Skip to main content
SpringerLink
Log in

Genetic Diseases of Oral Mucosa

  • Chapter
Oral Diseases

  • 1055 Accesses

Abstract

A number of genetic or systemic diseases have characteristic manifestations of the oral mucosa. In the majority of these disorders, the oral lesions follow the onset of the skin or systemic disease and in some they appear simultaneously; however, there are few genetic diseases where the oral manifestations represent the first clinical sign of the generalized disease. Although the oral manifestation only rarely is necessary for the diagnosis, it sometimes represents the key point without which the diagnosis would be very difficult.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Peutz JL. A very remarkable of familial polyposis of mucous membrane of intestinal tract and masopharynx accompanied by peculiar pigmentation of skin and mucous membrane. Ned Maandschr Geneeskd 1921; 10: 134

    Google Scholar 

  2. Burdick D, Prior JT. Peutz-Jeghers Syndrome: A clinicopathologic study of a large family with a 27-year follow up. Cancer 1982; 50: 2139

    PubMed  CAS  Google Scholar 

  3. Laskaris G. Color Atlas of Oral diseases. 2nd Ed. Stuttgart: Thieme Verlag, 1994; 28

    Google Scholar 

  4. Linos VA, Dozois RR, Dahlin DC et al. Does Peutz-Jeghers syndrome predispose to gastrointestinal malignancy? Arch Surg, 1981; 116: 1182–4

    PubMed  CAS  Google Scholar 

  5. Spigelman AD, Murday V, Phillips RKS. Cancer and the Peutz-Jeghers syndrome. Cut 1989; 30: 1588–90

    CAS  Google Scholar 

  6. McAllister AJ et al. Seventeen patients with Peutz-Jeghers syndrome in four generations. Am J Surg 1967; 114: 839

    PubMed  CAS  Google Scholar 

  7. Miller RL et al. Darier’s disease of the oral mucosa: clinical case report with ultrastructural evaluation. J Oral Pathol 1982; 11: 79

    PubMed  CAS  Google Scholar 

  8. Ferris T, Lamey PJ, Rennie JS. Darier’s disease: oral features and genetic aspects. Br Dent J, 1990; 168: 71–3

    PubMed  CAS  Google Scholar 

  9. Fenerly A, Laskaris G. Oral manifestation in Darier’s disease. Hell Stomatol Rev 1984; 28: 40

    Google Scholar 

  10. Papillon MM, Lefevre P: Deux cas de keratodermie palmaire et plantaire symmetrique familiale (maladie de Meleda) chez le frere et la soeur. Coexistence dans les deux cas d’alterations dentaires graves. Bull Soc Fr Dermatol Syphilig 1924; 31: 82

    Google Scholar 

  11. Gorlin RJ et al. Syndromes of the head and neck. 2d Ed. New York: McGraw-Hill 1976

    Google Scholar 

  12. Vasilopoulou A, Laskaris G. Papillon-Lefevre syndrome: report of two brothers. J Dent Child 1989; Sept-Oct: 388

    Google Scholar 

  13. Laskaris G. Color Atlas of Oral diseases. 2nd Ed. Stuttgart: Thieme Verlag, 1994; 20

    Google Scholar 

  14. Gelmetti C, Nazzaro V, Cerri D et al. Long-term preservation of permanent teeth in a patient with Papillon-Lefevre syndrome treated with etretinate. Pediatr Dermatol, 1989; 6: 222–5

    PubMed  CAS  Google Scholar 

  15. Nguyen TQ, Greer KE, Fisher GB et al. Papillon-Lefevre syndrome — report of two patients treated successfully with isotretinoin. J Am Dermatol 1985; 15: 46–9

    Google Scholar 

  16. Nazzaro V, Blanchet-Bardon C, Mimoz C. Papillon-Lefevre syndrome. Ultrastructural study and successful treatment with acitretin. Arch Dermatol 1988; 124: 533–9

    PubMed  CAS  Google Scholar 

  17. Tchou PK, Kohn T. Dyskeratosis congenita: an autosomal dominant disorder. J Am Acad Dermatol, 1982; 6: 1034–9

    PubMed  CAS  Google Scholar 

  18. Laskaris G: Color Atlas of Oral diseases. 2nd Ed. Stuttgart: Thieme Verlag, 1994; 16

    Google Scholar 

  19. Wormer R et al. Dyskeratosis congenita: two examples of this multisystem disorder. Pediatrics, 1983; 71: 603

    Google Scholar 

  20. Mills SE, Cooper PH, Beacham BE et al. Intracranial calcifications and dyskeratosis congenita. Arch Dermatol, 1979; 115: 1437–9

    PubMed  CAS  Google Scholar 

  21. Koch HF. Effect of retinoids on precancerous lesions of oral mucosa. In: Orfanos CE, Braun-Falco O, Farber EM et al. (Eds.). Retinoids. Advances in Basic Research and Therapy. Berlin: Springer-Verlag, 1981; 307–12

