Part 6, Reference for Chapter 67: Ectodermal Dysplasias
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Ectodermal dysplasias
- 1 Ectodermal dysplasia: thoughts and practical concepts concerning disease classification – the role of functional pathways in the molecular genetic diagnosis. Dermatology 2013;226:111–14. Cross Ref link Pubmed link .
- 2 Ectodermal dysplasias: clinical and molecular review. Am J Med Genet 2009;149A:1980–2002. Cross Ref link Pubmed link , , , .
- 3 Rationale and background as basis for a new classification of the ectodermal dysplasias. Am J Med Genet 2009;149A:1973–6. Cross Ref link Pubmed link .
- 4 Sechste Bemerkung. Von Menschen ohne Haare und Zähne. Arch Geb Frauen Neugeb Kinderkr 1793;4:684. .
- 5 Hereditary ectodermal dysplasia (congenital ectodermal defect). A report of two cases. Am J Dis Child 1929;37:766–90. Cross Ref link .
- 6 Ectodermal dysplasias. Am J Med Genet 2004;131C:45–51. Cross Ref link Pubmed link , .
- 7 Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet 1994;53:153–62. Cross Ref link Pubmed link , .
- 8 A newborn with overlapping features of AEC and EEC syndromes. Am J Med Genet 2011;155A:3100–3. Cross Ref link Pubmed link , , , et al.
- 9 Approach towards a new classification for ectodermal dysplasias: integration of the clinical and molecular knowledge. Am J Med Genet 2009;149A:2068–70. Cross Ref link Pubmed link , , .
- 10 The prevalence of X‐linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995–2010. Eur J Med Genet 2013;56:236–42. Cross Ref link Pubmed link , , , , .
- 11 Tiers of clonal organization in the epidermis: the epidermal proliferation unit revisited. Stem Cell Rev 2008;4:149–57. Cross Ref link Pubmed link , .
- 12 The establishment of Spemann's organizer and patterning of the vertebrate embryo. Nature Rev Genet 2000;1:171–81. Cross Ref link Pubmed link , , , .
- 13 Ectodysplasin and Wnt pathways are required for salivary gland branching morphogenesis. Development 2011;138:2681–91. Cross Ref link Pubmed link , , , , , .
- 14 Hereditary hair loss and the ancient signaling pathways that regulate ectodermal appendage formation. Clin Genet 2009;76:332–40. Cross Ref link Pubmed link .
- 15 RIPPLY3 is a retinoic acid‐inducible repressor required for setting the borders of the pre‐placodal ectoderm. Development 2012;139:1213–24. Cross Ref link Pubmed link , , , .
- 16 Identification of ectodysplasin target genes reveals the involvement of chemokines in hair development. J Invest Dermatol 2012;132:1094–102. Cross Ref link Pubmed link , , , .
- 17 Disease embryo development network reveals the relationship between disease genes and embryo development genes. J Theor Biol 2011;287:100–8. Cross Ref link Pubmed link , , , et al.
- 18 The ectodysplasin pathway: from diseases to adaptations. Trends Genet 2014;30(1):24–31. Cross Ref link Pubmed link , , , .
- 19 Ectodysplasin has a dual role in ectodermal organogenesis: inhibition of Bmp activity and induction of Shh expression. Development 2007;134:117–25. Cross Ref link Pubmed link , , , et al.
- 20 The role of WNT10B in physiology and disease. Acta Physiol 2012;204:34–51. Cross Ref link , , , .
- 21 Wnt signaling in skin organogenesis. Organogenesis 2008;4:123–33. Cross Ref link Pubmed link .
- 22 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;85:97–105. Cross Ref link Pubmed link , , , et al.
- 23 Mutations in WNT10A are present in more than half of isolated hypodontia cases. J Med Genet 2012;49:327–31. Cross Ref link Pubmed link , , , et al.
- 24 Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. Hum Mut 2011;32:70–2. Cross Ref link Pubmed link , , , et al.
- 25 p63 in skin development and ectodermal dysplasias. J Invest Dermatol 2010;130:2352–8. Cross Ref link Pubmed link .
- 26 Genome‐wide analysis of p63 binding sites identifies AP‐2 factors as co‐regulators of epidermal differentiation. Nucleic Acids Res 2012;40:7190–206. Cross Ref link Pubmed link , , , et al.
- 27 p63 regulates human keratinocyte proliferation via MYC‐regulated gene network and differentiation commitment through cell adhesion‐related gene network. J Biol Chem 2012;287:5627–38. Cross Ref link Pubmed link , , , , .
