eMedicine Specialties > Dermatology > Pediatric Diseases

Ectodermal Dysplasia: Treatment & Medication

Author: Kara N Shah, MD, PhD, Assistant Professor, Department of Pediatrics and Dermatology, University of Pennsylvania School of Medicine; Attending Physician, Section of Dermatology, Division of General Pediatrics, Children's Hospital of Philadelphia
Contributor Information and Disclosures

Updated: Feb 26, 2009

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. Dentures may be indicated as early as age 2 years. Multiple replacements may be needed as the child grows, and dental implants may eventually be required.44,45,46,47,48 Advise orthodontic treatment for cosmetic reasons and to ensure adequate nutritional intake.
  • 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.
  • 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.
  • 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.49,50

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.

Consultations

  • 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.

Diet

  • No dietary restrictions are indicated.

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.

Medication

At this time, no pharmacological treatment is available.

More on Ectodermal Dysplasia

Overview: Ectodermal Dysplasia
Differential Diagnoses & Workup: Ectodermal Dysplasia
Treatment & Medication: Ectodermal Dysplasia
Follow-up: Ectodermal Dysplasia
Multimedia: Ectodermal Dysplasia
References
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References

  1. Thurnam J. Two cases in which the skin, hair and teeth were very imperfectly developed. Proc RM Chir Soc. 1848;31:71-82.

  2. Weech AA. Hereditary ectodermal dysplasia (congenital ectodermal defect). Am J Dis Child. 1929;37:766-90.

  3. Pinheiro M, Freire-Maia N. The ectodermal dysplasias. Arch Dermatol. Apr 1982;118(4):215-6. [Medline].

  4. Pinheiro M, Freire-Maia N. Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet. Nov 1 1994;53(2):153-62. [Medline].

  5. Freire-Maia N, Lisboa-Costa T, Pagnan NA. Ectodermal dysplasias: how many?. Am J Med Genet. Nov 15 2001;104(1):84. [Medline].

  6. Lamartine J. Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol. Jul 2003;28(4):351-5. [Medline].

  7. Priolo M, Lagana C. Ectodermal dysplasias: a new clinical-genetic classification. J Med Genet. Sep 2001;38(9):579-85. [Medline].

  8. Itin PH, Fistarol SK. Ectodermal dysplasias. Am J Med Genet C Semin Med Genet. Nov 15 2004;131C(1):45-51. [Medline].

  9. Rouse C, Siegfried E, Breer W, Nahass G. Hair and sweat glands in families with hypohidrotic ectodermal dysplasia: further characterization. Arch Dermatol. Jul 2004;140(7):850-5. [Medline].

  10. Berg D, Weingold DH, Abson KG, Olsen EA. Sweating in ectodermal dysplasia syndromes. A review. Arch Dermatol. Aug 1990;126(8):1075-9. [Medline].

  11. Clauss F, Maniere MC, Obry F, et al. Dento-craniofacial phenotypes and underlying molecular mechanisms in hypohidrotic ectodermal dysplasia (HED): a review. J Dent Res. Dec 2008;87(12):1089-99. [Medline].

  12. Motil KJ, Fete TJ, Fraley JK, et al. Growth characteristics of children with ectodermal dysplasia syndromes. Pediatrics. Aug 2005;116(2):e229-34. [Medline].

  13. Kaercher T. Ocular symptoms and signs in patients with ectodermal dysplasia syndromes. Graefes Arch Clin Exp Ophthalmol. Jun 2004;242(6):495-500. [Medline].

  14. Nordgarden H, Storhaug K, Lyngstadaas SP, Jensen JL. Salivary gland function in persons with ectodermal dysplasias. Eur J Oral Sci. Oct 2003;111(5):371-6. [Medline].

  15. Daniel E, McCurdy EA, Shashi V, McGuirt WF Jr. Ectodermal dysplasia: otolaryngologic manifestations and management. Laryngoscope. Jun 2002;112(6):962-7. [Medline].

  16. Mehta U, Brunworth J, Lewis RA, Sindwani R. Rhinologic manifestations of ectodermal dysplasia. Am J Rhinol. Jan-Feb 2007;21(1):55-8. [Medline].

  17. Clouston HR. A hereditary ectodermal dystrophy. Can Med Assoc J. 1929;21:18-31.

  18. Pierard GE, Van Neste D, Letot B. Hidrotic ectodermal dysplasia. Dermatologica. 1979;158(3):168-74. [Medline].

  19. Reynold JM, Gold MB, Scriver CR. The characterization of hereditary abnormalities of keratin: Clouston's ectodermal dysplasia. Birth Defects Orig Artic Ser. Jun 1971;7(8):91-5. [Medline].

