aila Umer1, Nadia Zaib2, Rabia Masood3
1 Demonstrator, Department of Oral Pathology, Islamic International Dental Hospital, Islamabad.
2 Assistant Professor oral pathology, Islamic international dental college, Islamabad
3 lecturer oral pathology, Islamic international dental college, Islamabad
Correspondance :“Dr. Naila Umer”
How to CITE:
Umer N. Zaib N, Masood R. Hypohidrotic Ectodermal Dysplasia: A Case Report. J Pak Dent Assoc.2013; 22(1): 227-230.
Abstract
Ectodermal dysplasia is a hereditary disorder that occurs as a consequence of disturbance in ectoderm of developing embryo. Hypohidrotic ectodermal dysplasia or anhidrotic ectodermal dysplasia is most common syndrome among large group of hereditary disorders.the triad of nail dystrophy,alopecia or hypotrichosis and palmoplantar hyperkeratosis is usually accompanied by lack of sweat glands and a partial or complete absence of primary or permanent dentition. A case study of 39 year old female with hypohidrotic ectodermal dysplasia with positive family history is presented.
KEYWORDS:
Ectodermal Dysplasia, Hypodontia, Anodontia, Hypohydrosis.
INTRODUCTION
The Ectodermal dysplasia (EDs) comprises a large heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from embryonic ectoderm. The tissues primarily involved are the skin, hair, nails, eccrine glands and teeth. Although Thurnam published the first report of a patient with ectodermal dysplasia in 1848, 1 but the term was not coined until 1929 by Weech2.The ectodermal dysplaisas are congenital, diffuse and non-progressive disorder.
It comprises of over 150 different syndromes of unknown pathogenesis 3,4. Hypohidrotic ectodermal dysplasia, also called as Christ-Siemens Touraine syndrome or anhidrotic ectodermal dysplasia is the most common of all forms. Its frequency has been reported to be affecting 1-7 per 10,000 live births 5..Clinical features include sparse, fine blond hair with abnormal texture of the scalp, eyebrows and eyelashes, dry skin, nail defects, prominent forehead, depressed nasal bridge and protuberant dry and cracked lips.6,7,8,9.Complete, as well as partial, absence of sweat glands can cause dry skin and eczema and there may be heat intolerance or hyperthermia in warm condition.7,9Xerostomia due to hypoplastic accessory salivary glands may cause drying and cracking of the lips.11. The objective of this study is to report a case of hereditary Hypohidrotic ectodermal dysplasia in 39 yr old female.
CASE REPORT
A Thirty nine year old female from Mansehra reported to us in at OPD of ISLAMIC INTERNATIONAL DENTAL HOSPITAL with chief complaint of absence of teeth and wanted their replacement. She was referred to department of Prosthodontics. Dental history revealed delayed eruption of primary teeth and total absence of permanent teeth. She mentioned that only maxillary six teeth erupted out of which three exfoliated and three are still present. She also gave history of heat intolerance and almost complete absence of sweating.
Clinical examination of patient showed very fine, sparse and brittle hairs on the scalp, skin appeared to be dry and wrinkled. Depressed nasal bridge and periorbital pigmentation was also noted. (Figure 1).Frontal bossing with complete absence of eye brows and eyelashes was seen (Figure 2).The lower facial height is decreased due over closed profile making lips more prominent and protuberant. Nails appeared to be normal but skin of hands was dry and wrinkled. On dental examination total anodontia of mandible and maxillary hypodontia was seen. In maxillary arch two central deciduous incisors and left deciduous molar was seen (Figure3, 4). Orthopentanogram showed absence of teeth in mandible and presence of only primary central incisors and left maxillary deciduous molar along with resorbed alveolar ridges (Figure5)
The combined clinical and dental findings pointed towards the diagnosis of Hypohidrotic ectodermal dysplasia. She is youngest amongst her sister and brothers and she was only one affected amongst them. Her family history also revealed that two of her niece and nephew are affected with this condition. Proposed treatment plan given to patient was mandibular complete denture and maxillary overdenture. But due to some of her personal issues she did not report to us for further treatment.
DISCUSSION
Usually the ectodermal dysplasiais divided into two types based on the number and function of sweat glands24 (Viera et al, 2007) 1. Hypohidrotic ectodermal dysplasia / Christ-Siemens-Tourine Syndrome; where sweat glands are absent or markedly reduce in number. 2.Hidrotic Ectodermal Dysplasia /CloustonSyndrome; sweat glands are normal in number.
