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Genodermatoses: Inherited Diseases of the Skin

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Book cover Molecular Diagnostics in Dermatology and Dermatopathology

Part of the book series: Current Clinical Pathology ((CCPATH))

Abstract

This chapter discusses the molecular basis of inherited diseases in which the primary changes are manifest in the skin and its appendages (nails, hair, sweat glands, and sebaceous glands). The disorders have been subdivided into sections according to their clinical presentation and molecular basis, but this is not a fixed classification, as many diseases will fit into more than one category. With increasing knowledge of the identities and functions of the genes involved in these inherited skin conditions, many of these disorders are being reclassified, as has occurred recently for epidermolysis bullosa (EB) and the ectodermal dysplasias. Molecular-based diagnostic criteria should help streamline the archaic and sometimes confusing classification systems currently in use. Knowledge of the precise molecular defect(s) underlying hereditary skin diseases will be a necessary step in the development and application of “personalized medicine” approaches to treatment, so that strategies targeting specific genes, pathways, or even mutant alleles may be possible in the near future.

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References

  1. Moss C, Jones DO, Blight A, et al. Birthmark due to cutaneous mosaicism for keratin 10 mutation. Lancet. 1996;345:596.

    Article  Google Scholar 

  2. Paller AS, Syder AJ, Chan YM, et al. Genetic and clinical mosaicism in a type of epidermal nevus. New Engl J Med. 1994;331:1408–15.

    Article  PubMed  CAS  Google Scholar 

  3. Rouan F, Pulkkinen L, Meneguzzi G, et al. Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. J Invest Dermatol. 2000;114:381–7.

    Article  PubMed  CAS  Google Scholar 

  4. Bonifas JM, Morley BJ, Oakey RE, et al. Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis. Proc Natl Acad Sci USA. 1987;84:9248–51.

    Article  PubMed  CAS  Google Scholar 

  5. Ehrenreich M, Tarlow MM, Godlewska-Janusz E, et al. Incontinentia pigmenti (Bloch-Sulzberger syndrome): a systemic disorder. Cutis. 2007;79:355–62.

    PubMed  Google Scholar 

  6. Nakayama T, Sakakihara Y, Hanaoka S, et al. Calcification of basal ganglia in a patient with partial trisomy 5q and partial monosomy 18q. Acta Paediatr Jpn. 1993;35:340–4.

    PubMed  CAS  Google Scholar 

  7. Takizawa Y, Pulkkinen L, Chao SC, et al. Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa. J Invest Dermatol. 2000;115:307–11.

    Article  PubMed  CAS  Google Scholar 

  8. Liao H, Waters AJ, Goudie DR, et al. Filaggrin mutations are genetic modifying factors exacerbating X-linked ichthyosis. J Invest Dermatol. 2007;127:2795–8.

    Article  PubMed  CAS  Google Scholar 

  9. Titeux M, Pendaries V, Tonasso L, et al. A frequent functional SNP in the MMP1 promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa. Hum Mutat. 2008;29:267–76.

    Article  PubMed  CAS  Google Scholar 

  10. Irvine AD, McLean WHI. Human keratin diseases: the increasing spectrum of disease and subtlety of the ­phenotype-genotype correlation. Br J Dermatol. 1999;140:815–28.

    Article  PubMed  CAS  Google Scholar 

  11. Gratchev A. The nucleotide excision repair of DNA in human cells and its association with xeroderma pigmentosum. Adv Exp Med Biol. 2008;637:113–9.

    Article  PubMed  CAS  Google Scholar 

  12. Lai Cheong JE, Wessagowit V, McGrath JA. Molecular abnormalities of the desmosomal protein desmoplakin in human disease. Clin Exp Dermatol. 2005;30:261–6.

    Article  PubMed  CAS  Google Scholar 

  13. Leech SN, Moss C. A current and online genodermatosis database. Br J Dermatol. 2007;156:1115–48.

    Article  PubMed  CAS  Google Scholar 

  14. Szeverenyi I, Cassidy AJ, Chung CW, et al. The human intermediate filament database: comprehensive information on a gene family involved in many human diseases. Hum Mutat. 2008;29:351–60.

    Article  PubMed  CAS  Google Scholar 

  15. Smith FJD, Liao H, Cassidy AJ, et al. The genetic basis of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005;10:21–30.

