Ectodermal Dysplasia Clinical Presentation

  • Author: Kara N Shah, MD, PhD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Jan 24, 2012
 

History

Individuals affected by ectodermal dysplasia have abnormalities in different ectodermal structures. Some ectodermal dysplasia types are mild, while others are devastating. Obvious manifestations of the disorders are not clinically apparent in most newborns. Dental, hair, and nail anomalies usually become evident during infancy or childhood. A family history of similar clinical features is helpful.

Other signs and symptoms are as follows:

  • Hyperthermia with fever and seizures
  • Xerophthalmia (decreased tears) and conjunctivitis[14]
  • Deficient hearing or vision
  • Xerostomia (decreased saliva)[15] and frequent dental caries
  • Developmental delay or mental retardation
  • Dysphagia
  • Growth failure[13]
  • Frequent pharyngitis, otitis, and rhinitis[16, 17]
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Physical

Clinical appearance depends on the specific anomalies associated with each disorder. General features may include the following:

  • Dry, hypopigmented skin is a feature. A chronic eczematous dermatitis may be present.
  • Sweating may be absent or reduced.
  • Sparse, fair, brittle hair with alopecia is a feature, as are absent or diminished body hair and sparse or absent eyebrows and eyelashes.
  • Nail dystrophy is a feature.
  • Dental features may include hypodontia or anodontia; malformed, rudimentary, or pegged teeth; and/or enamel defects and frequent dental caries.
  • Diminished lacrimation and salivation are reported.
  • Dysmorphic facies is a feature.

Following are several of the well-defined ectodermal dysplasias.

X-linked hypohidrotic ectodermal dysplasia (EDA or Christ-Siemens-Touraine syndrome)

X-linked hypohidrotic ectodermal dysplasia (EDA or Christ-Siemens-Touraine syndrome) is the most common ectodermal dysplasia. Female carriers may display a blaschkoid distribution of hypohidrosis as a result of lyonization and somatic mosaicism for the abnormal X chromosome. Autosomal recessive and autosomal dominant forms of hypohidrotic ectodermal dysplasia have been reported but are rare. Intelligence is normal.

The typical facies, which is often not recognized until infancy, is characterized by frontal bossing; sunken cheeks; saddle nose; thick, everted lips; wrinkled, hyperpigmented periorbital skin; and large, low-set ears. See the image below.

Wrinkled, hyperpigmented skin around the eyes and Wrinkled, hyperpigmented skin around the eyes and everted lips are typical characteristics of anhidrotic/hypohidrotic ectodermal dysplasia syndrome.

Dental manifestations include conical or pegged teeth, hypodontia or complete anodontia, and delayed eruption of permanent teeth.

Most patients have fine, sparse, lusterless, fair hair; therefore, little pigmentation in the hair shaft is observed microscopically and the medulla is often discontinuous. When medullation is present, a "bar code" appearance is often seen.

Onychodystrophy may occur but is not common. Extensive scaling of the skin and unexplained pyrexia secondary to anhidrosis may occur in the neonatal period. The development of a chronic eczematous dermatitis is common. Other common signs are short stature, eye abnormalities, decreased tearing, and photophobia.

Hidrotic ectodermal dysplasia (Clouston syndrome)

Hidrotic ectodermal dysplasia (Clouston syndrome) is inherited in an autosomal dominant manner; the homozygous state may be lethal. It is more common in persons of French-Canadian ancestry.[18, 19, 20]

Scalp hair is very sparse, fine, and brittle and alopecia is common. Eyebrows are thinned or absent. Nail dystrophy is common. Persistent paronychial infections are frequent. Polydactyly, syndactyly, and bulbous fingertips may be present. Patients have normal facies, no specific dental defects, and normal sweating. Other reported findings include reticulate hyperpigmentation of the knees, elbows, and fingers; palmoplantar keratoderma; and eccrine poromatosis.

AEC (Hay-Wells) syndrome

AEC (Hay-Wells) syndrome is inherited as an autosomal dominant trait of variable expressivity.[21] Scaling and erythema may be present at birth. The characteristic facies is due to ankyloblepharon (congenital adhesion of the upper and lower eyelid margins by fibrous bands); a broad nasal bridge; and a sunken, hypoplastic maxilla. Cleft palate is common; cleft lip is rare.

A recalcitrant, crusted, inflammatory scalp dermatitis may cause scarring alopecia.[22] Chronic blepharitis and conjunctivitis may develop. Nails are absent or dystrophic; pegged teeth are common. Mild hypohidrosis is common. Hair may be sparse and coarse.

EEC syndrome

EEC syndrome is inherited as an autosomal dominant trait of low penetrance and variable expressivity.[23] Many sporadic cases have been reported. Ectrodactyly with tetramelic 3-4 syndactyly results in the characteristic lobster-claw deformity of the hands and feet. Hypoplastic metacarpal or metatarsal bones may be present. Cleft lip and palate create a characteristic nasal contour.