The dentition and hair are affected similarly in both types, but the hereditary patterns and nail and sweat gland manifestations tend to differ.12Hypohidrotic ectodermal disorder is usually inherited as either autosomal dominant / recessive or X-linked recessive trait and the gene locus is X q13-q21.X-linked recessive Hypohidrotic ED ( ChristSiemens-Touraine syndrome), or anhidrotic ectodermal dysplasia and immunodeficiency (EDA-ID), is caused by mutations in gene EDAEDA, which encodes the ectodysplasin protein which in turn activates the NFkappaB and essential modulator (NEMO), resulting in conical teeth, sparse hair, anhidrosis or Hypohidrotic, and . [13] recurrent bacterial infections .HED manifest as triad of 1 4 hypohidrosis,hypotrichosisand hypodontia . Characteristic features include frontal bossing reduction in amount of hair (hypotrichosis), absence of sweat glands (anhidrosis) resulting in temperature elevation, absence of sebaceous glands (asteatosis) resulting in dry skin, depressed nasal bridge, protuberant lips, prominent supra orbital ridges , sunken cheeks, wrinkled hyperpigmented skin around the eyes and large low set ears (Crawford et al ,1991).15 .Oral traits of ectodermal dysplasia (ED) may be expressed as anodontia or hypodontia, with or without a cleft lip and palate. Anodontia also manifests itself by a lack of alveolar ridge development 16 as a result, the vertical dimension of the lower face is reduced, the vermilion border disappears, existing teeth are malformed, the oral mucosa becomes dry, and the lips become prominent. Hidrotic ED (Clouston syndrome), which is an autosomal dominant disorder, is caused by mutations in GJB6.The clinical features include nail dystrophy, hair defects and palmoplantardyskeratosis. The patients have normal facies, normal sweating and no specific defect is seen. The treatment for a patient with ectodermal dysplasia varies and generally depends on age of patient, dental agenesis, degree of malformation of teeth, the growth and development of the stomatognathic system of the patient and patient’s motivation. For young patients suggested treatment include removable partial denture, complete denture ,over denture and flexible dentures implant therapy is not the treatment choice in children due to ongoing growth and development and insufficient alveolar bone support.17.In adult patient all other treatment options can be pursued but the best are a fixed partial denture or and endosseous implant therapy. Lack of bone density, knife edge mandible ridge will require bone grafting for the placement of implants.25,26
Many case reports were presented regarding features 10 of HED. Beckerman reported the case of a female patient with anhidrotic ectodermal dysplasia and lacrimal gland anomaly. Shaw 8, Brodie and Sarnat18described cases of complete anodontia of both deciduous and permanent dentitions. .Mehmet Bani19,reported two cases of ectodermal dysplasia with anodontia in young children..K 2 0 Ramesh reported 5 cases who suffered from 21 Hypohidrotic ectodermal dysplasia. J Jananee also presented acase on HED.In one case-controlled study of 68 persons with oligodontia, 57% had disturbances in hair, nails, and/or sweat production in addition to defective teeth, and were classified as having ED.22ArfanulBari23 reported a case of HED involving sweat glands .Atopic eczema was seen on face and limbs. Other ectodermal structures like nails, hairs were unaffected. All teeth were present, just central incisors were malformed and widely spaced. This case appeared to be different from others. Medical care of patient depends on which ectodermal structure is involved. In above case report the temperature of body was elevated so it is advisable to have frequent consumption of cool liquids to maintain adequate hydration and thermocoagulation. For patient with dental defects, early dental evaluation and intervention is advised. In above case report an overdenture in maxilla and in mandible complete denture or endosseous implants with ridge augumentation were advised.
REFERENCES
1. Thurnam J. Two cases in which the skin, hair and teeth were very imperfectly developed. Proc RM Chir Soc. 1848;31:71-82.
2. Weech AA. Hereditary ectodermal dysplasia (congenital ectodermal defect).Am J Dis Child. 1929;37:766-769.
3. Kere J, Srivastava AK, Montonen O, Zonana J, Thomas N, Ferguson B, et al. X-linked anhidrotic (Hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet. 1996;13:409-416.