    Google Scholar 

  22. Feinstein A, Friedman J, Schwach-Millet M. Pachynonychia congenita. J Am Acad Dermatol, 1988; 19: 705–11

    PubMed  CAS  Google Scholar 

  23. Haber RM, Rose TH. Autosomal recessive pachyonychia congenita. J Am Acad Dermatol, 1986; 122: 919–23

    CAS  Google Scholar 

  24. Sharma VK, Sharma R, Kaus S. Pachyonychia congenita with tuberous sclerosis. Int J Dermatol 1989: 28: 332–33

    PubMed  CAS  Google Scholar 

  25. Anneroth G et al. Pachyonychia congenita: a clinical, histological and microradiographic study with special reference to oral manifestations. Acta Derm Venereol (Stockh), 1975; 55: 387

    CAS  Google Scholar 

  26. Hunter J, Savin J, Dahen R. Clinical Dermatology, Oxford: Blackwell Sc, 1992; 42

    Google Scholar 

  27. Eastman JR, Goldblatt LJ. Psoriasis palatal manifestations and psychologic considerations. J Periodontol, 1983; 54: 736–9

    PubMed  CAS  Google Scholar 

  28. Ulmasky M, Michelle R, Araj B. Oral psoriasis: report of six new cases. J Oral Pathol Med 1995; 24: 42–5

    Google Scholar 

  29. Sklavounou A, Laskaris G. Oral psoriasis. Report of a case and review of the literature. Dermatologica, 1990; 180: 157–159

    PubMed  CAS  Google Scholar 

  30. Laskaris G. Color atlas of oral diseases, 2nd Ed. Stuttgart: Thieme Verlag 1994; 218

    Google Scholar 

  31. Moschella SL, Hurley HJ: Dermatology. Philadelphia: WB Saunders, 1992; 619–622

    Google Scholar 

  32. Laskaris G, Vareltzidis A Avgerinou G. Focal palmoplantar and oral mycosal hyperkeratosis syndrome. Oral Surg 1980; 50: 250

    PubMed  CAS  Google Scholar 

  33. Young WG, Newcomb GM, Daley TJ. Focal palmoplanter and gingival hyperkeratosis syndrome: report of a family with cytologic, ultrastructural and histochemical findings. Oral Surg, 1982; 53: 473–482

    PubMed  CAS  Google Scholar 

  34. Gerlin RJ. F.P. and marginal gingival hyperkeratosis syndrome. Birth Defects, 1976; 12: 239–242

    Google Scholar 

  35. Laskaris G. Color atlas of oral diseases. 2nd Ed. Stuttgart: Thieme Verlag, 1994; 18

    Google Scholar 

  36. Hassed SJ, Kincannon JM, Arnold GL. Clouston syndrome: an ectodermal dysplasia without significant dental findings. Am J Med Genet, 1996; 61: 274–6

    PubMed  CAS  Google Scholar 

  37. Zirbel GM, Ruttum MS, Post AC, Esterly NB. Odonto-onychodermal dysplasia. Br J Dermatol, 1995; 133: 797–800

    PubMed  CAS  Google Scholar 

  38. Ilyna HG, Amoashy DS, Grygory HA. “New” ectodermal dysplasia with mental retardation and syndactyly. Am J Med Genet, 1995; 58: 345–7

    Google Scholar 

  39. Tyler MT, Ficarra G, Silverman S Jr, Odom RB, Regezi JA. Malignant acanthosis nigricans with florid papillary oral lesions. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 1996; 81: 445–9

    PubMed  CAS  Google Scholar 

  40. Kurzrock R, Cohen PR. Cutaneous paraneoplastic syndromes in solid tumors. Am J Med, 1995; 99: 662–71

    PubMed  CAS  Google Scholar 

  41. Panidis D, Skiadopoulos S, Rousso D, Ioannides D, Panidou E. Association of acanthosis nigricans with insulin resistance in patients with polycystic ovary syndrome. Br J Dermatol 1995; 132: 936–41

    PubMed  CAS  Google Scholar 

  42. Schwartz RA, Janniger CK. Childhood acanthosis nigricans. Cutis, 1995; 55: 337–41

    PubMed  CAS  Google Scholar 

  43. Polymeropoulos MH, Ide SE, Wright M, Goodship J, Weissenbach J, Pyeritz RE, Da Silva EO, Ortiz De Luna RI, Francomano CA. The gene for the Ellis-van Creveld syndrome is located on chromosome 4p16. Genomics, 1996; 35: 1–5

    PubMed  CAS  Google Scholar 

  44. Levi SE, Dansky R, Milner S, Benatar A, Govendrageloo K, du Plessis J. Atrioventricular septal defect and type A postaxial Polydactyly without other major associated anomalies: a specific association. Pediatr Cardiol, 1995; 16: 242–6