    Article  PubMed  CAS  Google Scholar 

  16. Siegel DH, Ashton GH, Penagos HG, et al. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet. 2003;73:174–87.

    Article  PubMed  CAS  Google Scholar 

  17. McLean WH, Irvine AD, Hamill KJ, et al. An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome. Hum Mol Genet. 2003;12:2395–409.

    Article  PubMed  CAS  Google Scholar 

  18. Irvine AD, McLean WHI. The molecular genetics of the genodermatoses: progress to date and future directions. Br J Dermatol. 2003;148:1–13.

    Article  PubMed  CAS  Google Scholar 

  19. Smith FJD, Irvine AD, Terron-Kwiatkowski A, et al. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris. Nat Genet. 2006;38:337–42.

    Article  PubMed  CAS  Google Scholar 

  20. Sandilands A, Terron-Kwiatkowski A, Hull PR, et al. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema. Nat Genet. 2007;39:650–4.

    Article  PubMed  CAS  Google Scholar 

  21. Chen H, Ho JC, Sandilands A, et al. Unique and recurrent mutations in the filaggrin gene in Singaporean Chinese patients with ichthyosis vulgaris. J Invest Dermatol. 2008;128:1669–75.

    Article  PubMed  CAS  Google Scholar 

  22. Nomura T, Sandilands A, Akiyama M, et al. Unique mutations in the filaggrin gene in Japanese patients with ichthyosis vulgaris and atopic dermatitis. J Allergy Clin Immunol. 2007;119:434–40.

    Article  PubMed  CAS  Google Scholar 

  23. Palmer CNA, Irvine AD, Terron-Kwiatkowski A, et al. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis. Nat Genet. 2006;38:441–6.

    Article  PubMed  CAS  Google Scholar 

  24. Omary MB, Coulombe PA, McLean WHI. Intermediate filament proteins and their associated diseases. N Engl J Med. 2004;351:2087–100.

    Article  PubMed  CAS  Google Scholar 

  25. Lane EB. Keratins. In: Royce PM, Steinmann B, editors. Connective tissue and its heritable disorders. Molecular, genetic and medical aspects. New York: Wiley-Liss; 1993. p. 237–47.

    Google Scholar 

  26. Fuchs E, Cleveland DW. A structural scaffolding of intermediate filaments in health and disease. Science. 1998;279:514–9.

    Article  PubMed  CAS  Google Scholar 

  27. Leachman SA, Kaspar RL, Fleckman P, et al. Clinical and pathological features of pachyonychia congenita. J Investig Dermatol Symp Proc. 2005;10:3–17.

    Article  PubMed  CAS  Google Scholar 

  28. Bowden PE, Haley JL, Kansky A, et al. Mutation of a type II keratin gene (K6a) in pachyonychia congenita. Nat Genet. 1995;10:363–5.

    Article  PubMed  CAS  Google Scholar 

  29. McLean WH, Rugg EL, Lunny DP, et al. Keratin 16 and keratin 17 mutations cause pachyonychia congenita. Nat Genet. 1995;9:273–8.

    Article  PubMed  CAS  Google Scholar 

  30. Smith FJD, 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. 1998;7:1143–8.

    Article  PubMed  CAS  Google Scholar 

  31. Liao H, Sayers JM, Wilson NJ, et al. A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita. J Dermatol Sci. 2007;48:199–205.

    Article  PubMed  CAS  Google Scholar 

  32. Wilson NJ, Messenger AG, Leachman SA, et al. Keratin K6c mutations cause focal palmoplantar keratoderma. J Invest Dermatol. 2010;130:425–9.

    Google Scholar 

  33. Reis A, Hennies H-C, Langbein L, et al. Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK). Nat Genet. 1994;6:174–9.

    Article  PubMed  CAS  Google Scholar 

  34. Terron-Kwiatkowski A, Paller AS, Compton J, et al. Two cases of primarily palmoplantar keratoderma associated with novel mutations in keratin 1. J Invest Dermatol. 2002;119:966–71.

    Article  PubMed  CAS  Google Scholar 

  35. Lai-Cheong JE, Arita K, McGrath JA. Genetic diseases of junctions. J Invest Dermatol. 2007;127:2713–25.

    Article  PubMed  CAS  Google Scholar 

  36. Armstrong DK, McKenna KE, Purkis PE, et al. Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma. Hum Mol Genet. 1999;8:143–8.

    Article  PubMed  CAS  Google Scholar 

  37. Whittock NV, Ashton GH, Dopping-Hepenstal PJ, et al. Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol. 1999;113:940–6.

