Ectodermal Dysplasia Treatment & Management

Updated: Feb 11, 2019
  • Author: Kara N Shah, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Treatment

Medical Care

The care of affected patients depends on which ectodermal structures are involved.

For patients with anhidrosis/hypohidrosis, advise air conditioning for home, school, and work. Encourage frequent consumption of cool liquids to maintain adequate hydration and thermoregulation. Finally, advise patients to wear cool clothing.

For patients with dental defects, advise early dental evaluation and intervention and encourage routine dental hygiene. An international consensus meeting of experts in pediatric dentistry, orthodontics, and prosthodontics has published recommendations for the diagnosis, evaluation, and treatment of patients with ectodermal dysplasia, including use of dental implants. [63, 64] Advise orthodontic treatment for cosmetic reasons and to ensure adequate nutritional intake. [65, 66, 67, 68, 69, 70, 71, 72, 73]

Patients with xerosis or eczematous dermatitis may benefit from the use of topical emollients.

Patients with severe alopecia can wear wigs to improve their appearance. Use of topical minoxidil with or without a topical tretinoin has been shown to improve hair growth in a small number of patients. [74, 75]

Patients with scalp erosions should be treated with topical and systemic antibiotics as needed. General scalp care may involve the use of weekly dilute bleach baths or acetic acid soaks to minimize bacterial colonization of the scalp. Application of special scalp dressings may be helpful. The use of high-potency topical corticosteroids has also been reported to be beneficial in the treatment of scalp erosions associated with Rapp-Hodgkin ectodermal dysplasia. [76]

Use artificial tears to prevent damage to the cornea in patients with reduced lacrimation.

Protect nasal mucosa with saline sprays followed by the application of petrolatum.

Patients with ectodermal dysplasia with immunodeficiency should be monitored for infection and treated with therapeutic and/or prophylactic antibiotics when appropriate.

Allogeneic stem cell transplantation has been performed in a small number of patients with autosomal dominant ectodermal dysplasia with immunodeficiency (EDA-ID); poor engraftment and post-transplant complications were common. [77, 78]

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Surgical Care

Early repair of cleft lip or palate may lessen facial deformities and improve speech. Other midfacial defects or hand/foot deformities may be surgically corrected in order to improve function and reduce physical disfigurement.

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Consultations

Consultation with the following specialists may be necessary:

  • Dermatologists can assist in the diagnosis of ectodermal dysplasia and in the management of patients with chronic eczematous dermatitis or scalp erosions.

  • General dentists or periodontal dentists can provide regular preventative dental care and restorative service as indicated.

  • Plastic surgeons can provide evaluation and management of cleft lip and/or palate defects, other facial defects, and hand and foot defects.

  • Speech and physical or occupational therapists can assist patients with cleft lip and/or palate with feeding and speech difficulties and can provide therapy to assist patients with hand and foot defects.

  • Genetic counselors can provide patients and families with assistance in diagnosis and genetic analysis.

  • Immunologists can help with the evaluation for suspected immunodeficiency.

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Diet

No dietary restrictions are indicated.

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Activity

Instruct patients with hypohidrosis to avoid vigorous physical activities and to maintain adequate hydration. Advise on the importance of light clothing, a cool-water spray bottle, and restriction of overexposure to warm temperatures. Recommend swimming or sedentary sports (eg, archery). Educate parents that antipyretics are not effective in the treatment of hyperpyrexia.

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Prevention

Prenatal intervention for X-linked hypohidrotic ectodermal dysplasia (XLHED) due to EDA mutation has been performed during two pregnancies via intra-amniotic administration of recombinant ectodysplasin; normal sweating was reported in all infants (two twins and a singleton) with no reported manifestations of XLHED noted at age 14 and 22 months. [79]

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