    Google Scholar 

  45. Digilio MC, Marino B, Giannotti A, Dallapiccola B. Single atrium, atrioventricular canal/postaxial hexodactyly indicating Ellis-van Creveld syndrome. Hum Genet, 1995; 96: 251–2

    PubMed  CAS  Google Scholar 

  46. Lukinmaa PL, Jensen BL, TheslefF I, Andreasen JO, Kreiborg S. Histological observations of teeth and peridental tissue in cleidocranial dysplasia imply increased activity of odontogenic epithelium and abnormal bone remodeling. J Craniofac Genet Dev Biol, 1995; 15: 212–21

    PubMed  CAS  Google Scholar 

  47. Sharma A, Yadav R, Ahlawat K. Cleidocranial dysplasia. Indian Pediatr, 1995; 32: 588–92

    PubMed  CAS  Google Scholar 

  48. Gelb BD, Cooper E, Shevell M, Desnick RJ. Genetic mapping of the cleidocranial dysplasia (CCD) locus on chromosome band 6p21 to include a microdeletion. Am J Med Genet 1995; 58: 200–5

    PubMed  CAS  Google Scholar 

  49. Feldman GJ, Robin NH, Brueton LA, Robertson E, Thompson EM, Siegel Bartelt J, Gasser DL, Bailey LC, Zackai EH, Muenke M. A gene for cleidocranial dysplasia maps to the short arm of chromosome 6. Am J Hum Genet, 1995; 56: 938–43

    PubMed  CAS  Google Scholar 

  50. Richardson A, Deussen FF: Facial and dental anomalies in cleidocranial dysplasia: a study of 17 cases. Int J Paediatr Dent, 1994; 4: 225–31

    CAS  Google Scholar 

  51. Jensen BL. Cleidocranial dysplasia: craniofacial morphology in adult patients. J Craniofac Genet Dev Biol, 1994; 14:163–76

    PubMed  CAS  Google Scholar 

  52. Jensen BL, Kreiborg S. Development of the skull in infants with cleidocranial dysplasia. J Craniofac Genet Dev Biol, 1993; 13: 89–97

    PubMed  CAS  Google Scholar 

  53. Markovic MD: At the crossroads of oral facial genetics. Eur J Orthod, 1992; 14: 469–81

    PubMed  CAS  Google Scholar 

  54. Gupta SK, Sharma OP, Malhotra S, Gupta S. Cleido-cranial dysostosis-skeletal abnormalities. Australas Radiol, 1992; 36: 238–42

    PubMed  CAS  Google Scholar 

  55. Sule RR, Dhumawat DJ, Gharpuray MB. Focal dermal hypoplasia. Cutis, 1994; 53: 309–12

    PubMed  CAS  Google Scholar 

  56. Arnold WP, Steijlen PM, Happle R. Focal dermal hypoplasia (Goltz-Gorlin syndrome). Br J Dermatol 1993; 129: 214–5

    PubMed  CAS  Google Scholar 

  57. Kilmer SL, Grix AW Jr, Isseroff RR. Focal dermal hypoplasia: four cases with widely varying presentations. J Am Acad Dermatol, 1993; 28: 839–43

    PubMed  CAS  Google Scholar 

  58. Anneren G, Arvidson B, Gustavson KH, et al. Orofacio-digital syndrome I and II: radiological methods for diagnosis and clinical variations. Clin Genet, 1984; 26: 178–186

    PubMed  CAS  Google Scholar 

  59. Mohr OL. A hereditary lethal syndrome in man. Avh Norske Videnskad, 1994: 14: 1–18

    Google Scholar 

  60. Sugarman GI, Katakia M, Menkes JH. See-saw winking in a familial oro-facial digital syndrome. Clin Genet, 1971; 2:248–54

    PubMed  CAS  Google Scholar 

  61. Baraister M. The orofaciodigital syndromes. J Med Genet, 1986; 23: 116–119.

    Google Scholar 

  62. Cramer JA, Schmidt WJ. Incontinentia pigmenti. Arch Dermatol, 1955; 71: 699–702

    CAS  Google Scholar 

  63. Curth HO, Warburton D. The genetics of incontinentia pigmenti. Arch Dermatol, 1965; 92: 229–235

    Google Scholar 

  64. Nazzaro V, Brusasco A, Gelemtti C, et al. Hypochromic reticulated streaks in incontinentia pigmenti: an immunohistochemical and ultrastructural study. Pediatr Dermatol, 1990; 3: 174–178

    Google Scholar 

  65. Caputo R, Gianotti F, Innocenti M. Ultrastructural findings in incontinentia pigmenti. Int J Dermatol, 1975; 14: 46–55

