Ectodermal dysplasias

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  • 3  Itin PH. 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
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  • 7  Pinheiro M, Freire‐Maia N. Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet 1994;53:153–62. Cross Ref link Pubmed link
  • 8  Celik TH, Buyukcam A, Simsek‐Kiper PO, et al. A newborn with overlapping features of AEC and EEC syndromes. Am J Med Genet 2011;155A:3100–3. Cross Ref link Pubmed link
  • 9  DiGiovanna JJ, Priolo M, Itin P. 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  Nguyen‐Nielsen M, Skovbo S, Svaneby D, Pedersen L, Fryzek J. 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  Strachan LR, Hadially R. Tiers of clonal organization in the epidermis: the epidermal proliferation unit revisited. Stem Cell Rev 2008;4:149–57. Cross Ref link Pubmed link
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  • 13  Häärä O, Fujimori S, Schmidt‐Ullrich R, Hartmann C, Thesleff I, Mikkola ML. Ectodysplasin and Wnt pathways are required for salivary gland branching morphogenesis. Development 2011;138:2681–91. Cross Ref link Pubmed link
  • 14  Van Raamsdonk CD. 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  Janesick A, Shiotsugu J, Taketani M, Blumberg B. 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
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  • 17  Gong B, Liu T, Zhang X, et al. 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
  • 18  Sadier A, Viriot L, Pantalacci S, Laudet V. The ectodysplasin pathway: from diseases to adaptations. Trends Genet 2014;30(1):24–31. Cross Ref link Pubmed link
  • 19  Pummila M, Fliniaux I, Jaatinen R, et al. 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
  • 20  Wend P, Wend K, Krum SA, Miranda‐Carboni GA. The role of WNT10B in physiology and disease. Acta Physiol 2012;204:34–51. Cross Ref link
  • 21  Widelitz RB. Wnt signaling in skin organogenesis. Organogenesis 2008;4:123–33. Cross Ref link Pubmed link
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  • 23  Van den Boogaard MJ, Créton M, Bronkhorst Y, et al. 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
  • 24  Cluzeau C, Hadj‐Rabia S, Jambou M, et al. 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
  • 25  Koster MI. p63 in skin development and ectodermal dysplasias. J Invest Dermatol 2010;130:2352–8. Cross Ref link Pubmed link
  • 26  McDade SS, Henry AE, Pivato GP, et al. 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
  • 27  Wu N, Rollin J, Masse I, Lamartine J, Gidrol X. 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  Kantaputra PN, Malaivijtnond S, Vieira AR, et al. 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.
  • 29  Shalom‐Feuerstein R, Serror L, Aberdam E, et al. 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
  • 30  Baldridge D, Shchelochkov O, Kelly B, Lee B. Signaling pathways in human skeletal dysplasias. Annu Rev Genomics Hum Genet 2012;11:189–217. Cross Ref link
  • 31  Marvin ML, Mazzoni SM, Herron CM, Edwards S, Gruber SB, Petty EM. AXIN2‐associated autosomal dominant ectodermal dysplasia and neoplastic syndrome. Am J Med Genet 2011;155A:898–902. Cross Ref link Pubmed link
  • 32  Petrof G, Mellerio JE, McGrath JA. Desmosomal genodermatoses. Br J Dermatol 2012;166:36–45. Cross Ref link Pubmed link
  • 33  Lindfors PH, Voutilainen M, Mikkola ML. Ectodysplasin/NF‐kB signaling in embryonic mammary gland development. J Mammary Gland Biol Neoplasia 2013;18:165–9. Cross Ref link Pubmed link
  • 34  Courtois G, Smahi A. NF‐kappaB‐related genetic diseases. Cell Growth Differ 2006;13:843–51. Cross Ref link
  • 35  Karin M, Ben‐Neriah Y. Phosphorylation meets ubiquitination: the control of NF‐[kappa]B activity. Annu Rev Immunol 2000;18:621–63. Cross Ref link Pubmed link
  • 36  Kere J, Srivastava AK, Montonen O, et al. 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
