Indian Journal of Dental Research

CASE REPORT
Year
: 2013  |  Volume : 24  |  Issue : 4  |  Page : 502--506

Hereditary ectodermal dysplasia: Report of 11 patients from a family


Seema Vaidya, Mukund Risbud, Avinash Kshar, Praveenkumar Ramdurg 
 Department of Oral Medicine and Radiology, Vasantdada Patil Dental College and Hospital, Sangli, Maharashtra, India

Correspondence Address:
Mukund Risbud
Department of Oral Medicine and Radiology, Vasantdada Patil Dental College and Hospital, Sangli, Maharashtra
India

Abstract

Hereditary Ectodermal Dysplasia is an inherited disorder commonly involving skin, teeth, hair, and nails. We have observed ectodermal dysplasia (EDs) in 11 individuals over two generations in one family. Smooth, dry, thin skin was seen in most affected individuals. All had fine, slow-growing scalp hair and body hair and some had sparse eyebrows and short eyelashes. Nearly all showed decrease in sweating. Severe teeth abnormalities were seen in all patients and fingernail abnormalities were not so severe but toenail abnormalities were seen in all patients. No other abnormalities were seen in affected individuals in this family. It is very rare to find such a large family having ectodermal dysplasia.



How to cite this article:
Vaidya S, Risbud M, Kshar A, Ramdurg P. Hereditary ectodermal dysplasia: Report of 11 patients from a family.Indian J Dent Res 2013;24:502-506


How to cite this URL:
Vaidya S, Risbud M, Kshar A, Ramdurg P. Hereditary ectodermal dysplasia: Report of 11 patients from a family. Indian J Dent Res [serial online] 2013 [cited 2020 Oct 20 ];24:502-506
Available from: https://www.ijdr.in/text.asp?2013/24/4/502/118373


Full Text

Ectodermal dysplasias (EDs) are a heterogeneous group of disorders characterized by developmental dystrophies of more than one ectodermal structure. These disorders are congenital, diffuse, and non-progressive. Prevalence of the disorder is approximately 1 in 1,00,000 live birth. More than 192 different varieties of these clinical conditions have been recognized. [1]

Freire-Maia and Pinheiro proposed the first classification system of the ectodermal dysplasias in 1982 with additional updates in 1994 and 2001. Their original classification system stratified the ectodermal dysplasias into 10 different subgroups according to the presence or absence of (1) hair anomalies or trichodysplasias, (2) dental abnormalities, (3) nail abnormalities or onychodysplasias, and (4) eccrine gland dysfunction or dyshidrosis. Overall, the ectodermal dysplasias were classified into either group A disorders, which were manifested by defects in at least two of the four classical ectodermal structures as defined above, with or without other defects, and group B disorders, which were manifested by a defect in one classical ectodermal structure (1-4 from above) in combination with (5) a defect in one other ectodermal structure (ie, ears, lips, dermatoglyphics). [2]

From the clinical point of view, two main forms have been distinguished: (1) Hypohidrotic form/Christ-Siemens-Tourian Syndrome that exhibits the classic triad- hypohidrosis, hypotrichosis and hypodontia. Usually X-linked recessive inheritance is seen. Males are affected severely, while females show only minor defects. Felsher in 1944 changed the adjective anhydrotic to hypohydrotic because the persons with hypohydrotic form are not truly devoid of all sweat glands. (2) Hidrotic form/Clouston syndrome in which hair and nails are affected. The sweat glands are usually spared. It is usually inherited as an autosomal dominant trait. [1]

Here we report 11 cases of ectodermal dysplasia belonging from a family.

 Case Report



Two female patients age 35 yrs and 20 yrs, respectively, belonging from the same family visited to our institution with chief complaint of missing teeth. Both patients showed stunted growth of scalp hair, scanty eyelashes and eyebrows, nail growth abnormality, thin dry scaly skin, multiple missing teeth. Heat intolerance was mild. The cephalometric analysis showed decrease in lower facial height and retrusive maxilla compare to mandible. Family history revealed total 11 family members having same problem [Figure 1]. All family members were screened with appropriate questionnaire, the detailed case history, clinical examination, and radiographic examination as these are the important tools to diagnose the ectodermal dysplasia.{Figure 1}

Clinical And Radiographic findings of 11 Ectodermal dysplastic patients are listed in [Table 1].{Table 1} [Figure 2], [Figure 3], [Figure 4] and [Figure 5]. {Figure 2}{Figure 3}{Figure 4}{Figure 5}

 Discussion



Thurnam published the first report of a patient with ectodermal dysplasia in 1848, but the term ectodermal dysplasia was coined by Weech in 1929. In 1875, Charles Darwin documented it amongst a Hindu family, where 10 men in the course of four generations were affected, which was communicated to him by Mr. W. Weddenburn. [3] It is remarkable that very rare instance has occurred of females are more severely and largely affected than males in a family.

