Ectodermal Dysplasia

Ectodermal dysplasia (ED) is a group of disorders characterized by a variety of findings involving defects of two or more of the following ectodermal-derived structures:

• Teeth
• Skin
• Appendages, which includes hair, nails and sweat glands

This is not a single disorder but a group of syndromes with similar characteristics caused by a genetic defect that affects the development of the aforementioned structures. The genetic defect may be inherited or may be caused by a mutation during conception.

Symptoms range from absence or abnormal hair growth, teeth malformations to severe symptoms like deafness, blindness, and deficiencies of immune defense that make them susceptible to severe infections. Cleft lip and/or palate are some of the facial malformations in some ectodermal dysplasia patients. Limb defects may include ectrodactyly (split hand and foot) and other malformations of some fingers and toes.

One example of an ectodermal dysplasia syndrome is the Clouston Syndrome (Hidrotic Ectodermal Dysplasia). Prominent features of this syndrome include absent nails, sparse hair and dry palms and soles. Patients have normal teeth but some small teeth and numerous cavities may be present. Some affected individuals have absent eyebrows and lashes and darkened (hyperpigmented) skin over the knees and knuckles. Another syndrome under Ectodermal Dysplasia (ED) is the EEC syndrome where the salient features include a split hand and foot (ectrodactyly), ectodermal dysplasia, cleft lip and palate and abnormalities of the tear ducts. The ectodermal dysplasia in this syndrome manifest as dry poorly pigmented skin, sparse hair on the scalp and eyebrows, with absence of eyelashes. In EEC syndrome, the sweating is usually normal.

In general, symptoms may also include features such as photosensitivity, delayed or absence of breast development and respiratory diseases.

Therapy includes supportive care for the special needs of individuals with ectodermal dysplasia (ED). Wigs are provided to improve appearance for those with sparse or absent scalp hair. Dental evaluation should be done early during the childhood years for provision of dentures or prostheses for aesthetic and nutritional purposes. For patients with defective tear ducts, the use of artificial tears prevents damage to the eyes. Those with defective sweating are provided with air conditioned rooms and should be properly protected from exposure to sunlight and hot temperatures.

What is Ectodermal Dysplasia