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 Table of Contents  
CASE REPORT
Year : 2015  |  Volume : 27  |  Issue : 3  |  Page : 476-478

Presentation of hypohidrotic ectodermal dysplasia in two siblings


Department of Oral Medicine and Radiology, Kamineni Institute of Dental Sciences, Narketpally, Telangana, India

Date of Submission08-Dec-2014
Date of Acceptance15-Nov-2015
Date of Web Publication25-Nov-2015

Correspondence Address:
Uday Ginjupally
S/O Mallikarjuna Rao, House No. 5-10, Thallampadu, Khammam - 507 170, Andhra Pradesh
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-1363.170465

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   Abstract 

Ectodermal dysplasias are a large hereditary group of disorders which are usually manifested as X-linked recessive disorders and have a full expression in males, whereas females show little to no signs of the disorder. The two most common types of ectodermal dysplasias are hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) and hidrotic ectodermal dysplasia (Clouston syndrome). Hypohidrotic ectodermal dysplasia is characterized by hypodontia, hypotrichosis, and hypohidrosis. Here, we present two female sibling cases of hypohidrotic ectodermal dysplasia.

Keywords: Anodontia, ectodermal structures, hidrotic ectodermal dysplasia, hypohidrotic ectodermal dysplasia, orthopantomograph, siblings


How to cite this article:
Ginjupally U, Bangi BB, Gadapa L, Madki P. Presentation of hypohidrotic ectodermal dysplasia in two siblings. J Indian Acad Oral Med Radiol 2015;27:476-8

How to cite this URL:
Ginjupally U, Bangi BB, Gadapa L, Madki P. Presentation of hypohidrotic ectodermal dysplasia in two siblings. J Indian Acad Oral Med Radiol [serial online] 2015 [cited 2019 Nov 12];27:476-8. Available from: http://www.jiaomr.in/text.asp?2015/27/3/476/170465


   Introduction Top


Dental professionals commonly observe congenitally missing teeth during their routine dental practice. Hypodontia is such a condition which can occur in association with other developmental anomalies (syndromic) or as an isolated condition (non-syndromic). [1] Hereditary ectodermal dysplasia (ED) is characterized by defective formation of one or more structures derived from the ectoderm. It was first described by Thurnam in 1848 and the name was coined by Weech in 1929. [2] In 1875, Charles Darwin documented it among a Hindu family, where 10 men in the course of four generations were affected, which was communicated to him by Mr. W. Weddenburn. [3] These disorders are congenital, diffuse, and non-progressive. Hereditary ED is basically of two types: 1) hypohidrotic ED, also known as Christ-Siemens-Touraine syndrome, that exhibits the classic triad of hypohidrosis, hypotrichosis, and hypodontia and 2) hidrotic ED, also known as Clouston syndrome, in which hair and nails are affected and sweat glands are usually spared. [4] Here, we report a case of hypohidrotic ED of two female siblings.


   Case Report Top


Case 1

A female patient of age 15 years reported with a complaint of multiple missing teeth since childhood. Patient presented no history of exfoliation or extraction of teeth, but gave a history of delayed eruption of teeth. When asked about a similar history in the family, patient gave a positive history of her maternal uncle suffering from a similar complaint. Extraoral examination revealed prominent forehead and supraorbital ridges, flattened nasal bridge, dryness of eyes, lips, and skin, and sparse hair on the body and scalp. On intraoral examination, multiple missing teeth in the maxillary arch and completely edentulous mandibular arch were noted. Maxillary central incisors were conical in shape; high-arched palate and reduced salivary flow were observed. The patient was subjected to orthopantomography (OPG) which revealed multiple missing teeth [Figure 1].
Figure 1: Clinical and radiological pictures of elder sibling

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Case 2

The second case was the sibling of the first patient and was of 10 years of age. She reported with a complaint of multiple missing teeth. This patient also gave similar history regarding eruption of teeth, and on examination, we found similar features as the previous case. Intraoral examination revealed multiple missing teeth in the maxillary arch and completely edentulous mandibular arch. Maxillary central and lateral incisors appeared to be conical. High-arched palate, thin alveolar ridge, and reduced salivary flow were noticed. This patient was also subjected to OPG which revealed multiple missing teeth [Figure 2]. Based on history, clinical and radiological findings, a diagnosis of hypohidrotic ED was established.
Figure 2: Clinical and radiological pictures of younger sibling

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   Discussion Top


EDs are a heterogeneous group of inherited disorders which occur approximately 1 in every 100,000 births and are caused by primary defects in the development of two or more tissues derived from the embryonic ectoderm - hair, teeth, nails, sweat glands. At present, more than 150 types of EDs are known. [5] More than 300 cases which had undergone genetic studies revealed that X-linked mode of inheritance with its gene locus being Xq11-21.1 is carried by the female but manifested only in the male. [6] A novel transmembrane protein "ectodysplasin" (TNF family ligand) and a receptor "edar" (TNF receptor) have been identified in recent times with gene cloning. Ectodermal appendage formation and organogenesis during the initiation of development are regulated by this ligand and receptor which have a developmental regulatory role and modulation of the signaling pathways. [7]

EDs are classified into either group A or group B disorder. Group A disorders are manifested by at least two of the four classic defects of ectodermal structures (abnormal hair, abnormal dentition, abnormal nails, and abnormal or missing sweat glands) with or without other defects. Group B disorders are manifested by a defect in one classic ectodermal structure (1-4 from above) in combination with a defect in one other ectodermal structures (i.e., ears, lips, dermatoglyphics). [8] The findings of our cases were analogous with hypohidrotic (anhidrotic) ED with positive clinical findings.

