ectodermal dysplasia

ECTODERMAL DYSPLASIA2 CASE REPORTS

PRESENTED BY:BHAVANA. BCRI

GUIDED BY:Dr. SARASWATHI GOPAL MDSPROFESSOR & HOD

DEPARTMENT OF ORAL MEDICINE & RADIOLOGYMEENAKSHI AMMAL DENTAL COLLEGE

CHENNAI

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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.

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:

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.

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.

PATHOPHYSIOLOGY

ECTODERMAL DYSPLASIA

Abnormal morphogenesis of cutaneous or oral

embryonal ectoderm

Reduction in number of hair folliclesHair shaft

abnormalities

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.

CLINICAL FEATURESEctodermal dysplasia typically affects the four organs primarily

HAIR• Scalp and body hair may be thin,

sparse, and light in color. • Hair may be coarse, excessively

brittle, curly or even twisted.

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.

TEETH

• 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.

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.

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.

INVESTIGATIONSRadiographs 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).

Other diagnostic tests…

SWEAT PORE COUNT

BLASCHKO LINES

PRENATAL DIAGNOSIS – FETAL SKIN BIOPSY

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.

CASEREPORTS

CASE 1

OP.No: 85203 Date: 08.04.2009Name: Baby VembarasuAge/Sex: 7 years/Female

CASE 2

OP.No: 85202 Date: 08.04.2009Name: Baby ElakkiyaAge/Sex: 9 years/Female

Chief complaint: Patient complains of non-eruption of upper and lower front teeth.

INTRAORALLY…

CASE 1 CASE 2Chief complaint: Patient complains of small upper and lower front teeth.

INTRAORALLY…

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

DIAGNOSIS…???

HEREDITARY ECTODERMAL DYSPLASIA

TREATMENT

UPPER & LOWER IMPRESSIONS

DENTURES

POSSIBLE COMPLICATIONS

Brain damage caused by increased body

temperature

Seizures caused by high fever

• 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

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.

Still a long way to go…..

Dr. Ambalavanan, Vice PrincipalDr. Saraswathi Gopal MDS, Professor & HOD Dr. Koteeswaran MDS, Professor

Dr. P. Jayakumar, Principal

DEPARTMENT OF ORAL MEDICINE & RADIOLOGYMEENAKSHI AMMAL DENTAL COLLEGE

CHENNAI