    PubMed  CAS  Google Scholar 

  66. Spallone A: Incontinentia pigmenti: seven case repots from one family: Br J Ophthalmol, 1987; 71: 629–634

    PubMed  CAS  Google Scholar 

  67. Caputo R, Gelmetti C, Annessi G. Incontinentia Pigmenti. In: Pediatric dermatology and dermatopathology, vol III. Philadelphia: Williams and Wilkins, 1995, pp 35–40

    Google Scholar 

  68. Pye RJ. Bullous eruptions. In: Rook/Wilkinson/Ebling: Textbook of Dermatology 5th Ed. Oxford: Blackwell Scientific Publications, 1992

    Google Scholar 

  69. Gedde-Dahl T, Anton-Lamprect I. Epidermolysis bullosa: In Emory AEH, Rimoin DL (Eds). Principles and Practice in Medical Genetics New York: Livingstone, 1981

    Google Scholar 

  70. Coulombe PA, Hutton ME, Letai A et al. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetics and functional analyses. Cell, 1991; 64: 1301–1304

    Google Scholar 

  71. Ryynanen M, Knowlton RG, Uitto J: Mapping of epidermolysis bullosa simplex to mutations to chromosome 12. Am J Hum Genet 1991; 459: 978–983

    Google Scholar 

  72. Fine JD, Stenn J, Johnson L et al. Autosomal recessive epidermolysis bullosa simplex. Arch Dermatol, 1989; 125: 931–940

    PubMed  CAS  Google Scholar 

  73. Salih MAM, Lake BD, Hag MA et al. Lethal epidermolythic epidermolysis bullosa: a new autosomal recessive type of epidermolysis bullosa. Br J Dermatol, 1985; 113: 135–140

    PubMed  CAS  Google Scholar 

  74. Stepp MA, Spurr-Michaud S, Tisdale A et al. a6β4 integrin heterodimer is a component of hemidesmosomes. Proc Natl Acad Sci USA, 1990; 87: 8970–8979

    PubMed  CAS  Google Scholar 

  75. Ryynanen J, Jaakkola S, Engvall E et al. Expression of B4 integrins in human skin: comparison of epidermal distribution with Bi integrin epitopes, and modulation by calcium and vitamin D3 in cultured keratinocytes. J Invest Dermatol 1991; 97: 562–569

    PubMed  CAS  Google Scholar 

  76. Burgeson RE. Type VII collagen anchoring fibrils and epidermolysis bullosa. J Invest Dermatol, 1993; 101: 252–260

    PubMed  CAS  Google Scholar 

  77. Ryynanen M, Knowlton RG, Parente MG et al. Human type VII collagen (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa. Am J Hum Genet, 1991; 49: 797

    PubMed  CAS  Google Scholar 

  78. Valle KJ, Bauer EA. Enhanced biosynthesis of human skin collagenase in fibroblasts cultures from recessive dystrophic epidermolysis bullosa. J Clin Invest, 1980; 66: 176–181

    PubMed  CAS  Google Scholar 

  79. Winberg JO, Gedde-Dahl T, Bauer EA. Collagenase expression in skin fibroblasts from families with recessive dystrophic epidermolysis bullosa. J Invest Dermatol, 1989; 92: 82–90

    PubMed  CAS  Google Scholar 

  80. Wright JT, Fine JD, Johnson LB. Oral soft tissues in hereditary epidermolysis bullosa. Oral Surg Oral Med Oral Pathol, 1991; 71: 440–446

    PubMed  CAS  Google Scholar 

  81. Niemi KM, Sommer H, Kero M et al. Epidermolysis bullosa simplex associated with unusual dystrophy and recessive inheritance. Arch Dermatol, 1988, 124: 551–559

    PubMed  CAS  Google Scholar 

  82. Haneke E, Anton-Lamprecht I. Ultrastructure of blister formation in epidermolysis bullosa hereditaria. V. Epidermolysis bullosa simplex localisata type Weber-Cockayne. J Invest Dermatol, 1982; 78: 219–224

    PubMed  CAS  Google Scholar 

  83. Tidmann MJ, Eady RAJ. Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. J Invest Dermatol, 1986; 86: 51–59

    Google Scholar 

  84. Tidman MJ, Eady RAJ: Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique. J Invest Dermatol, 1985; 84: 374–379

    PubMed  CAS  Google Scholar 

  85. Bauer EA, Briggaman RA. Hereditary epidermolysis bullosa. In: Fitzpatrick TB, Eisen AZ, Wolff K et al (Eds). Dermatology in general medicine. 4th Ed. New York: McGraw-Hill, 1993

    Google Scholar 

  86. Carter DM, Lin AN, Varghese MC, Caldwell D, Pratt LA, Eisinger M. Treatment of junctional epidermolysis bullosa with epidermal autografts. J Am Acad Dermatol, 1987; 17: 246

    PubMed  CAS  Google Scholar 

  87. Fine JD, Johnson L. Efficacy of systemic phenytoin in the treatment of junctional epidermolysis bullosa. Arch Dermatol, 1988; 124: 1402–1410

