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Hypohidrotic ectodermal dysplasia: a casereport and literature review.

INTRODUCTION: The ectodermal dysplasia is a heterogeneous group of inherited disorders which can be defined as primary defects in the development of 2 or more tissues derived from embryonic ectoderm (1). It was first described by Thurnam in 1848 and was coined by Weech (2) in 1929. Freire-Maia and Pinheiro described numerous varieties of ectodermal dysplasia involving all possible Mendelian modes of inheritance (2,3). Hypohidrotic ectodermal dysplasia is the most common with an incidence of one in 17000 people worldwide (4). Clinical spectrum of ectodermal dysplasia include manifestations in the hair (hypotrichosis, partial or total alopecia), nails (dystrophic, hypertrophic, or abnormally keratinized), teeth (enamel defects or absence), and sweat glands (hypoplastic or aplastic) are usually affected (5).

This article reviews clinical signs associated with ectodermal dysplasia and a case report.

CASE REPORT: A 18 -year-old male reported to the department of Oral Medicine and Radiology (A.B. Shetty Memorial Institute of Dental Sciences, Mangalore, Karnataka, India) with a chief complaint of missing upper and lower teeth since birth. Patient gives no history of exfoliation of teeth but gives a history of delayed eruption of teeth (at the age of 2yrs only). Patient also complains of dry skin and absence of sweat in his skin. He is intolerable to withstand hot water and hot environment. Patient gives history of dry mouth and difficulty in swallowing. On general examination, the patient was well oriented with time, place and was cooperative. On examination extra orally patient had scanty hair in eyebrows and eyelashes (Fig 1). There was frontal bossing and depressed ala of nose (Fig 2). His skin appeared soft, dry in face, upper and lower limbs. Nails appear normal. Scanty eyebrows were seen. Areas of hyperpigmentation were seen around ala of nose (Fig 1). Intra orally patient was partially edentulous teeth present were 16,26 appears conical (Fig 3). Upper and lower alveolar ridges appear normal. His panoramic radiograph was relevant to the above findings (Fig 4). So with the above clinical findings we came to an diagnosis of Hypohidrotic ectodermal dysplasia.

DISCUSSION: Hereditary ectodermal dysplasia is the defective formation of one or more structures derived from ectoderm (1). The first description of ectodermal dysplasia was given by Thurnam in 1848 and the term was coined by Weech (2) in 1929. Its inheritance is typically a cross-linked recessive trait so that the frequency and severity of the condition is more pronounced in males than in females. Freire-Maia described as a developmental defect which at embryonic level affects the ectoderm and therefore the tissues and structures derived from it (2,3). Thus it affects the development of keratinocytes and cause aberrations in the hair, sebaceous glands, ecrine and apocrine glands, nails, teeth, lenses and conjunctiva of the eyes, anterior pituitary gland, nipples and the ears (4).

Hypohidrotic form/Christ-Seimens- Tourian Syndrome & Hidrotic form/Clouston syndrome (5) are the two main clinical variants of ectodermal dysplasia. Classic clinical presentation of Hypohidrotic form comprises the triad of hypohidrosis, hypotrichosis and hypodontia. Usually X-linked recessive inheritance is seen. Males are affected severely, while females show only minor defects. In the hidrotic form teeth, hair and nails are affected (6). The sweat glands are usually spared. It is usually inherited as an autosomal dominant trait. Other inheritance modalities like autosomal recessive have also been reported (7).

Hypohidrotic characterized by soft, thin and dry skin with partial or complete absence of sweat glands which is responsible for the inability to perspire and intolerance to heat and frequent hyperthermia. The sebaceous glands are also defective or absent (6,7). Palms and soles are hyperkeratotic; psuedorrhagades are present around the eyes. "plastic wrap" appearance of the skin is characteristic of hypohydrotic type in the new born. In the hydrotic type, sweat glands develop partially; ducts may be formed but secretory coils are absent and there are reduced number of sweat pores1. Scalp hair is often fine, stiff and short. Eyelashes and eyebrows are scanty and often missing (8). The characteristic facial features are: frontal bossing, depressed nasal bridge, prominent supra orbital ridges, prominent and obliquely set ears, midface is depressed, the lower third of the face appears small due to lack of alveolar bone development, lips are protuberant (3,8). Oligodontia is the most characteristic feature of the oral cavity. The teeth that are present have abnormal crown form which is conical in shape (9). Cases have been reported where both primary and permanent dentition were congenitally missing (10)

CONCLUSION: In this report we highlighted on the extra oral and intraoral findings of Hypohidrotic ectodermal dysplasia.