  • 37  Mathew SJ, Haubert D, Krönke M, Leptin M. Looking beyond death: a morphogenetic role for the TNF signalling pathway. J Cell Sci 2009;122:1939–46. Cross Ref link Pubmed link
  • 38  Headon DJ, Overbeek PA. Involvement of a novel Tnf receptor homologue in hair follicle induction. Nature Genet 1999;22:370–4. Cross Ref link Pubmed link
  • 39  Headon DJ, Emmal SA, Ferguson BM, et al. Gene defect in ectodermal dysplasia implicates a death domain adapter in development. Nature 2001;414:913–16. Cross Ref link Pubmed link
  • 40  Smahi A, Courtois G, Rabia SH, et al. 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
  • 41  Zonana J, Elder ME, Schneider LC, et al. 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
  • 42  Doffinger R, Smahi A, Bessia C, et al. 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
  • 43  Wisniewsky SA, Trzeciak WH. A rare heterozygous TRAF6 variant is associated with hypohidrotic ectodermal dysplasia. Br J Dermatol 2012;166:1353–6. Cross Ref link Pubmed link
  • 44  Candi E, Cipollone R, Rivetti di Val Cervo P, Gonfloni S, Melino G, Knight R. p63 in epithelial development. Cell Mol Life Sci 2008;65:3126–33. Cross Ref link Pubmed link
  • 45  Zarnegar BJ, Webster DE, Lopez‐Pajares V, et al. 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
  • 46  Browne G, Cipollone R, Lena AM, et al. Differential altered stability and transcriptional activity of Np63 mutants in distinct ectodermal dysplasias. J Cell Sci 2012;124:2200–7. Cross Ref link
  • 47  Bellomaria A, Barbato G, Melino G, Paci M, Melino S. 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  Yang A, Schweitzer R, Sun D, et al. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature 1999;398:714–18. Cross Ref link Pubmed link
  • 49  Brunner HG, Hamel BCJ, van Bokhoven H. P63 gene mutations and human developmental syndromes. Am J Med Genet 2002;112:284–90. Cross Ref link Pubmed link
  • 50  Van Bokhoven H, Hamel BCJ, Bamshad M et al. 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
  • 51  Amiel J, Bougeard G, Francannet C, et al. TP63 gene mutation in ADULT syndrome. Eur J Hum Genet 2001;9:642–5. Cross Ref link Pubmed link
  • 52  Cummings CJ, Zoghbi HY. Fourteen and counting: unraveling trinucleotide repeat diseases. Hum Mol Genet 2000;9:909–16. Cross Ref link Pubmed link
  • 53  Guazzarotti L, Caprio C, Rinne TK, et al. 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
  • 54  Gerstein MB, Kundaje A, Hariharan M, et al. Architecture of the human regulatory network derived from ENCODE data. Nature 2012;489:91–100. Cross Ref link Pubmed link
  • 55  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;24:283–6. Cross Ref link Pubmed link
  • 56  Yang C, Chen W, Chen Y, Jiang J. Smoothened transduces Hedgehog signal by forming a complex with Evc/Evc2. Cell Res 2012;22:1593–604. Cross Ref link Pubmed link
  • 57  Memarpour M, Shafiei F. 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  Di Costanzo A, Festa L, Roscigno G, et al. 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
  • 59  Gai Z, Gui T, Muragaki Y. The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles. Histol Histopathol 2011;26:915–21. Pubmed link
  • 60  Van Steensel MA, Koedam MI, Swinkels OQ, Rietveld F, Steijlen PM. 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  Visinoni AF, Lisboa‐Costa T, Pagnan NA, Chautard‐Freire‐Maia EA. Ectodermal dysplasias: clinical and molecular review. Am J Med Genet 2009;149A:1980–2002. Cross Ref link Pubmed link
  • 62  Visinoni AF, Lisboa‐Costa T, Pagnan NA, Chautard‐Freire‐Maia EA. 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  Kawai T, Nishikomori R, Heike T. Diagnosis and treatment in anhidrotic ectodermal dysplasia with immunodeficiency. Allergol Int 2012;61:207–17. Cross Ref link Pubmed link
  • 64  Kawai T, Nishikomori R, Izawa K, et al. 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