    PubMed  CAS  Google Scholar 

  88. Gruskay DM. Nutritional management in the child with epidermolysis bullosa. Arch Dermatol, 1988; 124: 760

    PubMed  CAS  Google Scholar 

  89. Grybosky JD, Toulokian R, Campanella RA. Gastrointestinal manifestations of epidermolysis bullosa in children. Arch Dermatol, 1988; 124: 746–751

    Google Scholar 

  90. Bauer EA, Cooper TW. Therapeutic considerations in recessive dystrophic epidermolysis bullosa. Arch Dermatol, 1981; 117: 529–532

    PubMed  CAS  Google Scholar 

  91. Lin AN, Stern RS, Caldwell-Brown D. Phenytoin for recessive dystrophic epidermolysis bullosa. J Invest Dermatol, 1989; 92: 472–479

    Google Scholar 

  92. Bauer EA, Seltzer JL, Eisen AZ. Retinoic acid inhibition of collagenase and gelatinase expression in human skin fibroblast cultures: evidence for a dual mechanism. J Invest Dermatol, 1983; 81: 162–169

    PubMed  CAS  Google Scholar 

  93. Griffin RP, Mayau BJ. The anaesthetic management of patients with dystrophic epidermolysis bullosa a review of 44 patients over 10 years period. Anaesthesia, 1993; 48: 810–815

    PubMed  CAS  Google Scholar 

  94. Shenefelt PD, Castellano LM, Fensken A. Successful treatment of albopapuloid epidermolysis bullosa (Pasini variant) with pulse topical corticosteroid therapy. J Am Acad Dermatol, 1993; 29: 785–789

    PubMed  CAS  Google Scholar 

  95. Evans GW, Johnson PE: Zinc binding factor in acrodermatitis enteropathica. Lancet, 1976; 2: 1310–1315

    PubMed  CAS  Google Scholar 

  96. Van Wouwel JP, Uijlenbroek JJ. The role of the pancreas in the regulation of zinc status. Biol Trace Elem Res, 1994; 42: 143

    Google Scholar 

  97. Eckert CD, Sloan MV, Duncan JR et al. Zinc binding: difference between human and bovine milk. Science, 1977; 195:789–799

    Google Scholar 

  98. Cousins RJ, Smith KT. Zinc binding properties of bovine and human milk in vitro: influence of change in zinc content. Am J Clin Nutr, 1980; 33: 1083–1089

    PubMed  CAS  Google Scholar 

  99. Jensen RG, Clark RM, Ferris AM. Composition of the lipids in human milk: review. Lipids, 1980, 15: 345–351

    PubMed  CAS  Google Scholar 

  100. Cunnane SC. Maternal essential fatty acid implementation increases zinc absorption in neonatal rats: relevant to the defect in zinc absorption in acrodermatitis enteropathica. Pediatr Res, 1982; 16: 599

    PubMed  CAS  Google Scholar 

  101. Fukumuya KA, Sakamoto M, Olntani O, et al. Zinc binding proteins of newborn rats in the dermis. Curr Probl Dermatol, 1983; 11: 327–331

    Google Scholar 

  102. Fraker PJ, Jardieu P, Cook J. Zinc deficiency and immune function. Arch Dermatol, 1987; 123:1699

    PubMed  CAS  Google Scholar 

  103. Prasad AS. Clinical biochemistry and nutritional spectrum of zinc in human subjects: an update. Nutr Rev, 1983; 41:197–200

    PubMed  CAS  Google Scholar 

  104. Sandstrom B, Cederblad A, Lindblad BS, Lonnerdal B. Acrodermatitis enteropathica, zinc metabolism, copper status, and immune function. Arch Pediatr Adolesc Med, 1994; 148: 980

    PubMed  CAS  Google Scholar 

  105. Sehgal WN, Jain S. Chronic familial benign pemphigus. J Dermatol, 1994; 21: 382–390

    PubMed  CAS  Google Scholar 

  106. Abell E. Immunopathological investigation of glycocalyx material in Darier’s and Hailey-Hailey disease. J Invest Dermatol, 1983; 80: 335–340

    Google Scholar 

  107. Cram DL, Muller SA, Winkelmann RA. Ultraviolet induced acantholysis in familial benign chronic pemphigus. Arch Dermatol, 1967; 96: 636–639

    PubMed  CAS  Google Scholar 

  108. Burns RA, Reed WB, Swatek FE, Omieczinsky DT. Familial benign chronic pemphigus. Induction of lesions by Candida albicans. Arch Dermatol, 1967; 96: 254–258

