental College of Pravara Institute of Medical Sciences, Aurangabad, Maharashtra, India

Correspondence Address:
Sonia Saggoo
5-6-66/67, Indraprastha, Osmanpura, Aurangabad, Maharashtra
India

Abstract

Hereditary hypohidrotic ectodermal dysplasia, also called the Christ-Siemens-Touraine Syndrome is characterized by congenital dysplasia of one or more ectodermal structures and is manifested by hypohidrosis, hypotrichosis and hypodontia. It is usually an X-linked recessive mendelian character which is rarely seen in males. It results from abnormal morphogenesis of cutaneous and oral embryonic ectoderm. Patients with this disorder exhibit smooth , thin and dry skin, fine and blond scanty hair. Intra-orally anodontia or hypodontia, with impaired development of alveolar process is seen. A case report of a rare case of this disorder in a female patient aged 18 years is hereby presented.



How to cite this article:
Saggoo S, Munde A, Hebbale M, Joshi M. Ectodermal dysplasia.J Indian Acad Oral Med Radiol 2009;21:76-78


How to cite this URL:
Saggoo S, Munde A, Hebbale M, Joshi M. Ectodermal dysplasia. J Indian Acad Oral Med Radiol [serial online] 2009 [cited 2019 Dec 8 ];21:76-78
Available from: http://www.jiaomr.in/text.asp?2009/21/2/76/57891


Full Text

 Introduction



Ectodermal dysplasia syndrome is a large heterogeneous group of disorders, the manifestation of which could be seen in more than one ectodermal derivatives, though the defects from other embryonal layers are not uncommon. The disorders are congenital, diffuse and non-progressive. [1] The condition is thought to occur in approximately 1 of 1,00,000 live births. [2] There are about 150 types of this syndrome with all possible modes of inheritance. [1],[3] The two major types of ectodermal dysplasia are based on the number and functioning of sweat glands. They are,



X-linked anhidrotic or hypohidrotic, where sweat glands are either absent or significantly reduced in numberHidrotic where sweat glands are normal and the condition is inherited as autosomal dominant. [4] The various syndromes associated with ectodermal dysplasia are Rapp-Hodgkin Syndrome, Strandberg-Ronchese's Syndrome, Rosseli-Gulienetti Syndrome and various others. The genes responsible for this syndrome might be either mutated or deleted, some of them are Xq-12-q 13.1, PVRL1 and GJB6.

The X-linked hypohidrotic ectodermal dysplasia has full expression only in males; though females outnumber the affected males, they show little or no signs of the condition.

The clinical features include sparse, fine, blond hair with abnormal texture of the scalp, eyebrows and eyelashes, dry skin, nail defects, frontal bossing, depressed nasal bridge and protuberant dry and cracked lips. Complete or partial absence of sweat glands can cause dry skin and eczema and there may be heat intolerance or hyperthermia in warm conditions. [5] The other signs are short stature, eye abnormalities, decreased flow of tears and photophobia. The commonly occurring oral manifestations are anodontia or oligodontia with malformation of teeth present in both deciduous and permanent dentition. The roots of the teeth are usually short and conical. In case of complete anodontia, the alveolar process will fail to develop and the vertical dimension will reduce leading to protuberant lips.

Here we present a case of hypohidrotic ectodermal dysplasia with hypodontia in a female patient aged about 18 years.

 Case Report



A female patient aged 18 years came to the department of Oral medicine and Radiology with the chief complaint of missing teeth. On extra-oral examination it was observed that she had a receding hairline, scanty eyebrows, dry and parched skin which gave a scaly appearance. She had depressed nasal bridge, prominent supra-orbital ridges and frontal bossing. Her lips were protuberant. She gave a history of having difficulty in tolerating high temperatures, especially during summers [Figure 1] and [Figure 2].

On intra-oral examination she had many missing teeth. The only teeth present were 17,16,14,13,23,26,27. The canines and premolar were cone-shaped, though all the other teeth also had altered morphology [Figure 3]. The mandibular ridge was completely edentulous and appeared flat [Figure 4]. The overall vertical dimension of face was also reduced.

Orthopantomogram was taken to look for any impacted teeth. On radiographic examination no impacted teeth were observed, though the roots of teeth present were found to be short and conical [Figure 5]. Based on clinical appearance of patient, intra-oral examination and radiographic investigation, the diagnosis of ectodermal dysplasia was arrived at.

 Discussion



Ectodermal dysplasia constitutes a complex group of diseases characterized by various defects in hair, nails, teeth and sweat glands.