- 28 Mutation in SAM domain of TP63 is associated with nonsyndromic cleft lip and palate and cleft palate. Am J Med Genet 2012;155A:1432–6. , , , et al.
- 29 Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia‐related patients is rescued by the small compound APR‐246/PRIMA‐1MET. Proc Natl Acad Sci USA 2013;110:2152–6. Cross Ref link Pubmed link , , , et al.
- 30 Signaling pathways in human skeletal dysplasias. Annu Rev Genomics Hum Genet 2012;11:189–217. Cross Ref link , , , .
- 31 AXIN2‐associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. Am J Med Genet 2011;155A:898–902. Cross Ref link Pubmed link , , , , , .
- 32 Desmosomal genodermatoses. Br J Dermatol 2012;166:36–45. Cross Ref link Pubmed link , , .
- 33 Ectodysplasin/NF‐kB signaling in embryonic mammary gland development. J Mammary Gland Biol Neoplasia 2013;18:165–9. Cross Ref link Pubmed link , , .
- 34 NF‐kappaB‐related genetic diseases. Cell Growth Differ 2006;13:843–51. Cross Ref link , .
- 35 Phosphorylation meets ubiquitination: the control of NF‐[kappa]B activity. Annu Rev Immunol 2000;18:621–63. Cross Ref link Pubmed link , .
- 36 X‐linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nature Genet 1996;13:409–16. Cross Ref link Pubmed link , , , et al.
- 37 Looking beyond death: a morphogenetic role for the TNF signalling pathway. J Cell Sci 2009;122:1939–46. Cross Ref link Pubmed link , , , .
- 38 Involvement of a novel Tnf receptor homologue in hair follicle induction. Nature Genet 1999;22:370–4. Cross Ref link Pubmed link , .
- 39 Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 2001;414:913–16. Cross Ref link Pubmed link , , , et al.
- 40 The NF‐kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune‐deficiency syndromes. Hum Mol Genet 2002;11:2371–5. Cross Ref link Pubmed link , , , et al.
- 41 A novel X‐linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is alleleic to incontinentia pigmenti and due to mutations in IKK‐gamma (NEMO). Am J Hum Genet 2000;67:1555–62. Cross Ref link Pubmed link , , , et al.
- 42 X‐linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF‐kB signaling. Nature Genet 2001;27:277–85. Cross Ref link Pubmed link , , , et al.
- 43 A rare heterozygous TRAF6 variant is associated with hypohidrotic ectodermal dysplasia. Br J Dermatol 2012;166:1353–6. Cross Ref link Pubmed link , .
- 44 p63 in epithelial development. Cell Mol Life Sci 2008;65:3126–33. Cross Ref link Pubmed link , , , , , .
- 45 Genomic profiling of a human organotypic model of AEC syndrome reveals ZNF750 as an essential downstream target of mutant TP63. Am J Hum Genet 2012;91:435–43. Cross Ref link Pubmed link , , , et al.
- 46 Differential altered stability and transcriptional activity of Np63 mutants in distinct ectodermal dysplasias. J Cell Sci 2012;124:2200–7. Cross Ref link , , , et al.
- 47 Recognition mechanism of p63 by the E3 ligase Itch: novel strategy in the study and inhibition of this interaction. Cell Cycle 2012;11:3638–48. Cross Ref link Pubmed link , , , , .
- 48 p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature 1999;398:714–18. Cross Ref link Pubmed link , , , et al.
- 49 P63 gene mutations and human developmental syndromes. Am J Med Genet 2002;112:284–90. Cross Ref link Pubmed link , , .
- 50 p63 gene mutations in EEC syndrome, limb‐mammary syndrome, and isolated split hand‐split foot malformation suggest a genotype‐phenotype correlation. Am J Hum Genet 2001;69:481–92. Cross Ref link Pubmed link , , et al.
- 51 TP63 gene mutation in ADULT syndrome. Eur J Hum Genet 2001;9:642–5. Cross Ref link Pubmed link , , , et al.
- 52 Fourteen and counting: unraveling trinucleotide repeat diseases. Hum Mol Genet 2000;9:909–16. Cross Ref link Pubmed link , .
- 53 Limb‐mammary syndrome (LMS) associated with internal female genitalia dysgenesia: a new genotype/phenotype correlation? Am J Med Genet 2008;146:2001–4. Cross Ref link , , , et al.
- 54 Architecture of the human regulatory network derived from ENCODE data. Nature 2012;489:91–100. Cross Ref link Pubmed link , , , et al.