    Article  PubMed  CAS  Google Scholar 

  38. Norgett EE, Lucke TW, Bowers B, Munro CS, et al. Early death from cardiomyopathy in a family with autosomal dominant striate palmoplantar keratoderma and woolly hair associated with a novel insertion mutation in desmoplakin. J Invest Dermatol. 2006;126:1651–4.

    Article  PubMed  CAS  Google Scholar 

  39. Bolling MC, Jonkman MF. Skin and heart: une liaison dangereuse. Exp Dermatol. 2009;18:658–68.

    Article  PubMed  CAS  Google Scholar 

  40. Alcalai R, Metzger S, Rosenheck S, et al. A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol. 2003;42:319–27.

    Article  PubMed  CAS  Google Scholar 

  41. Norgett EE, Hatsell SJ, Carvajal-Huerta L, et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet. 2000;9:2761–6.

    Article  PubMed  CAS  Google Scholar 

  42. Tanaka A, Lai-Cheong JE, Cafe ME, et al. Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families. Br J Dermatol. 2009;160:692–7.

    Article  PubMed  CAS  Google Scholar 

  43. Uzumcu A, Norgett EE, Dindar A, et al. Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet. 2006;43:e5.

    Article  PubMed  CAS  Google Scholar 

  44. Whittock NV, Wan H, Morley SM. Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome. J Invest Dermatol. 2002;118:232–8.

    Article  PubMed  CAS  Google Scholar 

  45. Jonkman MF, Pasmooij AM, Pasmans SG, et al. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet. 2005;77:653–60.

    Article  PubMed  CAS  Google Scholar 

  46. Asimaki A, Syrris P, Ward D, et al. Unique epidermolytic bullous dermatosis with associated lethal cardiomyopathy related to novel desmoplakin mutations. J Cutan Pathol. 2009;36:553–9.

    Article  PubMed  Google Scholar 

  47. Fine JD, Eady RA, Bauer EA, et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008;58:931–50.

    Article  PubMed  Google Scholar 

  48. Rugg EL, McLean WHI, Lane EB, et al. A functional “knock-out” for human keratin 14. Genes Dev. 1994;8:2563–73.

    Article  PubMed  CAS  Google Scholar 

  49. McLean WHI, Pulkkinen L, Smith FJD, et al. Loss of plectin causes epidermolysis-bullosa with muscular-­dystrophy – cDNA cloning and genomic organization. Genes Dev. 1996;10:1724–35.

    Article  PubMed  CAS  Google Scholar 

  50. Smith FJ, Eady RA, Leigh IM, et al. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet. 1996;13:450–7.

    Article  PubMed  CAS  Google Scholar 

  51. Koss-Harnes D, Jahnsen FL, Wiche G, et al. Plectin abnormality in epidermolysis bullosa simplex Ogna: non-responsiveness of basal keratinocytes to some anti-rat plectin antibodies. Exp Dermatol. 1997;6:41–8.

    Article  PubMed  CAS  Google Scholar 

  52. Pfendner E, Uitto J. Plectin gene mutations can cause epidermolysis bullosa with pyloric atresia. J Invest Dermatol. 2005;124:111–5.

    Article  PubMed  CAS  Google Scholar 

  53. Varki R, Sadowski S, Uitto J, et al. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-­genotype correlations in the dystrophic subtypes. J Med Genet. 2007;44:181–92.

    Article  PubMed  CAS  Google Scholar 

  54. Jobard F, Bouadjar B, Caux F, et al. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet. 2003;12:925–35.

    Article  PubMed  CAS  Google Scholar 

  55. Cassidy AJ, van Steensel MAM, Steijlen PM, et al. A homozygous missense mutation in TGM5 abolishes ­epidermal transglutaminase 5 activity and causes acral peeling skin syndrome. Am J Hum Genet. 2005;77:909–17.

    Article  PubMed  CAS  Google Scholar 

  56. Priolo M. Ectodermal dysplasias: an overview and update of clinical and molecular-functional mechanisms. Am J Med Genet A. 2009;149A:2003–13.

    Article  PubMed  CAS  Google Scholar 

  57. Itin PH, Fistarol SK. Ectodermal dysplasias. Am J Med Genet C Semin Med Genet. 2004;131C:45–51.

    Article  PubMed  Google Scholar 

  58. Lamartine J. Towards a new classification of ectodermal dysplasias. Clin Exp Dermatol. 2003;28:351–5.

    Article  PubMed  CAS  Google Scholar 

  59. Pinheiro M, Freire-Maia N. Ectodermal dysplasias: a clinical classification and a causal review. Am J Med Genet. 1994;53:153–62.