4. Borg P, Midtgaard K. Ectodermal dysplasia: report of four cases. ASDC J Dent Child. 1977;44:314-319.
5. Paschos E, Huth KC, Hickel R. Clinical management of Hypohidrotic ectodermal dysplasia with anodontia: case report. J ClinPediatr Dent. 2002 ;27:5-8.
6. Itin PH, Pittelkow MR. Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with ectodermal dysplasia. JAmAca Dermatol 1990;22:705
7. Cawson RA, Evesen JW. Oral pathology diagnosis. Philadelphia:WB Saunders Co, 1987:26-27.
8. Shaw RM. Prosthetic management of Hypohidrotic ectodermal dysplasia with anodontia. Case report.Austral Dent J 1990;35:113-116.
9. Shafer WG, Hine MK, Levy BM. A textbook of oral pathology. 4th ed. Philadelphia: WB Saunders Co,1983:805-808.
10. Beckerman BL. Lacrimal anomalies in anhidrotic ectodermal dysplasia. Am J Ophthalmol. 1973 ;75:728-730.
11. Crawford PJ, Aldred MJ, Clarke A, Tso MS. Rapp-Hodgkin syndrome: An ectodermal dysplasia involving the teeth,hair, nails and palate. Report of a case and review of the literature. Oral Surg Oral Med Oral Patholgy 1989;67:50-62.
12. Tarjan I, Gabris K, Rozsa N. Early prosthetic treatment of patients with ectodermal dysplasia: a clinical report. J Prosthet Dent. 2005;93:419-424
13. Chang TT, Behsad R, Brodell RT, Gilliam AC. A male infant with anhidrotic ectodermal dysplasia/immunodeficiency accompanied by incontinentiapigmenti and a mutation in the NEMO pathway. JAmAcadDeramatol 2008;58:316-320.
14. Bal E, Baala L, Cluzeau C, El Kerch F, Ouldim K, HadjRabia S, et al. Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. Hum Mutat 2007;28:703-709.
15. Crawford PJ, AlredMJ, and Clarke A: Clinical and radiographic dental findings in X- linked Hypohidrotic ectodermal dysplasia. J Med Genet 1991; 28:181-185
16. Ramos V, Giebink DL, Fisher JG, Christensen LC. Complete dentures for a child with Hypohidrotic ectodermal dysplasia: a clinical report. J Prosthet Dent. 1995;74:329-331.
17. Jain N, Naitam D, Wadkar A, Nemane A, Katoch S, Dewangan A. Prosthodontic rehabilitation of hereditary ectodermal dysplasia in an 11-year-old patient withflexible denture: a case report. Case Rep Dent. 2012;2012:489769.
18. Brodie AG, Sarnat BG. Ectodermal dysplasia (anhidrotic type) with complete anodontia . A serialroentgenographiccephalometric appraisal. Am J Dis Child 1942;64:1045-1046
19. Bani M, Tezkirecioglu AM, Akal N, Tuzuner T. Ectodermal dysplasia with Anodontia: a report of two cases. Eur J Dent. 2010 ;4;215-222.
20. K Ramesh, D Vinola, John B John ; Hypohidrotic ectodermal dysplasia – Diagnostic aids and a report of 5 cases ; DOI:10.4103/0970-4388.60474
21. Jananee J, Satishkumar M, Balaji S. Ectodermal dysplasiaA Case report.Indian J Multidiscip Dent. 2012;2:465-467
22. Nordgarden H, Jensen JL, Storhaug K. Oligodontia is associated with extra-oral ectodermal symptoms and low whole salivary flow rates. Oral Dis 2001;7:226-232
23. Bari AU ,Rehman SB. Hypohidrotic ectodermal dysplasia A case report and literature review. J Pak Assoc Dermatol. 2007;17:52-55
24. Vieira KA , Teixeira MS , Guirado CG , GaviaoMB:Prosthodontic treatment of hypohidrotic ectodermal dysplasia with complete anodontia: Case report. Quintessence International, 2007;38:75-80.
25. Bhargava A, Sharma A, Popli S, Bhargava R. Prosthodontic management of a child with ectodermal dysplasia: a case report. J Indian Prosthodont Soc. 2010 ;10:137-140.
26. Bayat M, Khobyari MM, Dalband M, Momen-Heravi F. Full mouth implant rehabilitation of a patient with ectodermal dysplasia after orthognathic surgery, sinus and ridge augmentation: a clinical report. J AdvProsthodont.