Ectodermal dysplasia

1. ECTODERMAL DYSPLASIA 2 CASE REPORTS PRESENTED BY: BHAVANA. B CRI GUIDED BY: Dr. SARASWATHI GOPAL MDS PROFESSOR & HOD DEPARTMENT OF ORAL MEDICINE & RADIOLOGY MEENAKSHI AMMAL DENTAL COLLEGE CHENNAI

2. ECTODERMAL D SPLASIA Y

3. The ECTODERM is the outermost layer of cells in embryonic development and contributes to the formation of many parts of the body. Ex: Hair, Nails, Teeth, Sweat glands. DYSPLASIA – Developmental abnormality. Ectodermal dysplasia occurs when the ectoderm of certain areas fails to develop normally.

4. Ectodermal dysplasias (EDs) are a heterogeneous group of disorders characterized by developmental dystrophies of ectodermal structures, such as hypohidrosis, hypotrichosis, onychodysplasia and hypodontia or anodontia. DEFINITION:

5. EPIDEMIOLOGY The incidence in male is estimated at 1 in 100,000 births. The carriers-incidence is probably around 17.3 in 100,000 women.

6. What is the cause of ectodermal dysplasia? Mutation or deletion of certain genes located on different chromosomes. Genetic defect- they may be inherited or passed on down the family line. They can occur in people without a family history of the condition, in which case a de novo mutation has occurred.

7. PATHOPHYSIOLOGY

8. CLASSIFICATION Currently there are about 150 different types of ectodermal dysplasias. (Mortier K, Wackens G. Ectodermal dysplasia anhidrotic. Orphanet Encyclpedia. September 2004.) The 150 different types of ectodermal dysplasias are categorised into one of the following subgroups made up from the primary ED defects. Different subgroups are created according to the presence or absence of the four primary ectodermal dysplasia (ED) defects : ED1 : Trichodysplasia (hair dysplasia) ED2 : Dental dysplasia ED3 : Onychodysplasia (nail dysplasia) ED4 : Dyshidrosis (sweat gland dysplasia) THE MOST COMMON ECTODERMAL DYSPLASIAS ARE HYPOHIDROTIC (ANHIDROTIC) ED AND HYDROTIC ED.

9. CLINICAL FEATURES Ectodermal dysplasia typically affects the four organs primarily

10. NAILS Fingernails and toenails may be thick, abnormally shaped, discolored, ridged, slow growing, or brittle. Sometimes nails may be absent. Cuticles may be prone to infection.

11. SWEAT GLANDS Eccrine sweat glands may be absent or sparse so that sweat glands function abnormally or not at all. Without normal sweat production, the body cannot regulate temperature properly . Children may experience recurrent high fever that may lead to seizures and neurological problems. Overheating is a common problem, particularly in warmer climates.

12. Other signs and symptoms include… Lightly pigmented skin, in some cases red or brown pigment may be present. Skin can be thick over the palms and soles and is prone to cracking, bleeding and infection. Skin may be dry and is prone to rashes and infection. Abnormal ear development may cause hearing problems. Cleft palate/lip. Missing fingers or toes (digits). Respiratory infections due to lack of normal protective secretions of the mouth and nose. Foul smelling nasal discharge from chronic nasal infections. Lack of breast development. Dry eyes occur due to lack of tears. Cataracts and visual defects may also occur.

13. INVESTIGATIONS Radiographs to rule out dental abnormalities. Biopsy of the skin – hypothenar eminence is the most reliable site to demonstrate an absence or hypoplasia of sweat glands. Genetic testing (available for some types of this disorder).

14. Other diagnostic tests… SWEAT PORE COUNT BLASCHKO LINES PRENATAL DIAGNOSIS – FETAL SKIN BIOPSY

15. Early dental evaluation and intervention is essential. Cooling water baths or sprays may be useful in maintaining a normal body temperature. Artificial tears can be used to prevent damage to the cornea. Saline irrigation of the nasal mucosa may help to remove purulent debris and prevent infection. Wigs may be worn to improve the appearance of patients with little or no hair.

16. C A S E R E P O R T S

17. CASE 1 OP.No: 85203 Date: 08.04.2009 Name: Baby Vembarasu Age/Sex: 7 years/Female CASE 2 OP.No: 85202 Date: 08.04.2009 Name: Baby E lakkiya Age/Sex: 9 years/Female

18. Chief complaint : Patient complains of non-eruption of upper and lower front teeth. INTRAORALLY… CASE 1 CASE 2 Chief complaint : Patient complains of small upper and lower front teeth. INTRAORALLY…

19. E D C B C D E E C D E E D C B A 1 e B C D E 6 e E D C B A A B C D E 6 e CASE 1 CASE 2

20. DIAGNOSIS…??? HEREDITARY ECTODERMAL DYSPLASIA

21. TREATMENT

22. If any family history of ectodermal dysplasia and planning to have children - genetic counseling is recommended. In many cases it is possible to diagnose ectodermal dysplasia while the baby is still in the womb. PREVENTION

23. REFERENCES Ramesh K, Vinod D, John B John. Hypohidrotic ectodermal dysplasia diagnostic aids and report of 5 cases. Mortier K, Wackens G. Ectodermal dysplasia anhidrotic. Orphanet Encyclpedia. September 2004. Morelli JG. Ectodermal dysplasias. In Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics . 18th ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 648. Shafer, Hine, Levy. Textbook of oral pathology. 5/ed. Elsevier , 2006. Wikipedia & Ectodermal dysplasia society.

24. Still a long way to go…..

25. Dr. Ambalavanan , Vice Principal Dr. Saraswathi Gopal MDS, Professor & HOD Dr. Koteeswaran MDS , Professor Dr. P. Jayakumar, Principal DEPARTMENT OF ORAL MEDICINE & RADIOLOGY MEENAKSHI AMMAL DENTAL COLLEGE CHENNAI