- 55 Mutations in a new gene in Ellis–van Creveld syndrome and Weyers acrodental dysostosis. Nat Genet 2000;24:283–6. Cross Ref link Pubmed link , , , et al.
- 56 Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2. Cell Res 2012;22:1593–604. Cross Ref link Pubmed link , , , .
- 57 Witkop tooth and nail syndrome: a report of three cases in a family. Pediatr Dermatol 2011;28:281–5. Cross Ref link Pubmed link , .
- 58 A dominant mutation etiologic for human tricho‐dento‐osseous syndrome impairs the ability of DLX3 to downregulate Np63alfa. J Cell Physiol 2011;226:2189–97. Cross Ref link Pubmed link , , , et al.
- 59 The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles. Histol Histopathol 2011;26:915–21. Pubmed link , , .
- 60 Woolly hair, premature loss of teeth, nail dystrophy, acral hyperkeratosis and facial abnormalities: possible new syndrome in a Dutch kindred. Br J Dermatol 2001;145(1):157–61. Cross Ref link Pubmed link , , , , .
- 61 Ectodermal dysplasias: clinical and molecular review. Am J Med Genet 2009;149A:1980–2002. Cross Ref link Pubmed link , , , .
- 62 Ectodermal dysplasias: clinical and molecular review. Am J Med Genet 2009;149A:1980–2002. Cross Ref link Pubmed link , , , .
X‐linked hypohidrotic ectodermal dysplasia with immunodeficiency
- 63 Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency. Allergol Int 2012;61:207–17. Cross Ref link Pubmed link , , .
- 64 Frequent somatic mosaicism of NEMO in T cells of patients with X‐linked anhidrotic ectodermal dysplasia with immunodeficiency. Blood 2012;119:5458–66. Cross Ref link Pubmed link , , , et al.
- 65 X‐linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF‐kB signaling. Nature Genet 2001;27:277–85. Cross Ref link Pubmed link , , , et al.
- 66 Defective nuclear IKK alfa function in patients with ectodermal dysplasia with immune deficiency. J Clin Invest 2012;122:315–26. Cross Ref link Pubmed link , , , et al.
- 67 Two‐sided ubiquitin binding of NF‐kB essential modulator (NEMO) zinc finger unveiled by a mutation associated with anhidrotic ectodermal dysplasia with immunodeficiency syndrome. J Biol Chem 2013;288(47):33722–37. Cross Ref link Pubmed link , , , , , .
- 68 X‐linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis. Arch Dermatol 2008;144:342–6. Cross Ref link Pubmed link , , .
Hypohidrotic ectodermal dysplasia
- 69 Ectodermal dysplasias. Am J Med Genet 2004;131C:45–51. Cross Ref link Pubmed link , .
- 70 The prevalence of X‐linked hypohidrotic ectodermal dysplasia (XLHED) in Denmark, 1995–2010. Eur J Med Genet 2013;56:236–42. Cross Ref link Pubmed link , , , , .
- 71 Whole‐exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis. Br J Dermatol 2013;168:1353–6. Cross Ref link Pubmed link , , , et al.
- 72 Ectodermal dysplasia: thoughts and practical concepts concerning disease classification – the role of functional pathways in the molecular genetic diagnosis. Dermatology 2013;226:111–14. Cross Ref link Pubmed link .
- 73 Clinical aspects of X‐linked hypohidrotic ectodermal dysplasia. Arch Dis Child 1987;62:989–96. Cross Ref link Pubmed link , , , .
- 74 Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. Nat Med 2003;9(5):614–18. Cross Ref link Pubmed link , .
- 75 Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. Am J Med Genet 1997;72:462–7. Cross Ref link Pubmed link , , , , , .
Ankyloblepharon–ectodermal defect–cleft lip/palate syndrome
- 76 What syndrome is this? Ankyloblepharon‐ecteodermal defects‐cleft lip and palate (Hay‐Wells) syndrome. Pediatr Dermatol 1997;14:403–5. Cross Ref link Pubmed link , .
- 77 Rapp‐Hodgkin syndrome and AEC syndrome: are they the same entity? Br J Dermatol 1994;130:97–101. Cross Ref link Pubmed link , , , , .
- 78 Pathologic changes of skin and hair in ankyloblepharon‐ectodermal defects‐cleft lip/palate (AEC) syndrome. Am J Med Genet 2009;149A:1935–41. Cross Ref link Pubmed link , , .
- 79 Severe skin erosions and scalp infections in AEC syndrome. Pediatr Dermatol 1993;10:334–40. Cross Ref link Pubmed link , , .