    Article  PubMed  CAS  Google Scholar 

  60. Ringpfeil F, McGuigan K, Fuchsel L, et al. Pseudoxanthoma elasticum is a recessive disease characterized by compound heterozygosity. J Invest Dermatol. 2006;126:782–6.

    Article  PubMed  CAS  Google Scholar 

  61. Matsuzaki Y, Nakano A, Jiang QJ, et al. Tissue-specific expression of the ABCC6 gene. J Invest Dermatol. 2005;125:900–5.

    PubMed  CAS  Google Scholar 

  62. Thomas I, Kihiczak GG, Fox MD, et al. Piebaldism: an update. Int J Dermatol. 2004;43:716–9.

    Article  PubMed  Google Scholar 

  63. Dessinioti C, Stratigos AJ, Rigopoulos D, et al. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp Dermatol. 2009;18:741–9.

    Article  PubMed  CAS  Google Scholar 

  64. Tomita Y, Suzuki T. Genetics of pigmentary disorders. Am J Med Genet C Semin Med Genet. 2004;131C:75–81.

    Article  PubMed  Google Scholar 

  65. Gronskov K, Ek J, Brondum-Nielsen K. Oculocutaneous albinism. Orphanet J Rare Dis. 2007;2:43.

    Article  PubMed  Google Scholar 

  66. Govani FS, Shovlin CL. Hereditary haemorrhagic telangiectasia: a clinical and scientific review. Eur J Hum Genet. 2009;17:860–71.

    Article  PubMed  CAS  Google Scholar 

  67. Bideau A, Brunet G, Heyer E, et al. An abnormal concentration of cases of Rendu-Osler disease in the Valserine valley of the French Jura: a genealogical and demographic study. Ann Hum Biol. 1992;19:233–47.

    Article  PubMed  CAS  Google Scholar 

  68. Kjeldsen AD, Vase P, Green A. Hereditary haemorrhagic telangiectasia: a population-based study of prevalence and mortality in Danish patients. J Intern Med. 1999;245:31–9.

    Article  PubMed  CAS  Google Scholar 

  69. Grand’Maison A. Hereditary hemorrhagic telangiectasia. CMAJ. 2009;180:833–5.

    Article  PubMed  Google Scholar 

  70. Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis. 2008;3:32.

    Article  PubMed  Google Scholar 

  71. Johnson RL, Rothman AL, Xie J, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science. 1996;272:1668–71.

    Article  PubMed  CAS  Google Scholar 

  72. Hahn H, Wicking C, Zaphiropoulous PG, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell. 1996;85:841–51.

    Article  PubMed  CAS  Google Scholar 

  73. Aszterbaum M, Rothman A, Johnson RL, et al. Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome. J Invest Dermatol. 1998;110:885–8.

    Article  PubMed  CAS  Google Scholar 

  74. Knudson Jr AG. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci USA. 1971;68:820–3.

    Article  PubMed  Google Scholar 

  75. Yamamoto K, Yoshihashi H, Furuya N, et al. Further delineation of 9q22 deletion syndrome associated with basal cell nevus (Gorlin) syndrome: report of two cases and review of the literature. Congenit Anom (Kyoto). 2009;49:8–14.

    Article  Google Scholar 

  76. Fan Z, Li J, Du J, et al. A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. J Med Genet. 2008;45:303–8.

    Article  PubMed  CAS  Google Scholar 

  77. McCabe KM, Olson SB, Moses RE. DNA interstrand crosslink repair in mammalian cells. J Cell Physiol. 2009;220:569–73.

    Article  PubMed  CAS  Google Scholar 

  78. Hussussian CJ, Struewing JP, Goldstein AM, et al. Germline p16 mutations in familial melanoma. Nat Genet. 1994;8:15–21.

    Article  PubMed  CAS  Google Scholar 

  79. Kamb A, Shattuck-Eidens D, Eeles R, et al. Analysis of the p16 gene (CDKN2) as a candidate for the chromosome 9p melanoma susceptibility locus. Nat Genet. 1994;8:23–6.

    Article  PubMed  CAS  Google Scholar 

  80. Zuo L, Weger J, Yang Q, et al. Germline mutations in the p16INK4a binding domain of CDK4 in familial ­melanoma. Nat Genet. 1996;12:97–9.