  • 65  Doffinger R, Smahi A, Bessia C, et al. 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
  • 66  Temmerman ST, Ma CA, Zhao Y, et al. 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
  • 67  Ngadjeua F, Chiaravalli J, Traincard FC, Raynal B, Fontan E, Agou F. 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  Mancini AJ, Lawley LP, Uzel G. 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  Itin PH, Fistarol SK. Ectodermal dysplasias. Am J Med Genet 2004;131C:45–51. Cross Ref link Pubmed link
  • 70  Nguyen‐Nielsen M, Skovbo S, Svaneby D, Pedersen L, Fryzek J. 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  Haghighi A, Nikuei P, Haghighi‐Kakhki H, et al. 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
  • 72  Itin PH. 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  Clarke A, Phillips DIM, Brown R, Harper PS. Clinical aspects of X‐linked hypohidrotic ectodermal dysplasia. Arch Dis Child 1987;62:989–96. Cross Ref link Pubmed link
  • 74  Gaide O, Schneider P. Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. Nat Med 2003;9(5):614–18. Cross Ref link Pubmed link
  • 75  Aswegan AL, Josephson KD, Mowbray R, Pauli RM, Spritz RA, Williams MS. 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  Mancini AJ, Paller AS. 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  Cambiaghi S, Tadini G, Barbareschi M, Menni S, Caputo R. Rapp‐Hodgkin syndrome and AEC syndrome: are they the same entity? Br J Dermatol 1994;130:97–101. Cross Ref link Pubmed link
  • 78  Dishop MK, Bree AF, Hicks MJ. 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  Vanderhooft SL, Stephan MJ, Sybert VP. Severe skin erosions and scalp infections in AEC syndrome. Pediatr Dermatol 1993;10:334–40. Cross Ref link Pubmed link
  • 80  Julapalli MR, Scher RK, Sybert VP, Siegfried EC, Bree AF. 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  Bertola DR, Kim CA, Sugayama SMM, Albano LMJ, Utagawa CY, Gonzalez CH. 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  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 2001;10:221–9. Cross Ref link Pubmed link
  • 83  Celik TH, Buyukcam A, Simsek‐Kiper PO, et al. A newborn with overlapping features of AEC and EEC syndromes. Am J Med Genet 2011;155A:3100–3. Cross Ref link Pubmed link
  • 84  Cole P, Hatef DA, Kaufman Y, et al. 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
  • 85  Camacho F, Ferrando J, Pichardo AR, Sotillo I, Jorquera E. 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  Maclean K, Holme SA, Gilmour E, et al. 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
  • 87  Doray B, Badila‐Timbolschi D, Schaefer E, et al. Epidemiology of orofacial clefts (1995–2006) in France (Congenital Malformations of Alsace Registry). Arch Pediatr 2012;19:1021–9. Cross Ref link Pubmed link
  • 88  Vernersson Lindahl E, Garcia EL, Mills AA. 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  Rinne T, Hamel B, van Bokhoven H, Brunner HG. Pattern of p63 mutations and their phenotypes – update. Am J Med Genet 2006;140A:1396–406. Cross Ref link
  • 90  Rios LT, Araujo Junior E, Caetano AC, Nardozza LM, Moron AF, Martins MG. 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  Ruiz‐Perez VL, Thompson 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;72:728–32. Cross Ref link Pubmed link
  • 92  Birnbaum S, Reutter H, Lauster C, et al. 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
  • 93  Kondo S, Schutte BC, Richardson RJ, et al. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. Nature Genet 2002;32:285–9. Cross Ref link Pubmed link
  • 94  Goldsmith T, Eytan O, Magal L, et al. A mutation in TP63 causing a mild ectodermal dysplasia phenotype. J Invest Dermatol 2014;134:2277–80. Cross Ref link Pubmed link
  • 95  Shalom‐Feuerstein R, Serror L, Aberdam E, et al. 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