    Google Scholar 

  109. Zaim MT, Bickers DR. Herpes simplex associated with Hailey-Hailey disease. J Am Acad Dermatol, 1987; 17: 701–708

    PubMed  CAS  Google Scholar 

  110. Malchus R, Marsch WC, Ehlers G. HLA-B 16 in Hailey-Hailey disease. Acta Derm Venereol (Stockh), 1986; 66: 264–269

    CAS  Google Scholar 

  111. Ikeda S, Welsh EA Peluso AM, Leyden W, Duvic M, Woodley DT, Epstein EH Jr. Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q. Hum Mol Genet, 1994; 3: 1147–1152

    PubMed  CAS  Google Scholar 

  112. Bergman R, Levy R, Pam Z, Lichting C, Hazaz B, Friedman-Birnbaum R. A study of keratin expression in benign familial chronic pemphigus. Am J Dermatopathol, 1992; 14: 32

    PubMed  CAS  Google Scholar 

  113. Wilgram GF et al. An electron microscopic study of acantholysis and dyskeratosis in Hailey and Hailey’s disease. J Invest Dermatol, 1962; 39: 373–379

    PubMed  CAS  Google Scholar 

  114. Haber H, Russell B. Sisters with familial benign chronic pemphigus (Gougerot, Hailey and Hailey). Br J Dermatol, 1950; 62: 458–461

    Google Scholar 

  115. Serpico R, Femiano F, Cozzolino F, Baeta GM. L’evoluzione della terapia in patologia orale: l’uso del cortisone per uso topico madiante inoforesi medicamentosa. XXII SIOCMF Congress. Bologna, Italy, 1992

    Google Scholar 

  116. Jutsukawa K, Ring J, Weyer U, Kimming W, Radloff H. Topical cyclosporine in chronic benign familial pemphigus (Hailey-Hailey disease). J Am Acad Dermatol, 1992; 27: 625–631

    Google Scholar 

  117. Sire DJ, Johnson BL. Benign familial chronic pemphigus treated with dapsone. Arch Dermatol, 1971; 103: 262–270

    PubMed  CAS  Google Scholar 

  118. Il’in II, Molochov VA. The photo chemotherapy of Hailey-Hailey disease. Vestn Dermatol Venerol, 1990; 7: 64–70

    PubMed  Google Scholar 

  119. Aubert JP, Folchetti G, Berbis P, Magalon G. Surgical treatment of Hailey-Hailay disease or benign familial chronic pemphigus. A proposd case of submammary localization. Ann Chir Plast Esthet 1993; 38: 568–572

    PubMed  CAS  Google Scholar 

  120. Kartamaa M, Reitamo S Familial benign chronic pemphigus (Hailey-Hailey disease). Treatment with carbon dioxide laser vaporisation. Arch Dermatol 1992; 128: 646–651

    PubMed  CAS  Google Scholar 

  121. Hamm H, Metze D, Brocker EB. Hailey-Hailey disease. Eradication by dermabrasion. Arch Dermatol, 1994; 130: 1187

    Google Scholar 

  122. Sasaki T, Arai K, Ono M, et al. Ehlers-Danlos syndrome. A variant characterized by the deficiency of pro-a2 chain of type I procollagen. Arch Dermatol, 1987; 123: 76–79

    PubMed  CAS  Google Scholar 

  123. Pope FM, Komorowska A, Lee KW et al. Ehlers-Danlos syndrome type I with novel dental features. J Oral Pathol, 1992; 21: 418–421

    CAS  Google Scholar 

  124. Barabas GM. The Ehlers-Danlos syndrome. Abnormalities of the enamel, dentine, cementum and the dental pulp: histological examination of 13 teeth from 6 patients. Br Dent J, 1969; 126: 509–512

    PubMed  CAS  Google Scholar 

  125. Abraham PA, Peredja AJ, Carnes WH et al: Marfan syndrome: demonstration of abnormal elastin in aorta. J Clin Invest 1982; 70: 1245–1252

    PubMed  CAS  Google Scholar 

  126. Pope FM. Clinical and genetic heterogeneity of the Marfan syndrome. Curr Prob Dermatol, 1987; 17: 218–225

    Google Scholar 

  127. Pyeritz RE, McKusick VA. Clinical variability in the Marfan syndrom Birth Defects Orig Artic Ser, 1979; 15(5B): 155–178