Charles Darwin cited Wedderburn as having found the disorder in an Indian from the subcontinent. According to Perabo et al. it may have been recorded as early as 1972 by Danz. Christ in 1913, further defined it as congenital "ectodermal defect", Weech in 1929, impressed by the depression of sweat gland function coined the term "anhidrotic ectodermal dysplasia". [6]

Various classifications for this disorder exist. Freire-Maia and Pinherio have proposed a classification based on the involved ectodermal derivative. In this classification "1" indicates hair dysplasia, "2" dental dysplasia, "3" nail dysplasia and "4" sweat gland dysplasia. Based on this, there are more than ten subgroups in the Freire-Maia and Pinherio classification. [7]

Freire-Maia defined the nosologic group of ectodermal dysplasia as any group that exhibits at least two of the following features: 1. trichodysplasia (abnormal hair), 2. abnormal dentition, 3. onchodysplasia (abnormal nails) and 4. dyshidrosis (abnormal or missing sweat glands). [8]

Clinically, ectodermal dysplasia may be divided into two broad categories. One is the hypohidrotic form which is X-linked, characterized by the classical triad of hypodontia, hypotrichosis and hypohidrosis, which is also termed as Christ-Touraine Syndrome. [2] The other category is that of the hidrotic form described by Cloustan which usually spares the sweat glands and can affect the teeth, hair and nails.

The presentation of facial deformity, dry skin, sparse hair in this case report is similar to previous reports. These features are due to anomalies of the skin appendages which include the hair follicles, sweat glands and sebaceous glands. [3],[9],[10],[11]

The intolerance of heat and hyperthermia observed in the patient is also similar to the previous reports which is again due to absence of sweat glands. [5],[9],[10],[11]

Our patient had normal shape and form of fingernails and toenails, this is similar to the observations made by Md. K. E. Tony. [5] This is in contrast with the reports by Akhyani. M. [7]

The lacrimation in this patient was normal in contrast with the reports of Md. K. E. Tony. [5]

Van Ramos et al. [10] observed complete anodontia, reduced vertical dimension and over-closure in their patient. Jain.V. [11] also reported a case of complete anodontia. In this patient there was absence of many permanent teeth, reduced development of alveolar ridge and protuberant lips. In ectodermal dysplasia, because so many teeth are missing, vertical dimension is reduced and lips are protuberant. The vermilion border is indistinct and pseudorhagades may be present.

The altered morphology of teeth, i.e., conical appearance with short roots is also similar to that reported by Md. K. E. Tony. [5]

The patient had a normal palate i.e., without cleft which was observed by Crawford [9] in their patients.

We have reported a case of a female patient with ectodermal dysplasia having trichodysplasia, abnormal dentition and dyshidrosis but without onchodysplasia.

The most important aspect to be considered in these patients is the psychological impact on the child and the parents due to absence of teeth. The appearance of the patients can be greatly enhanced by making removable prosthodontic appliances. Dental implants may also be successfully employed to support and retain teeth. [12] Edentulousness can result in a potentially stressful situation that can influence the child's whole outlook in life. Early dental treatment is therefore an essential part of the management of ectodermal dysplasia

 Acknowledgment



Sincere thanks to Dr. Safia Shoeb (HOD Dept of Oral Medicine and Radiology), Dr. Lingraj, Dr. Ujwala Kale (Senior lecturers) for their constant support and encouragement to make this endeavor possible.

References

1Rajendran R, Sivapathasundharam B, editors. Shafer's Text book of Oral Pathology. 5 th ed. Elsevier; 2006. p. 1099-102.
2Shigli A, Reddy RV, Hugar SM, Deshpande D. Hypohidrotic ectodermal dysplasia: Aunique approach to esthetic and prosthetic management: Acase report. J Indian Soc Pedod Prev Dent 2005;23:31-4.
3Murdock S, Lee JY, Guckes A, Wright JT. A costs analysis of dental treatment for ectodermal dysplasia. JADA 2005;136:1273-6.
4Nunn 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;194:245-51.55
5Tony Md KE, Feteih RM, Farsi JM. Heriditary hypohidrotic ectodermal dysplasia with anodontia: a case report. Saudi Dent J 1994;6:31-4.6
6Gorlin RJ, Cohen MM, Henekan RC. Syndromes of the Head and Neck. 4 th ed. Oxford: University Press; 2001. p. 540-1.7
7Akhyani M, Kiavash K. Ectodermal dysplasia with alopecia, onychodysplasia, hypohidrosis, keratoderma, abnormal teeth and deafness. Indian J Dermatol Venereol Leprol 2007;73:409-11.
8Pigno MA, Blackman RB, Cronin RJ Jr, Cavazos E. Prosthodontic management of ectodermal dysplasia:A review of the literature. J Prosthet Dent 1996;76:541-5.
9Crawford PJ, Aldred MJ, Clarke A, Tso MS. Rapp-Hodgkin syndrome: An ectodermal dysplasia involving the teeth, hair, nails and palate. Oral Surg Oral Med Oral Pathol 1989;67:50-62.
10Ramos V, Giebink DL, Fisher JG, Christensen LC. Complete dentures for a child with hypohidrotic ectodermal dysplasia: A clinical report. J Prosthet Dent 1995;24:329-31.
11Jain V, Prakash H. Posthodontic rehabilitation for ectodermal dysplasia patients. J Indian Soc Pedo Prev Dent 2000;18:54-8.
12Albert DG, Jaimes SB, George RM, Susan FR, Lyndon FC. Using endosseous dental implants for patients with ectodermal dysplasia. JADA 1991;122:59-62.