Tricho‐rhino‐phalangeal syndrome

  • 96  Giedion A. Das tricho‐rhino‐phalangeale syndrom. Helv Paediatr Acta 1966;5:475–82.
  • 97  Gai Z, Gui T, Muragaki Y. The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles. Histol Histopathol 2011;26:915–21. Pubmed link
  • 98  Lamartine J. Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol 2003;28:351–5. Cross Ref link Pubmed link
  • 99  Momeni P, Glöckner G, Schmidt O, et al. 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
  • 100  Malik TH, Von Stechow D, Bronson RT, Shivdasani RA. 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  Napierla D, Sam K, Morello R, et al. 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
  • 102  Seitz CS, Lüdecke HJ, Wagner N, Bröcker EB, Hamm H. 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  Lalevic BM, Nikolic MM, Polic DJ. Etude des cheveux du syndrome trichorhinophalangien type I. Ann Dermatol Venereol 1994;121:618–22. Pubmed link
  • 104  Hall BD, Langer LV, Giedion A, et al. Langer‐Giedion syndrome. Birth Defects 1974;10:147–64. Pubmed link
  • 105  Hou J, Parrish J, Lüdecke HJ, et al. 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
  • 106  Niikawa N, Kamei T. 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  Itin PH, Bohn S, Mathys D, Guggenheim R, Richard G. Trichorhinophalangeal syndrome type III. Dermatology 1996;193:349–52. Cross Ref link Pubmed link
  • 108  Lüdecke HJ, Schaper J, Meinecke P, et al. 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

Hidrotic ectodermal dysplasia

  • 109  Fraser FC, Der Kaloustian VM. 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  Fulk CS. Hidrotic ectodermal dysplasia. Report of a case with reticulated acropigmentation. J Am Acad Dermatol 1982;6:476–80. Cross Ref link Pubmed link
  • 111  Koch P, Foss P, Baum HP, Zaun H. Warzenförmige palmoplantare Keratodermie als charakteristisches Merkmal der hidrotischen ektodermalen Dysplasie vom Typ Clouston. Hautarzt 1995;46:272–5. Cross Ref link Pubmed link
  • 112  Ando Y, Tanaka T, Horiguchi Y, Ikai K, Tomono H. Hidrotic ectodermal dysplasia: a clinical and ultrastructural observation. Dermatologica 1988;176:205–11. Cross Ref link Pubmed link
  • 113  Suigura K, Teranishi M, Matsumoto Y, Akiyama M. 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  Lamartine J, Essenfelder GM, Kibar Z, et al. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nature Genet 2000;26:142–4. Cross Ref link Pubmed link
  • 115  Fujimoto A, Kurban M, Nakamura M, et al. 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
  • 116  Melkote S, Duhrat 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;48:184–5. Cross Ref link Pubmed link

Focal dermal hypoplasia

  • 117  Goltz RW, Peterson WC, Gorlin RJ, Ravits HG. Focal dermal hypoplasia. Arch Dermatol 1962;86:708–17. Cross Ref link Pubmed link
  • 118  Itin P. Alterations in nails and teeth as a clue for genodermatoses. Hautarzt 2014;65:513–19. Cross Ref link Pubmed link
  • 119  Lombardi MP, Bulk S, Celli J, et al. Mutation updat for the PORCN gene. Hum Mutat 2011;32:723–8. Cross Ref link Pubmed link
  • 120  Howell JB, Freeman RG. Cutaneous defects of focal dermal hypoplasia: an ectomesodermal dysplasia syndrome. J Cutan Pathol 1989;16:237–58. Cross Ref link Pubmed link
  • 121  Büchner SA, Itin P. 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  Hamm H. Cutaneous mosaicism of lethal mutations. Am J Med Genet 1999;85:342–5. Cross Ref link Pubmed link
  • 123  Wang L, Jin X, Zhao X, et al. Focal dermal hypoplasia: updates. Oral Dis 2014;20:17–24. Cross Ref link Pubmed link

MIDAS syndrome

  • 124  Wimplinger I, Morelo M, Rosenberger G, et al. 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
  • 125  Indrieri A, van Rahden VA, Tiranti V, et al. 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

Focal facial dermal dysplasia

  • 126  Kowalski DC, Fenske NA. 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
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