  20. Hay RJ, Wells RS. The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition. Br J Dermatol. Mar 1976;94(3):277-89. [Medline].

  21. Fosko SW, Stenn KS, Bolognia JL. Ectodermal dysplasias associated with clefting: significance of scalp dermatitis. J Am Acad Dermatol. Aug 1992;27(2 Pt 1):249-56. [Medline].

  22. Roelfsema NM, Cobben JM. The EEC syndrome: a literature study. Clin Dysmorphol. Apr 1996;5(2):115-27. [Medline].

  23. Felding IB, Bjorklund LJ. Rapp-Hodgkin ectodermal dysplasia. Pediatr Dermatol. Jun 1990;7(2):126-31. [Medline].

  24. Smith FJ, Jonkman MF, van Goor H, et al. A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet. Jul 1998;7(7):1143-8. [Medline].

  25. McLean WH, Rugg EL, Lunny DP, et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet. Mar 1995;9(3):273-8. [Medline].

  26. Bowden PE, Haley JL, Kansky A, Rothnagel JA, Jones DO, Turner RJ. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet. Jul 1995;10(3):363-5. [Medline].

  27. Kere J, Srivastava AK, Montonen O, et al. X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet. Aug 1996;13(4):409-16. [Medline].

  28. Monreal AW, Zonana J, Ferguson B. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations [published erratum appears in Am J Hum Genet 1998 Oct;63(4):1253-5]. Am J Hum Genet. Aug 1998;63(2):380-9. [Medline].

  29. Monreal AW, Ferguson BM, Headon DJ, Street SL, Overbeek PA, Zonana J. Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. Nat Genet. Aug 1999;22(4):366-9. [Medline].

  30. Lamartine J, Munhoz Essenfelder G, Kibar Z, et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet. Oct 2000;26(2):142-4. [Medline].

  31. Courtois G, Smahi A, Reichenbach J, et al. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest. Oct 2003;112(7):1108-15. [Medline].

  32. Doffinger R, Smahi A, Bessia C, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet. Mar 2001;27(3):277-85. [Medline].

  33. Zonana J, Elder ME, Schneider LC, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet. Dec 2000;67(6):1555-62. [Medline].

  34. Rinne T, Brunner HG, van Bokhoven H. p63-associated disorders. Cell Cycle. Feb 1 2007;6(3):262-8. [Medline].

  35. Rinne T, Hamel B, van Bokhoven H, Brunner HG. Pattern of p63 mutations and their phenotypes--update. Am J Med Genet A. Jul 1 2006;140(13):1396-406. [Medline].

  36. Richard G, Rouan F, Willoughby CE, et al. Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome. Am J Hum Genet. May 2002;70(5):1341-8. [Medline].

  37. Suzuki K, Hu D, Bustos T, et al. Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet. Aug 2000;25(4):427-30. [Medline].

  38. McGrath JA, McMillan JR, Shemanko CS, et al. Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome. Nat Genet. Oct 1997;17(2):240-4. [Medline].

  39. Wang X, Reid Sutton V, Omar Peraza-Llanes J, et al. Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia. Nat Genet. Jul 2007;39(7):836-8. [Medline].

  40. Lugassy J, Itin P, Ishida-Yamamoto A, et al. Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14. Am J Hum Genet. Oct 2006;79(4):724-30. [Medline].

  41. Galdzicka M, Patnala S, Hirshman MG, et al. A new gene, EVC2, is mutated in Ellis-van Creveld syndrome. Mol Genet Metab. Dec 2002;77(4):291-5. [Medline].

  42. Ruiz-Perez VL, Ide SE, Strom TM, et al. Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet. Mar 2000;24(3):283-6. [Medline].

  43. Ruiz-Perez VL, Tompson SW, Blair HJ, et al. Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome. Am J Hum Genet. Mar 2003;72(3):728-32. [Medline].

  44. Hickey AJ, Vergo TJ. Prosthetic treatments for patients with ectodermal dysplasia. J Prosthet Dent. Oct 2001;86(4):364-8. [Medline].

  45. Imirzalioglu P, Uckan S, Haydar SG. Surgical and prosthodontic treatment alternatives for children and adolescents with ectodermal dysplasia: a clinical report. J Prosthet Dent. Dec 2002;88(6):569-72. [Medline].

  46. Dhanrajani PJ, Jiffry AO. Management of ectodermal dysplasia: a literature review. Dent Update. Mar 1998;25(2):73-5. [Medline].

