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Ectodermal Dysplasia Follow-up

  • Author: Kara N Shah, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
Updated: Feb 24, 2016


Note the following possible complications:

  • Patients with severe dental abnormalities or cleft lip and/or palate may develop feeding difficulties, which may result in malnutrition and failure to thrive.
  • Patients affected by anodontia may show shrinkage of the bone supporting the denture after long-term denture use.
  • Patients with anhidrosis/hypohidrosis are prone to hyperpyrexia and heat exhaustion.
  • Patients with chronic scalp dermatitis and erosions often develop recurrent bacterial and fungal skin infections.
  • Patients with abnormal mucous gland function may develop secondary infections, especially in the upper respiratory tract.
  • Patients with immunodeficiency are at risk for recurrent viral, bacterial, and fungal infections.


The prognosis for most patients with ectodermal dysplasia is very good. Morbidity and mortality is related to the absence or dysfunction of eccrine and mucous glands. Beyond early childhood, life expectancy ranges from normal to slightly reduced.

If hypohidrosis is recognized in the neonatal period and managed appropriately, no evidence indicates that the life span for a person diagnosed with one of the common types of ectodermal dysplasia is shorter than average. Intermittent hyperpyrexia may occur in infants with decreased sweating. The mortality rate approaches 30%. Recurrent high fever may also lead to seizures and neurological sequelae.

Pharyngitis, rhinitis, cheilitis, and dysphagia may result from reduced numbers of functional mucous glands in the respiratory and gastrointestinal tracts.

Growth failure is common.[17]

Severe inflammatory scalp dermatitis with erosions may result in frequent infections and cause scarring alopecia in patients with AEC (Hay-Wells) syndrome and Rapp-Hodgkin syndrome.

Life span can be affected in some rare types of ectodermal dysplasia. For example, patients with ectodermal dysplasia with immunodeficiency are at risk for significant morbidity and mortality related to recurrent infections and failure to thrive.


Patient Education

Provide early guidance about temperature regulation, acceptable activities, and the risk of hyperpyrexia from febrile illnesses. Inform patients and families that antipyretics are not effective in treating hyperpyrexia associated with hypohidrosis. Instruct caregivers on proper skin care and monitoring for signs of infection in patients with chronic scalp dermatitis and erosions.

Additional information and support for families is available through the National Foundation for Ectodermal Dysplasias.

Contributor Information and Disclosures

Kara N Shah, MD, PhD Associate Professor, Departments of Pediatrics and Dermatology, University of Cincinnati College of Medicine; Medical Director, Pediatric Dermatology, Cincinnati Children's Hospital

Kara N Shah, MD, PhD is a member of the following medical societies: American Academy of Dermatology, American Academy of Pediatrics, Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Michael J Wells, MD, FAAD Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD, FAAD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Texas Medical Association

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

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

Disclosure: Nothing to disclose.


The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous Chief Editor, William D. James, MD, and previous author, Carola Duran-McKinster, MD, to the development and writing of this article.

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

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

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

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

  5. Visinoni AF, Lisboa-Costa T, Pagnan NA, Chautard-Freire-Maia EA. Ectodermal dysplasias: clinical and molecular review. Am J Med Genet A. 2009 Sep. 149A(9):1980-2002. [Medline].

  6. Pagnan NA, Visinoni ÁF. Update on ectodermal dysplasias clinical classification. Am J Med Genet A. 2014 Oct. 164A (10):2415-23. [Medline].

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

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

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

  10. Okamura E, Suda N, Baba Y, Fukuoka H, Ogawa T, Ohkuma M, et al. Dental and maxillofacial characteristics in six Japanese individuals with ectrodactyly-ectodermal dysplasia-clefting (EEC)syndrome. Cleft Palate Craniofac J. 2012 Jan 11. [Medline].

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

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

  13. 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. 2008 Dec. 87(12):1089-99. [Medline].

  14. Priolo M. Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms. Am J Med Genet A. 2009 Sep. 149A(9):2003-13. [Medline].

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

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

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

  18. Dietz J, Kaercher T, Schneider AT, Zimmermann T, Huttner K, Johnson R, et al. Early respiratory and ocular involvement in X-linked hypohidrotic ectodermal dysplasia. Eur J Pediatr. 2013 Aug. 172(8):1023-31. [Medline].