- 80 Dermatologic findings of ankyloblepharon‐ectodermal defects‐cleft lip/palate (AEC) syndrome. Am J Med Genet 2009;149A:1900–6. Cross Ref link Pubmed link , , , , .
- 81 AEC syndrome and CHAND syndrome: further evidence of clinical overlapping in the ectodermal dysplasias. Pediatr Dermatol 2000;17:218–21. Cross Ref link Pubmed link , , , , , .
- 82 Hay‐Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63. Hum Mol Genet 2001;10:221–9. Cross Ref link Pubmed link , , , et al.
- 83 A newborn with overlapping features of AEC and EEC syndromes. Am J Med Genet 2011;155A:3100–3. Cross Ref link Pubmed link , , , et al.
- 84 Facial clefting and oroauditory pathway manifestations in ankyloblepharon‐ectodermal defects‐cleft lip/palate (AEC) syndrome. Am J Med Genet 2009;149A:1910–15. Cross Ref link Pubmed link , , , et al.
- 85 Rapp‐Hodgkin syndrome with pili canaliculi. Pediatr Dermatol 1993;10:54–7. Cross Ref link Pubmed link , , , , .
Ectrodactyly–ectodermal dysplasia–cleft lip/palate syndrome
- 86 EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: is there a genotype–phenotype correlation? Am J Med Genet 2007;143A:1114–19. Cross Ref link Pubmed link , , , et al.
- 87 Epidemiology of orofacial clefts (1995–2006) in France (Congenital Malformations of Alsace Registry). Arch Pediatr 2012;19:1021–9. Cross Ref link Pubmed link , , , et al.
- 88 An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome. Am J Med Genet 2013;161A:1961–71. Cross Ref link Pubmed link , , .
- 89 Pattern of p63 mutations and their phenotypes – update. Am J Med Genet 2006;140A:1396–406. Cross Ref link , , , .
- 90 Prenatal diagnosis of EEC syndrome with “lobster claw” anomaly by 3D ultrasound. J Clin Imaging Sci 2012;2:40. Cross Ref link Pubmed link , , , , , .
- 91 Mutations in two nonhomologous genes in a head‐to‐head configuration cause Ellis–van Creveld syndrome. Am J Hum Genet 2003;72:728–32. Cross Ref link Pubmed link , , , et al.
- 92 Mutation screening in the IRF6‐gene in patients with apparently nonsyndromic orofacial clefts and a positive family history suggestive of autosomal‐dominant inheritance. Am J Med Genet 2008;146A:787–90. Cross Ref link Pubmed link , , , et al.
- 93 Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nature Genet 2002;32:285–9. Cross Ref link Pubmed link , , , et al.
- 94 A mutation in TP63 causing a mild ectodermal dysplasia phenotype. J Invest Dermatol 2014;134:2277–80. Cross Ref link Pubmed link , , , et al.
- 95 Impaired epithelial differentiation of induced pluripotent stem cells from ectodermal dysplasia‐related patients is rescued by the small compound APR‐246/PRIMA‐1MET. Proc Natl Acad Sci USA 2013;110:2152–6. Cross Ref link Pubmed link , , , et al.
Tricho‐rhino‐phalangeal syndrome
- 96 Das tricho‐rhino‐phalangeale syndrom. Helv Paediatr Acta 1966;5:475–82. .
- 97 The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles. Histol Histopathol 2011;26:915–21. Pubmed link , , .
- 98 Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol 2003;28:351–5. Cross Ref link Pubmed link .
- 99 Mutations in a new gene, encoding a zinc‐finger protein, cause tricho‐rhino‐phalangeal syndrome type I. Nature Genet 2000;24:71–4. Cross Ref link Pubmed link , , , et al.
- 100 Deletion of the GATA domain of TRPS1 causes an absence of facial hair and provides new insights into the bone disorder in inherited tricho‐rhino‐phalangeal syndromes. Mol Cell Biol 2002;24:8592–600. Cross Ref link , , , .
- 101 Uncoupling of chondrocyte differentiation and perichondrial mineralization underlies the skeletal dysplasia in tricho‐rhino‐phalangeal syndrome. Hum Mol Genet 2008;17:2244–54. Cross Ref link Pubmed link , , , et al.
- 102 Trichorhinophalangeal syndrome I. Clinical and molecular characterization of 3 members of a family and 1 sporadic case. Arch Dermatol 2001;137:1437–42. Cross Ref link Pubmed link , , , , .
- 103 Etude des cheveux du syndrome trichorhinophalangien type I. Ann Dermatol Venereol 1994;121:618–22. Pubmed link , , .