Other ectodermal anomalies include mild hypohidrosis; coarse, dry hair with hypotrichosis; xerostomia; dystrophic nails; dental enamel hypoplasia; and microdontia.

Associated defects include blepharophimosis, lacrimal duct anomalies, strabismus, deafness, choanal atresia, and abnormalities of the genitourinary tract.

Rapp-Hodgkin ectodermal dysplasia

Rapp-Hodgkin ectodermal dysplasia is an autosomal dominant syndrome.[24] High forehead, narrow nose, cleft lip or palate, and maxillary hyperplasia produce a distinctive facies. Hypohidrosis is severe enough to result in heat intolerance. Dental defects include conical teeth and hypodontia. Hair is sparse, has a steel-wool texture, and may show pili torti or pili canaliculi, as shown in the images below. Many patients present with recalcitrant, inflammatory scalp dermatitis followed by scarring alopecia. Nails are narrow and dystrophic, also shown below. Occasional abnormalities include deafness, eye defects, and hypospadias.

Abnormal hair shaft showing pili torti and a longiAbnormal 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 syndromeHands of father and son with Rapp-Hodgkin syndrome. Nails have the same characteristics; they are brittle, thin, and dystrophic.
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Causes

Ectodermal dysplasia results from the abnormal development of embryonic ectodermal structures. The genetic defects responsible for approximately 30 of the ectodermal dysplasias have been identified.[25, 26, 27]

X-linked recessive hypohidrotic ectodermal dysplasia (EDA or Christ-Siemens-Touraine syndrome) is caused by mutations in EDA, which encodes the ectodysplasin protein, a soluble ligand that activates the NF-kappaB and JNK/c-fos/c-jun signaling pathways.[28, 29] Ectodysplasin is important in promoting cell survival, growth, and differentiation.

Autosomal dominant and autosomal recessive hypohidrotic ectodermal dysplasia are caused by mutations in the DL gene, which encodes the EDA (ectodysplasin) receptor.[30] Autosomal recessive hypohidrotic ectodermal dysplasia may also result from mutations in the EDARADD gene, which encodes a protein that interacts with the EDA receptor.

Hidrotic ectodermal dysplasia (Clouston syndrome), which is an autosomal dominant disorder, is caused by mutations in GJB6, which encodes connexin 30, a component of intercellular gap junctions.[31]

EDA-ID and OL-EDA-ID are both caused by mutations in the NEMO gene, which encodes the regulatory subunit of the inhibitor-kappa kinase complex that regulates NF-kappaB activity.[32, 33, 34]

AEC (Hay-Wells) syndrome, Rapp-Hodgkin syndrome, EEC syndrome, limb-mammary syndrome, split hand-split foot malformation syndrome, and acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome are all caused by mutations in the TP63 gene.[35, 36] p63 is a transcription factor that regulates the activity of the tumor suppressor gene TP53.

The genetic defects underlying several other ectodermal dysplasias are also known, as follows:

  • Keratitis, ichthyosis, deafness (KID) syndrome is caused by mutations in the GJB2 gene, which encodes connexin 26.[37]
  • Margarita Island ectodermal dysplasia is caused by mutations in the PVRL1 gene, which encodes nectin-1.[38]
  • Ectodermal dysplasia with skin fragility is caused by mutations in the PKP1 gene, which encodes plakophilin 1.[39]
  • Goltz syndrome (focal dermal hypoplasia) is caused by mutations in the PORCN gene.[40]
  • Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis are caused by mutations in the KRT14 gene, which encodes keratin 14.[41]
  • Pachyonychia congenita type I is caused by mutations in either KRT6A (keratin 6a) or KRT16 (keratin 16), while pachyonychia congenita type II is caused by mutations in either KRT6B (keratin 6b) or KRT17 (keratin 17).
  • Ellis-van Creveld syndrome is cause by mutations in EVC or EVC2.[42, 43, 44]
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Contributor Information and Disclosures
Author

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, and Society for Pediatric Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

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

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.

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 and American Society for Laser Medicine and Surgery

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

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

Disclosure: Nothing to disclose.

Additional Contributors

The authors and editors of eMedicine 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.

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. 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. Jan 11 2012;[Medline].

  10. 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].

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

  12. 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].

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

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

  15. 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].

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

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

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

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

  20. 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].

  21. 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].

  22. 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].

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

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

  25. 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].

  26. 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].

  27. 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].

  28. 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].

  29. 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].

  30. 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].

  31. 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].

  32. 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].

  33. 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].

  34. 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].

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

  36. 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].

  37. 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].

  38. 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].

  39. 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].

  40. 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].

  41. 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].

  42. 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].

  43. 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].

  44. 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].

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

  46. 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].

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

  48. 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].

  49. 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].

  50. 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. Jan 2012;32(1):1-5. [Medline].

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

  52. 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].

  53. 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].

  54. 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].

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

  56. 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].

  57. 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].

  58. 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].

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

  60. 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].

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

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

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

  64. 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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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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