Ectodermal Dysplasia and Treatment of children With Ectodermal Dysplasia

The ectodermal dysplasias (EDs) comprise a large, heterogeneous group of inherited disorders that are defined by primary defects in the development of 2 or more tissues derived from embryonic ectoderm. The tissues primarily involved are the skin, hair, nails, eccrine glands, and teeth. Although Thurnam published the first report of a patient with ectodermal dysplasia in 1848, the term ectodermal dysplasia was not coined until 1929 by Weech.

The word “dysplasia” refers to abnormal organization of cells in the organs of the body. Any organ of the body may be dysplastic (affected by a dysplasia), when the dysplasia involves an organ derived from the ectoderm, it is proper to say the end result is an ectodermal dysplasia (ED) without further qualification.

The ectodermal dysplasias are congenital, diffuse, and nonprogressive. To date, more than 192 distinct disorders have been described. The most common ectodermal dysplasias are X-linked recessive hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome), as shown in the image below, and hidrotic ectodermal dysplasia (Clouston syndrome).

Michael Berryman-Actor who was born with Ectodermal Dysplasia

Chronology of the Identification of Ectodermal Dysplasia as a Specific Syndrome

• (1000) Dassent (1861): Treatise entitled “Life in Iceland at the End of the 10th Century.” Refers to Burnt Njal, nicknamed the “Beardless Carle” and his three sons Skarpheden, Grim and Helgi, being taunted for their want of a beard..

• 1792 Danz: Treatise entitled “Concerning Men without Teeth.” “In our neighborhood lives a Jewish family of which two adult sons, neither have, or ever have had, hair or teeth.”
• 1838 Wedderburn: Reference to “a Hindu family in Scinde in which 10 males in the course of four generations were furnished, in both jaws taken together, with only four small and weak incisor teeth, and eight posterior molars. The men thus effected have very little hair on the body. The also suffer much during hot weather from excessive dryness of the skin.”
• 1883 Guilford: Dental Cosmos reported a case in which illustrations were used for the first time (Pen and ink sketches)
• 1920 Gockerman: Archives of Dermatology and Syphalus. First to use the term “Congenital Ectodermal Dysplasia.”

The first illustration of Ectodermal Dysplasia - Dental Cosmos, 1883

Symptoms of Ectodermal Dysplasia

• Absence of sweting or decreased sweating because of a lack of sweat glands.
• Children with the disease may have difficulty controlling fevers. Mild illness may manifest as extremely high fevers, because the skin cannot sweat and do temperature regulation properly.
• Affected adults are unable to tolerate a warm environment and need special measures to keep a normal body temperature. 

Other symptoms include:

• Abnormal nails
• Abnormal or missing teeth
• Absent or decreased tears
• Decreased skin color (pigment)
• Heat intolerance
• Inability to sweat
• Large forehead
• Lower than normal number of teeth
• Low nasal bridge
• Poor hearing
• Poor temperature regulation
• Poor vision
• Thin, sparse hair
• Thin skin
• Signs and Investigations
• Investigations of Ectodermal Dysplasia
• Biopsy of the mucus membranes
• Biopsy of the skin
• Genetic testing (available for some types of this disorder)

Types of Ectodermal Dysplasia

• Anhydrotic- Absence of Sweat Glands
• Hypohydrotic-Reduced Sweat Glands
• Hydrotic-Normal Sweat Glands

Teeth in Ectodermal Dysplasia

• Hypodontia-Absence of a few teeth
• Oligodontia-Absence of many teeth
• Anodontia-Absence of all teeth

Typical morphology of teeth with Ectodermal Dysplasia

Distribution of Teeth in Hypohydrotic Ectodermal Dysplasia

	Teeth	Cases
01	Edentulous	23%
02	More teeth in maxilla than in mandible	64%
03	More teeth in mandible than in maxilla	5%
04	Same number of teeth in each arch	8%

Position of Teeth in Hypohydrotic Ectodermal Dysplasia

	Teeth	Cases
01	Edentulous	23%
02	Posterior teeth only	3%
03	Anterior teeth only	31%
04	Some anterior and some posterior teeth	43%

Cephalometic Studies in Hypohydrotic Ectodermal Dysplasia

1. Growth of basal bone-Normal

2. Development of face and jaws-Normal

3. Alveolar bone-Less than Normal

4. Nasal to facial height ratio-Greater than normal

Treatment Objectives in Ectodermal Dysplasia-Early Considerations

• Early initiation of treatment

• Psychological assistance

• Esthetic improvement of the dentition

• Creation of a good dental patient

• Institution of preventive program

Treatment Objectives in Ectodermal Dysplasia-Long-term Considerations

• Maintenance of oral health

• Maintenance of vertical dimension

• Maintenance of alveolar bone

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