  47. Lypka M, Yarmand D, Burstein J, Tso V, Yamashita DD. Dental implant reconstruction in a patient with ectodermal dysplasia using multiple bone grafting techniques. J Oral Maxillofac Surg. Jun 2008;66(6):1241-4. [Medline].

  48. Tarjan I, Gabris K, Rozsa N. Early prosthetic treatment of patients with ectodermal dysplasia: a clinical report. J Prosthet Dent. May 2005;93(5):419-24. [Medline].

  49. Dupuis-Girod S, Cancrini C, Le Deist F, et al. Successful allogeneic hemopoietic stem cell transplantation in a child who had anhidrotic ectodermal dysplasia with immunodeficiency. Pediatrics. Jul 2006;118(1):e205-11. [Medline].

  50. Fish JD, Duerst RE, Gelfand EW, Orange JS, Bunin N. Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency. Bone Marrow Transplant. Sep 15 2008;[Medline].

  51. Celli J, Duijf P, Hamel BC, et al. Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. Cell. Oct 15 1999;99(2):143-53. [Medline].

  52. Freire-Maia N. Ectodermal dysplasias. Hum Hered. 1971;21(4):309-12. [Medline].

  53. Happle R, Frosch PJ. Manifestation of the lines of Blaschko in women heterozygous for X- linked hypohidrotic ectodermal dysplasia. Clin Genet. May 1985;27(5):468-71. [Medline].

  54. McGrath JA, Duijf PH, Doetsch V, et al. Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet. Feb 1 2001;10(3):221-9. [Medline].

  55. Orange JS, Jain A, Ballas ZK, Schneider LC, Geha RS, Bonilla FA. The presentation and natural history of immunodeficiency caused by nuclear factor kappaB essential modulator mutation. J Allergy Clin Immunol. Apr 2004;113(4):725-33. [Medline].

  56. Priolo M, Silengo M, Lerone M, Ravazzolo R. Ectodermal dysplasias: not only 'skin' deep. Clin Genet. Dec 2000;58(6):415-30. [Medline].

  57. Rogers M. The "bar code phenomenon": a microscopic artifact seen in patients with hypohidrotic ectodermal dysplasia [letter]. Pediatr Dermatol. Jul-Aug 2000;17(4):329-30. [Medline].

  58. Shin JJ, Hartnick CJ. Otologic manifestations of ectodermal dysplasia. Arch Otolaryngol Head Neck Surg. Sep 2004;130(9):1104-7. [Medline].

  59. Solomon LM, Keuer EJ. The ectodermal dysplasias. Problems of classification and some newer syndromes. Arch Dermatol. Nov 1980;116(11):1295-9. [Medline].

  60. Taieb A. X-linked hypohidrotic ectodermal dysplasia in the new born: a diagnostic challenge. Eur J Pediatr Dermatol. 1998;8:201-4.

  61. Wilsch L, Haneke E, Schaidt G. Letters:Structural hair abnormalities in hidrotic ectodermal dysplasia (HED). Arch Dermatol Res. Jul 21 1977;259(1):101-3. [Medline].

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Further Reading

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Keywords

ectodermal dysplasia, hypohidrotic ectodermal dysplasia, hidrotic ectodermal dysplasia, anhidrotic ectodermal dysplasia, EEC syndrome, AEC syndrome, Rapp-Hodgkin syndrome, Hay-Wells syndrome, Christ-Siemens-Touraine syndrome, Clouston syndrome, Clouston's syndrome, acro-dermato-ungual-lacrimal-tooth syndrome, ADULT syndrome, nail abnormalities, teeth abnormalities, hair anomalies, trichodysplasia, dental abnormalities, onychodysplasia, eccrine gland dysfunction, dyshidrosis

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Contributor Information and Disclosures

Author

Kara N Shah, MD, PhD, Assistant Professor, Department of Pediatrics and Dermatology, University of Pennsylvania School of Medicine; Attending Physician, Section of Dermatology, Division of General Pediatrics, Children's Hospital of Philadelphia
Kara N Shah, MD, PhD is a member of the following medical societies: American Academy of Dermatology, American Academy of Pediatrics, and Society for Pediatric Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Jean Paul Ortonne, MD, Chair, Department of Dermatology, Professor, Hospital L'Archet, Nice University, France
Jean Paul Ortonne, MD is a member of the following medical societies: American Academy of Dermatology and American Dermatological Association
Disclosure: Nothing to disclose.

Pharmacy Editor

Michael J Wells, MD, Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center
Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Van Perry, MD, Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas Health Science Center
Van Perry, MD is a member of the following medical societies: American Academy of Dermatology and American Society for Laser Medicine and Surgery
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System
William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology
Disclosure: elsevier Royalty Other; american college of physicians Honoraria Other

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