The presentation of hypotrichosis, hypohydrosis, hypodontia, and nail dystrophy in these patients is in agreement with existing literature, which confirm the diagnosis of hereditary hypohydrotic ectodermal dysplasia.

Mutations in EDA (ectodysplastin A is a protein), EDAR (ectodysplastin A receptor) and EDARADD (ectodysplastin A receptor associated death domain) genes are now identified to cause Hypohidrotic ectodermal dysplasia. These genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between the two germ layers the ectoderm and mesoderm. In the early embryo these cell layers form the basis for many of the body's organs and tissues. Ectoderm-mesoderm interaction is essential for the formation of several structures that arise from the ectoderm including skin, hair, nails, teeth and sweat glands. Mutation in the EDA, EDAR, or EDARADD gene prevents the normal interaction between ectoderm and mesoderm and impairs the normal development of hair, sweat glands and teeth. The improper formation of these ectodermal structures leads to the characteristic features of Hypohidrotic ectodermal dysplasia. [4]

All these patients reported with decreased body hair. Beard and moustache hair were normal in male patients, while Mild frontal bossing and malar flattening were seen in all relatives is in correlation with Aswegan report. [5] The observation of severe toenail abnormality [Figure 6] was most striking feature in our report is not in accordance with Aswegan, [5] Shaw, [6] and Mortier. [7] In 1974, Jorgenson described the condition comprise additional features of unusual dermatoglyphics, dry eyes, or loose-jointedness [8] which were not seen in these patients. Cracked lips, inflamed oral mucosa and xerostomia, which were reported by Shaw, [6] El- Tony MK, [9] were not observed in these patients. The resemblance among these patients were bigger than when compared with their own unaffected sib, this is due to the characteristic deformity of the cranial bones of all affected patients. [7]{Figure 6}

After careful perusal of literature, we did not found a single case of ectodermal dysplasia with mental retardation, but in this case out of 11 patients, one patient showed signs of mental retardation. This patient was not co-operative for radiographic examination, so we were not able to record her radiographic findings.

In this report, six patients were complete edentulous showed severe resorption of alveolar processes. Resorption was due to prosthesis or disorder, is debatable. Out of these six patients, five patients recorded with permanent complete anodontia and in five partial edentulous patients, maximum four and minimum one permanent tooth was present. In these patients, areas where no teeth had developed, the alveolar bone was resorbed and the bone ridge was very thin in contrast to the normal alveolus surrounding an occasional tooth, which proves the theory that alveolar process fails to develop in absence of teeth. In these five partial edentulous patients two patients showed ideal permanent complete anodontia. So total seven patients showed permanent complete anodontia.

The findings of this family disorder are compared to other hypohidrotic, hypodontic, and hypotrichotic disorders families described by Aswegan 1997, Jorgenson 1974; Jorgenson et al., 1987 in [Table 2].{Table 2}

Like developed countries, it is not possible in developing countries like India to do laboratory identification of genes and mode of inheritance of mutant genes associated with recessively X-chromosome or autosomal dominant or recessive. It may require further probing through genetic analysis. [10]

References

1Ammanagi R, Keluskar V, Bagewadi A. Ectodermal dysplasia: Report and analysis of eleven south Indian patients with review of literature. J Ind Acad Oral Med Rad 2010;22:93-8.
2Shah KN. Ectodermal Dysplasia. eMedicine. Article last updated: Feb 26, 2009.
3Weech AA. Hereditary ectodermal dysplasia. (Congenital ectodermal defect). Am J Dis Child 1929;37:766-90.
4Gaide O. New development in the history of Hypohidrotic ectodermal dysplasia. Dermatology 2003;207:123-4.
5Aswegan AL, Josephson KD, Mowbray R, Pauli RM, Spritz RA, Williams MS. Autosomal dominant hypohydrotic ectodermal dysplasia in a large family. Am J Med Genet 1997;72:462-7.
6Shaw RM. Prosthetic management of hypohidrotic ectodermal dysplasia with anodontia. Case report. Aust Dent J 1990;35:113-6.
7Mortier K, Wackens G. Ectodermal Dysplasia anhidrotic. Orphanet Encyclopedia; 2004.
8Jorgenson RJ. Ectodermal dysplasia with hypotrichosis, hypohidrosis, defective teeth, and unusual dermatoglyphics (Basan syndrome?). New York: Alan R. Liss, Inc., for the National Foundation-March of Dimes; 1974. p. 323-5.
9El-Tony MK, Fetelh RM. Hereditary hypohidrotic ectodermal dysplasia with anodontia: A case report. Saudi Dent J 1994;6:31-4.
10Jorgenson RJ, Dowben JS, Dowben SL. Autosomal dominant ectodermal dysplasia. J Cranio Genet Dev Biol 1987;7:403-12.