The presentation of facial deformity, dry skin, and sparse hair in our case reports was similar to previous reports. These features are due to anomalies of the skin appendages which include the hair follicles, sweat glands, and sebaceous glands. [9] Most incredible oral finding of patients with hypohidrotic ED is oligodontia of primary and permanent teeth. However, congenital absence of primary teeth is relatively rare. [10] But in the present case, both the patients presented with history of non-existence of primary teeth. Teeth that were present had abnormal crown form. Teeth in the anterior region of maxilla and mandible were conical shaped. [10] In the absence of teeth, the alveolar process does not develop much, resulting in reduction of normal vertical dimension that leads to protuberant lips. In addition, high-arched palate can be more frequent and cleft palate may be present. [11] Our cases supported all the above findings except cleft palate.

Diagnostic tests

Prenatal diagnosis

Fetal skin biopsy can be obtained by fetoscopy after gender determination of the fetus by 20 weeks of intrauterine life. Either complete lack of or reduction in the number of pilosebaceous follicles and the lack of sweat gland primordia may be demonstrated in multiple skin biopsy samples on histological analysis. [12]

Skin biopsy

An absence or hypoplasia of sweat glands can be well demonstrated at hypothenar eminence which can be considered as a reliable biopsy site.

Sweat pore count

Yellow starch-iodine powder is applied to palmar or dorsal skin. Sweat pores are poorly visualized in affected children in contrast to unaffected persons, where sweating turns the powder to deep purple, allowing visualization of sweat pores.

Blaschko lines

After the application of starch-iodine stain, multiple streaky areas of hypohidrosis that follow Blaschko lines are observed, which demonstrates a mosaic pattern of areas of normal numbers of sweat pores alternating with areas of absent pores. [13]

Dental management of ED

ED usually presents with a multitude of anomalies affecting younger individuals. Management usually demands a multidisciplinary team approach. The oral rehabilitation of ED patients usually consists of complete or removable prosthesis in the developing years, followed by a definitive prosthesis after the complete development of the alveolar process. Complete denture treatment provides satisfactory rehabilitation of the patient, but might not be the treatment of choice in severely hypoplastic ridges due to poor retention. Vestibuloplasty and ridge augmentation should be considered prior to prosthetic treatment in such conditions to enhance the hard and soft tissue support. Orthodontic treatment needs to be considered for malaligned teeth to be positioned favorably prior to removable or fixed partial denture treatment. In situations of anodontia, as a method of preserving the residual alveolar ridge, dental implant treatment may be considered. [14]


   Conclusion Top


ED is a rare genetic disorder affecting not only the oral functions, but also normal body functions. Thorough examination for accurate diagnosis and treatment by multidisciplinary approach is helpful for patients with ED.

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.
Pemberton TJ, Das P, Patel PI. Hypodontia: Genetics and future perspectives. Braz J Oral Sci 2005;4:695-706.  Back to cited text no. 1
    
2.
Sharma J, Mamatha GP. Hereditary ectodermal dysplasia: Diagnostic dilemmas. Rev Clin Pesq Odontol 2008;4:35-40.  Back to cited text no. 2
    
3.
Weech AA. Hereditary ectodermal dysplasia. (Congenital ectodermal defect). Am J Dis Child 1929;37:766-90.  Back to cited text no. 3
    
4.
Vaidya S, Risbud M, Kshar A, Ramdurg P. Hereditary ectodermal dysplasia: Report of 11 patients from a family. Indian J Dent Res 2013;24:502-6.  Back to cited text no. 4
[PUBMED]  Medknow Journal  
5.
Dencheva I, Botev I, Miteva L. Hypohidrotic ectodermal dysplasia in association with Athelia. J Genet Syndr Gene Ther 2014:5:233.  Back to cited text no. 5
    
6.
Itthagarun A, King NM. Ectodermal dysplasia: A review and case report. Quintessence Int 1997;28:595-602.  Back to cited text no. 6
    
7.
Laurikkala J, Mikkola M, Mustonen T, Aberg T, Koppinen P, Pispa J, et al. TNF signaling via the ligand-receptor pair ectodysplasin and edar controls the function of epithelial signaling centers and is regulated by Wnt and activin during tooth organogenesis. Dev Biol 2001;229:443-55.  Back to cited text no. 7
    
8.
Patel A, Kshar A, Byakodi R, Paranjpe A, Awale S. Hypohydrotic ectodermal dysplasia: A case report and review. Int J Adv Health Sci 2014;1:38-42.  Back to cited text no. 8
    
9.
Crawford 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.  Back to cited text no. 9
    
10.
Deshmukh S, Prashanth S. Ectodermal dysplasia: A genetic review. Int J Clin Pediatr Dent 2012;5:197-202.  Back to cited text no. 10
[PUBMED]    
11.
Shafer WG, Hine MK, Levy BM. A Text Book of Oral Pathology. 4 th ed. Philadelphia: WB Saunders; 1993. p. 814-6.  Back to cited text no. 11
    
12.
Mortier K, Wackens G. Ectodermal Dysplasia Syndrome. Available from: https://www.orpha.net/data/patho/GB/uk-ectodermal-dysplasia-anhidrotic.pdf. [Last accessed on 2015 May 2].  Back to cited text no. 12
    
13.
Ramesh K, Vinola D, John JB. Hypohidrotic ectodermal dysplasia - Diagnostic aids and a report of 5 cases. J Indian Soc Pedod Prev Dent 2010;28:47-54.  Back to cited text no. 13
[PUBMED]  Medknow Journal  
14.
Prasad R, Al-Kheraif AA, Kathuria N, Madhav VN, Bhide SV, Ramakrishnaiah R. Ectodermal dysplasia: Dental management and complete denture therapy. World Appl Sci J 2012;20:423-8.  Back to cited text no. 14
    


    Figures

  [Figure 1], [Figure 2]



 

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