REFERENCES:

(1.) Dhanrajani PJ, Jiffy AO. Management of Ectodermal Dysplasia. A Literature Review. Dental Update 1998; 25:73-75.

(2.) Kupietzky K, Milton H. Hypohidrotic ectodermal dysplasia: Prosthetic managment of hypohidrotic ectodermal dysplasia. Quintessence Int 1995; 26:285-291.

(3.) Richard AS, Karin V, Gerard K, Caries B, Kournjiarn J. Placement of an endosseous implant in a growing child with ectodermal dysplasia. Oral Surg, Oral Med, Oral Pathol 1993; 75:669-673.

(4.) Shaw RM. Prosthetic management of hypohidrotic Ectodermal dysplasia with anodontia. Case report. Aust Dent J 1990; 35; 113-116.

(5.) Piegno MA, Blackrnan RB, Cronin RJ, Cavazos E. Prosthodontic management of ectodermal dysplasia: A review of the literature. J Prosthet Dent 1996; 76:541-545.

(6.) Tanner BA. Psychological aspects of hypohidrotic ectodermal dysplasia. Birth Defects 1988; 24~263-75. 8. Nowak AJ. Dental treatment for patients with ectodermal dysplasias. Birth Defects 1988; 24:243-252.

(7.) Paschos E, Huth KC, Hickel R. Clinical management of hypohidrotic ectodermal dysplasia with anodontia: case report. J Clin Pedia Dent 2002; 27(1):5-8. Nordgarden H, Reintoft I, Nolting D, Fischer-Hansen B, Kjaer I. Craniofacial tissues including tooth buds in fetal hypohidroticectodermal dysplasia. Oral Dis 2001;7:163-70.

(8.) Jones JE, Yancey JM, Snawder KD. Psychological concomitants of treating the dentally handicapped adolescent: report of case. ASDC J Dent Child 1978; 45:313-318.

(9.) Cotti E, Vargiu P, Dettori C, Mallarini G (1999) Computerized tomography in the management and follow-up of extensive periapical lesion. Endodontics and Dental Traumatology 15, 186-9.

Fazil. K. A, Subhas Babu. G, Shishir Ram Shetty, Supriya Bhat

[1.] Post Graduate Student. Department of Oral Medicine & Radiology, AB Shetty Memorial Institute of Dental Sciences, Mangalore, Karnataka.

[2.] Professor & Head. Department of Department of Oral Medicine & Radiology, AB Shetty Memorial Institute of Dental Sciences, Mangalore, Karnataka.

[3.] Reader. Department of Department of Oral Medicine & Radiology, AB Shetty Memorial Institute of Dental Sciences, Mangalore, Karnataka.

[4.] Post Graduate Student. Department of Oral Medicine & Radiology, AB Shetty Memorial Institute of Dental Sciences, Mangalore, Karnataka..

CORRESPONDING AUTHOR:

Fazil. K. A, Department of Oral Medicine and Radiology, AB Shetty Memorial Institute of Dental Sciences, Nitte University, Deralakatte, 575018, Mangalore, Karnataka, India, E-mail: fazilbds@gmail.com, Ph: 00918904584342.

TABLE 1--Differences between the hydrotic and hypohydrotic
forms of ectodermal dysplasia (9, 10,)

                    Hydrotic                Hypohydrotic

Mode of             Most often autosomal    Most often autosomal
  Inheritance         dominant                recessive
Scalp Hair          Soft, dawny, color      Fine in texture, fair
                      is darker               and short
Teeth               Anodontia to            Anodontia to
                      hypodontia              hypodontia
Lips                No abnormality          Protruding
Sweat glands        Active                  Reduced to absent
Nasal bridge        No flattening           Underdeveloped
Nails               Dystrophic nails        No abnormality
Eyelashes/Pubic/    Scanty/absent           Variably affected
  Axillary hairs
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Article Details
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Author:Fazil, K.A.; Subhas, Babu G.; Shetty, Shishir Ram; Bhat, Supriya
Publication:Journal of Evolution of Medical and Dental Sciences
Article Type:Case study
Geographic Code:9INDI
Date:Mar 11, 2013
Words:1189
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