Ectodermal dysplasia is a genetic condition characterized by abnormal development of structures derived from embryonic ectoderm such as hair, teeth, nails and sweat glands. The most common types are hypohidrotic (anhidrotic) and hydrotic ectodermal dysplasia. Symptoms include sparse hair, abnormal nails, missing or malformed teeth, lack of sweat glands and dry skin prone to infection. Treatment focuses on dental care, temperature regulation, artificial tears and infection prevention. The condition is caused by mutations in genes controlling ectodermal development and can be diagnosed through clinical features, imaging and genetic testing.

2. PRESENTED BY:
BHAVANA. B
CRI
GUIDED BY:
Dr. SARASWATHI GOPAL MDS
PROFESSOR & HOD

3. ECTODERMAL D SPLASIAY

4. 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.

5. 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.

6. 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.

7. 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.

8. ECTODERMAL
DYSPLASIA
Abnormal
morphogenesis of
cutaneous or oral
embryonal ectoderm
Reduction in
number of hair
follicles
Hair shaft
abnormalities

9. 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.

10. Ectodermal dysplasia typically affects the four
organs primarily

11. • Scalp and body hair may be thin, sparse, and
light in color.
• Hair may be coarse, excessively brittle, curly
or even twisted.
HAIR

12. 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.

13. • Abnormal tooth development resulting in
missing teeth or growth of teeth that are
peg-shaped or pointed.
• Tooth enamel is also defective.
• Dental treatment is necessary and children
as young as 2 years may need dentures.
TEETH

14. 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.

15. • 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.

16. 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).

18. TREATMENT
•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.

20. 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 Elakkiya
Age/Sex: 9 years/Female

21. 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…

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

24. UPPER & LOWER
IMPRESSIONS
DENTURES

25. Brain damage
caused by
increased body
temperature
Seizures caused by
high fever

26. • 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.

28. • 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.