    Article  PubMed  CAS  Google Scholar 

  81. Meyle KD, Guldberg P. Genetic risk factors for melanoma. Hum Genet. 2009;126:499–510.

    Article  PubMed  CAS  Google Scholar 

  82. Nelson AA, Tsao H. Melanoma and genetics. Clin Dermatol. 2009;27:46–52.

    Article  PubMed  Google Scholar 

  83. Gudbjartsson DF, Sulem P, Stacey SN, et al. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat Genet. 2008;40:886–91.

    Article  PubMed  CAS  Google Scholar 

  84. Raimondi S, Sera F, Gandini S, et al. MC1R variants, melanoma and red hair color phenotype: a meta-analysis. Int J Cancer. 2008;122:2753–60.

    Article  PubMed  CAS  Google Scholar 

  85. Badminton MN, Elder GH. Molecular mechanisms of dominant expression in porphyria. J Inherit Metab Dis. 2005;28:277–86.

    Article  PubMed  CAS  Google Scholar 

  86. Schneider-Yin X, Harms J, Minder EI. Porphyria in Switzerland, 15 years experience. Swiss Med Wkly. 2009;139:198–206.

    PubMed  CAS  Google Scholar 

  87. Kato M, Kimura H, Seki M, et al. Omenn syndrome–review of several phenotypes of Omenn syndrome and RAG1/RAG2 mutations in Japan. Allergol Int. 2006;55:115–9.

    Article  PubMed  CAS  Google Scholar 

  88. Villa A, Notarangelo LD, Roifman CM. Omenn syndrome: inflammation in leaky severe combined immunodeficiency. J Allergy Clin Immunol. 2008;122:1082–6.

    Article  PubMed  CAS  Google Scholar 

  89. McLean WHI. Combing the genome for the root cause of baldness. Nat Genet. 2008;40:1270–1.

    Article  PubMed  CAS  Google Scholar 

  90. Sprecher E. Disentangling the roots of inherited hair disorders. Nat Genet. 2008;40:265–6.

    Article  PubMed  CAS  Google Scholar 

  91. Esparza-Gordillo J, Weidinger S, Folster-Holst R, et al. A common variant on chromosome 11q13 is associated with atopic dermatitis. Nat Genet. 2009;41:596–601.

    Article  PubMed  CAS  Google Scholar 

  92. Nair RP, Duffin KC, Helms C, et al. Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet. 2009;41:199–204.

    Article  PubMed  CAS  Google Scholar 

  93. Zhang XJ, Huang W, Yang S, et al. Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. Nat Genet. 2009;41:205–10.

    Article  PubMed  CAS  Google Scholar 

  94. Sandilands A, Sutherland C, Irvine AD, et al. Filaggrin in the frontline: role in skin barrier function and disease. J Cell Sci. 2009;122:1285–94.

    Article  PubMed  CAS  Google Scholar 

  95. Fallon PG, Sasaki T, Sandilands A, et al. A homozygous frameshift mutation in the murine filaggrin gene facilitates enhanced percutaneous allergen priming. Nat Genet. 2009;41:602–8.

    Article  PubMed  CAS  Google Scholar 

  96. de Cid R, Riveira-Munoz E, Zeeuwen PL, et al. Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet. 2009;41:211–5.

    Article  PubMed  Google Scholar 

  97. Reversade B, Escande-Beillard N, Dimopoulou A, et al. Mutations in PYCR1 cause cutis laxa with progeroid features. Nat Genet. 2009;41:1016–21.

    Article  PubMed  CAS  Google Scholar 

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  1. Division of Molecular Medicine, Colleges of Life Sciences and Medicine, Dentistry and Nursing, MSI/WTB/JBC Complex, University of Dundee, Dundee, DD1 5EH, Scotland, UK

    W. H. Irwin McLean

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  1. Frances J. D. Smith
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  2. W. H. Irwin McLean
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Correspondence to W. H. Irwin McLean .

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  1. Health Center, Dept. Dermatology, University of Connecticut, Farmington Ave. 263, Farmington, 06030, Connecticut, USA

    Michael J. Murphy

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Smith, F.J.D., McLean, W.H.I. (2011). Genodermatoses: Inherited Diseases of the Skin. In: Murphy, M. (eds) Molecular Diagnostics in Dermatology and Dermatopathology. Current Clinical Pathology. Humana Press. https://doi.org/10.1007/978-1-60761-171-4_19

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