    CAS  Google Scholar 

  128. Loveman AB, Gordon AM, Fliegelmann MT. Marfan’s syndrome. Arch Dermatol 1963; 87: 428

    Google Scholar 

  129. Pyeritz RE, McKusick VA. Basic defects in the Marfan syndrome. New Eng J Med, 1981; 305: 1011

    PubMed  CAS  Google Scholar 

  130. Silver W, Kuskin L. Marfan’s syndrome: cardiovascular manifestations. Angiology 1987; 29: 262–264

    Google Scholar 

  131. Scully C, Flint SR, Porter SR. Oral diseases. 2nd Ed. Martin Dunitz, London: 1996

    Google Scholar 

  132. Rodriguez Gomez M, Adams R. Neurocutaneous diseases. A practical approach. Boston: Butterworths, 1987

    Google Scholar 

  133. Zeller J, Hovnanian A. La maladie de Von Recklinghausen. Ann Dermatol Venereol, 1992; 119: 405–409

    PubMed  CAS  Google Scholar 

  134. Viskochil D, Buchberg AM, Xu G et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell, 1990; 62: 187–192

    PubMed  CAS  Google Scholar 

  135. Cawthon RM, Weiss R, Xu Q et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell, 1990; 62: 193–201

    PubMed  CAS  Google Scholar 

  136. Rouleau GA, Merel P, Lutchman M et al. Alteration in a new gene encoding a putative membrane-organizing protein causes neurofibromatosis type 2. Nature, 1993; 515–521

    Google Scholar 

  137. Geist JR, Gander DL, Stefanac SJ. Oral manifestations of neurofibromatosis types I and II. Oral Surg Med Oral Pathol, 1992; 73: 376–82

    CAS  Google Scholar 

  138. Scully C, Flint SR, Porter SR. Oral diseases. 2nd Ed., Martin Dunitz, London: 1996

    Google Scholar 

  139. Demis DJ, Dobson RL, McGuire J. Clinical Dermatology. Philadelphia: Harper & Row Publishers, Unit 12–33,1983, Vol. 2

    Google Scholar 

  140. Reuland-Bosma W, van Dijk J. Periodontal disease in down’s syndrome: a review. J Clin Periodontol, 1986; 13: 64–73

    PubMed  CAS  Google Scholar 

  141. Scully C. Down’s syndrome: aspect of dental care. J Dent, 1976;4: 167–174

    PubMed  CAS  Google Scholar 

  142. Kavanagh GM, Leeming JP, Marshman GM et al. Folliculitis in Down’s syndrome. Br J Dermatol, 1993; 129: 696–99

    PubMed  CAS  Google Scholar 

  143. Scully C, Flint SR, Porter SR. Oral diseases. London: Martin Dunitz, 2nd Ed., 1996

    Google Scholar 

  144. Rodriguez Gomez M, Adams R. Neurocutaneous diseases. A practical approach. Boston: Butterworths 1998

    Google Scholar 

  145. Kwiatkowski DJ, Short P. Tuberous sclerosis. Arch Dermatol, 1994; 130: 348–354

    PubMed  CAS  Google Scholar 

  146. Caballero LR, Robles JLD, Caballero CR et al. Tooth pits: an early sign of tuberous sclerosis. Acta Derm Venereol (Stockh), 1987; 13: 457–9

    Google Scholar 

  147. Scully C. Oral mucosal lesions in association with epilepsy and cutaneous lesions: Pringle-Bourneville syndrome. Int J Oral Surg, 1981; 68–72

    Google Scholar 

  148. Monaghan HP, Krafchick BP, Mac Gregor DL et al. Tuberous sclerosis complex in children. Am J Dis Child, 1981; 135: 912–917

    PubMed  CAS  Google Scholar 

  149. Berberian BJ, Sulica VI, Kao GF. Familia multiple eccrine spiroadenomas with cylindromatous features associated with epithelioma adenoides cysticum of Brooke. Cutis, 1990; 46: 46–50

    PubMed  CAS  Google Scholar 

  150. Tucker MA, Mariman EC, Starink TM, Ponder BA, Ropers HH, Kremer H, Longy M, Eng C. Localization of the gene for Cowden disease to chromosome 1oq22–23. Nat Genet, 1996; 13: 114–6

    PubMed  Google Scholar 

  151. Mignogna MD, Lo Muzio L, Ruocco V, Bucci E. Early diagnosis of multiple harmatoma and neoplasia syndrome (Cowden disease). The role of the dentist. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 1995; 79(3): 295–9

    PubMed  CAS  Google Scholar 

  152. Hanssen AM, Fryns JP. Cowden syndrome. J Med Genet, 1995; 32: 117–9

    PubMed  CAS  Google Scholar 

  153. Mallory SB. Cowden syndrome (multiple hamartoma syndrome). Dermatol Clin 1995; 13: 27–31

    PubMed  CAS  Google Scholar 

  154. Kousseff BG. Multiple endocrine neoplasia 2 (MEN 2)/ MEN 2A (Sipple syndrome). Dermatol Clin 1995; 13: 91–7

    PubMed  CAS  Google Scholar 

  155. Shimkets R, Gailani MR, Siu VM, Yang Feng T, Pressman CL, Levanat S, Goldstein A, Dean M, Bale AE. Molecular analysis of chromosome 9q deletions in two Gorlin syndrome patients. Am J Hum Genet, 1996; 59(2): 417–22

    PubMed  CAS  Google Scholar 

  156. Kanekura T, Kanzaki T, Kanekura S, Kawahara K, Nakashima T, Kitajima I, Maruyama I. p53 gene mutations in skin cancers with underlying disorders. J Dermatol Sci, 1995; 9: 209–14