- 104 Langer‐Giedion syndrome. Birth Defects 1974;10:147–64. Pubmed link , , , et al.
- 105 A 4‐megabase YAC contig that spans the Langer‐Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1). Genomics 1995;29:87–97. Cross Ref link Pubmed link , , , et al.
- 106 The Sugio‐Kajii syndrome, proposed tricho‐rhino‐phalangeal syndrome type III. Am J Med Genet 1986;24:759–60. Cross Ref link Pubmed link , .
- 107 Trichorhinophalangeal syndrome type III. Dermatology 1996;193:349–52. Cross Ref link Pubmed link , , , , .
- 108 Genotypic and phenotypic spectrum in tricho‐rhino‐phalangeal syndrome types I and III. Am J Hum Genet 2001;68:81–91. Cross Ref link Pubmed link , , , et al.
Hidrotic ectodermal dysplasia
- 109 A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED). Am J Med Genet 2001;100:164–8. Cross Ref link Pubmed link , .
- 110 Hidrotic ectodermal dysplasia. Report of a case with reticulated acropigmentation. J Am Acad Dermatol 1982;6:476–80. Cross Ref link Pubmed link .
- 111 Warzenförmige palmoplantare Keratodermie als charakteristisches Merkmal der hidrotischen ektodermalen Dysplasie vom Typ Clouston. Hautarzt 1995;46:272–5. Cross Ref link Pubmed link , , , .
- 112 Hidrotic ectodermal dysplasia: a clinical and ultrastructural observation. Dermatologica 1988;176:205–11. Cross Ref link Pubmed link , , , , .
- 113 Clouston syndrome with heterozygous GJB6 mutation p.Ala88Val and GJB2 variant p.Val27Ile revealing mild sensorineural hearing loss and photophobia. JAMA Dermatol 2013;epub. , , , .
- 114 Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nature Genet 2000;26:142–4. Cross Ref link Pubmed link , , , et al.
- 115 GJB6, of which mutations underlie Clouston syndrome, is a potential direct target gene of p63. J Dermatol Sci 2013;69:159–66. Cross Ref link Pubmed link , , , et al.
- 116 Alopecia in congenital hidrotic ectodermal dysplasia responding to treatment with a combination of topical minoxidil and tretinoin. Int J Dermatol 2009;48:184–5. Cross Ref link Pubmed link , , , .
Focal dermal hypoplasia
- 117 Focal dermal hypoplasia. Arch Dermatol 1962;86:708–17. Cross Ref link Pubmed link , , , .
- 118 Alterations in nails and teeth as a clue for genodermatoses. Hautarzt 2014;65:513–19. Cross Ref link Pubmed link .
- 119 Mutation updat for the PORCN gene. Hum Mutat 2011;32:723–8. Cross Ref link Pubmed link , , , et al.
- 120 Cutaneous defects of focal dermal hypoplasia: an ectomesodermal dysplasia syndrome. J Cutan Pathol 1989;16:237–58. Cross Ref link Pubmed link , .
- 121 Focal dermal hypoplasia syndrome in a male. Case report, histologic and immunohistochemical studies. Arch Dermatol 1992;128:1078–82. Cross Ref link Pubmed link , .
- 122 Cutaneous mosaicism of lethal mutations. Am J Med Genet 1999;85:342–5. Cross Ref link Pubmed link .
- 123 Focal dermal hypoplasia: updates. Oral Dis 2014;20:17–24. Cross Ref link Pubmed link , , , et al.
MIDAS syndrome
- 124 Mutations of the mitochondrial holocytochrome c‐type synthase in X‐linked dominant microphthalmia with linear skin defects syndrome. Am J Hum Genet 2006;79:878–89. Cross Ref link Pubmed link , , , et al.
- 125 Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease. Am J Hum Genet 2012;91:942–9. Cross Ref link Pubmed link , , , et al.
Focal facial dermal dysplasia
- 126 The focal facial dermal dysplasias: report of a kindred and a proposed new classification. J Am Acad Dermatol 1992;27:575–82. Cross Ref link Pubmed link , .
- 127 Homozygous nonsense mutations in TWIST2 cause Setleis syndrome. Am J Hum Genet 2014;87:289–96. Cross Ref link , , , et al.
- 128 Focal preauricular dermal dysplasia in a newborn. Pediatr Dermatol 2013;30:e259–60. Cross Ref link Pubmed link , , , .
- 129 Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1. Hum Mol Genet 2013;22:696–03. Cross Ref link Pubmed link , , , et al.