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

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

  21. Callea M, Teggi R, Yavuz I, Tadini G, Priolo M, Crovella S, et al. Ear nose throat manifestations in hypoidrotic ectodermal dysplasia. Int J Pediatr Otorhinolaryngol. 2013 Nov. 77(11):1801-4. [Medline].

  22. Bergendal B. Orodental manifestations in ectodermal dysplasia-a review. Am J Med Genet A. 2014 Oct. 164A (10):2465-71. [Medline].

  23. Fete M, Hermann J, Behrens J, Huttner KM. X-linked hypohidrotic ectodermal dysplasia (XLHED): clinical and diagnostic insights from an international patient registry. Am J Med Genet A. 2014 Oct. 164A (10):2437-42. [Medline].

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

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

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

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

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

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

  30. Giampietro PF, Baker MW, Basehore MJ, Jones JR, Seroogy CM. Novel mutation in TP63 associated with ectrodactyly ectodermal dysplasia and clefting syndrome and T cell lymphopenia. Am J Med Genet A. 2013 Jun. 161A(6):1432-5. [Medline].

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

  32. 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. 1996 Aug. 13(4):409-16. [Medline].

  33. 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. 1998 Aug. 63(2):380-9. [Medline].

  34. Jones KB, Goodwin AF, Landan M, Seidel K, Tran DK, Hogue J, et al. Characterization of X-linked hypohidrotic ectodermal dysplasia (XL-HED) hair and sweat gland phenotypes using phototrichogram analysis and live confocal imaging. Am J Med Genet A. 2013 Jul. 161A(7):1585-93. [Medline].

  35. 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. 1999 Aug. 22(4):366-9. [Medline].

  36. Wisniewski SA, Trzeciak WH. A rare heterozygous TRAF6 variant is associated with hypohidrotic ectodermal dysplasia. Br J Dermatol. 2012 Jun. 166(6):1353-6. [Medline].

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

  38. 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. 2003 Oct. 112(7):1108-15. [Medline].

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

  40. 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. 2000 Dec. 67(6):1555-62. [Medline].

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

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

  43. 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. 2002 May. 70(5):1341-8. [Medline]. [Full Text].

  44. 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. 2000 Aug. 25(4):427-30. [Medline].

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

  46. 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. 2007 Jul. 39(7):836-8. [Medline].

  47. 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. 2006 Oct. 79(4):724-30. [Medline].

  48. Shah S, Boen M, Kenner-Bell B, Schwartz M, Rademaker A, Paller AS. Pachyonychia congenita in pediatric patients: natural history, features, and impact. JAMA Dermatol. 2014 Feb. 150 (2):146-53. [Medline].

  49. Wilson NJ, O'Toole EA, Milstone LM, Hansen CD, Shepherd AA, Al-Asadi E, et al. The molecular genetic analysis of the expanding pachyonychia congenita case collection. Br J Dermatol. 2014 Aug. 171 (2):343-55. [Medline].

  50. McLean WH, Hansen CD, Eliason MJ, Smith FJ. The phenotypic and molecular genetic features of pachyonychia congenita. J Invest Dermatol. 2011 May. 131 (5):1015-7. [Medline].

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

  52. 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. 2000 Mar. 24(3):283-6. [Medline].

  53. 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. 2003 Mar. 72(3):728-32. [Medline].

  54. Ali RH, Habib R, Ud-Din N, Khan MN, Ansar M, Ahmad W. Novel mutations in the gene HOXC13 underlying pure hair and nail ectodermal dysplasia in consanguineous families. Br J Dermatol. 2013 Aug. 169(2):478-80. [Medline].

  55. Naeem M, Wajid M, Lee K, Leal SM, Ahmad W. A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type. J Med Genet. 2006 Mar. 43(3):274-9. [Medline]. [Full Text].

  56. Shimomura Y, Wajid M, Kurban M, Sato N, Christiano AM. Mutations in the keratin 85 (KRT85/hHb5) gene underlie pure hair and nail ectodermal dysplasia. J Invest Dermatol. 2010 Mar. 130(3):892-5. [Medline].

  57. Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, et al. Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature. 2000 May 25. 405(6785):466-72. [Medline].

  58. Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, et al. WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. Am J Hum Genet. 2009 Jul. 85(1):97-105. [Medline]. [Full Text].

  59. Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, et al. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J Hum Genet. 2007 Oct. 81(4):821-8. [Medline]. [Full Text].

  60. Mues G, Bonds J, Xiang L, Vieira AR, Seymen F, Klein O, et al. The WNT10A gene in ectodermal dysplasias and selective tooth agenesis. Am J Med Genet A. 2014 Oct. 164A (10):2455-60. [Medline].

  61. Tziotzios C, Petrof G, Liu L, Verma A, Wedgeworth EK, Mellerio JE, et al. Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome. Br J Dermatol. 2014 Nov. 171 (5):1211-4. [Medline].

  62. Klineberg I, Cameron A, Hobkirk J, Bergendal B, Maniere MC, King N, et al. Rehabilitation of children with ectodermal dysplasia. Part 2: an international consensus meeting. Int J Oral Maxillofac Implants. 2013 Jul-Aug. 28(4):1101-9. [Medline].

  63. Klineberg I, Cameron A, Whittle T, Hobkirk J, Bergendal B, Maniere MC, et al. Rehabilitation of children with ectodermal dysplasia. Part 1: an international Delphi study. Int J Oral Maxillofac Implants. 2013 Jul-Aug. 28(4):1090-100. [Medline].

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

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

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

  67. 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. 2008 Jun. 66(6):1241-4. [Medline].

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

  69. Al-Ibrahim HA, Al-Hadlaq SM, Abduljabbar TS, Al-Hamdan KS, Abdin HA. Surgical and implant-supported fixed prosthetic treatment of a patient with ectodermal dysplasia: a case report. Spec Care Dentist. 2012 Jan. 32(1):1-5. [Medline].

  70. El Osta Chaiban R, Chaiban W. Ectodermal dysplasia: dental management and benefits, a case report. Eur J Paediatr Dent. 2011 Dec. 12(4):282-4. [Medline].

  71. Aydinbelge M, Gumus HO, Sekerci AE, Demetoglu U, Etoz OA. Implants in children with hypohidrotic ectodermal dysplasia: an alternative approach to esthetic management: case report and review of the literature. Pediatr Dent. 2013 Sep-Oct. 35(5):441-6. [Medline].

  72. Dhima M, Salinas TJ, Cofer SA, Rieck KL. Rehabilitation of medically complex ectodermal dysplasia with novel surgical and prosthodontic protocols. Int J Oral Maxillofac Surg. 2013 Sep 12. [Medline].

  73. Lee HE, Chang IK, Im M, Seo YJ, Lee JH, Lee Y. Topical minoxidil treatment for congenital alopecia in hypohidrotic ectodermal dysplasia. J Am Acad Dermatol. 2013 Apr. 68(4):e139-40. [Medline].

  74. Melkote S, Dhurat RS, Palav A, Jerajani HR. Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin. Int J Dermatol. 2009 Feb. 48(2):184-5. [Medline].

  75. 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. 2006 Jul. 118(1):e205-11. [Medline].

  76. 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. 2008 Sep 15. [Medline].

A newborn boy with anhidrotic/hypohidrotic ectodermal dysplasia syndrome showing generalized fine scaling and a history of intermittent fever.
Wrinkled, hyperpigmented skin around the eyes and everted lips are typical characteristics of anhidrotic/hypohidrotic ectodermal dysplasia syndrome.
Typical cleft lip/palate and maxillary hyperplasia in a patient with Rapp-Hodgkin syndrome.
Abnormal hair shaft showing pili torti and a longitudinal groove (pili canaliculi) from a patient with Rapp-Hodgkin syndrome.
Hands of father and son with Rapp-Hodgkin syndrome. Nails have the same characteristics; they are brittle, thin, and dystrophic.
Ectodermal dysplasia, ectrodactyly, and clefting syndrome. Light-colored hair and scalp and earlobe defects are observed. Cleft lip and palate results in a characteristic nasal contour.
Ectrodactyly observed in an individual with ectodermal dysplasia, ectrodactyly, and clefting syndrome.
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