    PubMed  CAS  Google Scholar 

  157. Gorlin RJ. Nevoid basal cell carcinoma syndrome. Dermatol, Clin 1995; 13(1): 113–25

    CAS  Google Scholar 

  158. Rees J. Genetic alterations in non-melanoma skin cancer. J Invest Dermatol, 1994; 103(6): 747–50

    PubMed  CAS  Google Scholar 

  159. Wicking C, Berkman J, Wainwright B, Chenevix Trench G. Fine genetic mapping of the gene for nevoid basal cell carcinoma syndrome. Genomics, 1994; 22(3): 505–11

    PubMed  CAS  Google Scholar 

  160. Bale AE, Gailani MR, Leffell DJ. Nevoid basal cell carcinoma syndrome. J Invest Dermatol, 1994; 103: 126S–130S

    PubMed  CAS  Google Scholar 

  161. Farndon PA, Del Mastro RG, Evans DG, Kilpatrick MW. Location of gene for Gorlin syndrome. Lancet 1992; 339: 581–2

    PubMed  CAS  Google Scholar 

  162. Yuwono M, Rossi TM, Fisher JE, Tjota A. Oncogene expression in patients with familial polyposis coli/Gardner’s syndrome. Int Arch Allergy Immunol, 1996; 111(1): 89–95

    PubMed  CAS  Google Scholar 

  163. Ryan JC. Premalignant conditions of the small intestine. Semin Gastrointest Dis, 1996; 7(2): 88–93

    PubMed  CAS  Google Scholar 

  164. Davies DR, Armstrong JG, Thakker N, Horner K, Guy SP, Clancy T, Sloan P, Blair V, Dodd C, Warnes TW. Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene. Am J Hum Genet, 1995; 57(5): 1151–8

    PubMed  CAS  Google Scholar 

  165. Cohen MM Jr. Perspectives on craniofacial asymmetry. VI. The hamartoses. Int J Oral Maxillofac Surg, 1995; 24(3): 195–200

    PubMed  Google Scholar 

  166. Narisawa Y, Kohda H. Cutaneous cysts of Gardner’s syndrome are similar to follicular stem cells. J Cutan Pathol, 1995; 22(2): 115–21

    PubMed  CAS  Google Scholar 

  167. Luk GD. Diagnosis and therapy of hereditary polyposis syndromes. Gastroenterologist 1995; 3(2): 153–67

    PubMed  CAS  Google Scholar 

  168. Ko FY, Wu TC, Hwang B. Intestinal polyps in children and adolescents — a review of 103 cases. Acta Paediatr Sin, 1995; 36(3): 197–202

    PubMed  CAS  Google Scholar 

  169. Perniciaro C. Gardner’s syndrome. Dermatol Clin, 1995; 13(1): 51–6

    PubMed  CAS  Google Scholar 

  170. Tan SY, Pepys MB. Amyloidosis. Histopathology, 1994; 25(5):403–414

    PubMed  CAS  Google Scholar 

  171. Adle-Biassette H, Vallat AB, Nochy D. Amyloidosis: definition and classification. Arch Anat Cytol Pathol, 1996; 44(2–3): 101–105

    PubMed  CAS  Google Scholar 

  172. Kerner MM, Wang MB, Angier G, Calcaterra TC, Ward PH. Amyloidosis of the head and neck. A clinicopathologic study of the UCLA experience, 1955–1991. Arch Otolaryngol Head Neck Surg, 1995; 121(7): 778–782

    PubMed  CAS  Google Scholar 

  173. Reinish EI, Raviv M, Srolovitz H, Gornitsky M. Tongue, primary amyloidosis, and multiple myeloma. Oral Surg Oral Med Oral Pathol, 1994; 77(2): 121–125

    PubMed  CAS  Google Scholar 

  174. Bellotti V, Merlini G. Current concepts on the pathogenesis of systemic amyloidosis. Nephrol Dial Transplant, 1996; 11 (suppl. 9): 53–62

    PubMed  Google Scholar 

  175. Dupond JL, de Wazières B, Saile R, Closs F, Viennet G, Kantelip E, Fest T, Vuitton DA. Systemic amyloidosis in the elderly: diagnostic value of the test of subcutaneous abdominal fat and the labial salivary glands. Prospective study in 100 aged patients. Rev Med Interne, 1995; 16(5): 314–317

    PubMed  CAS  Google Scholar 

  176. Micali G. Lipoid proteinosis. In: Buyse ML (Ed). Birth defects encyclopedia. Oxford: Blackwell Scientific Publication, 1990;1563–1564

    Google Scholar 

  177. Fabrizi G et al: Urbach-Wiethe disease: light and electron microscopic study. J Cutan Pathol, 1980; 7: 8–20

    PubMed  CAS  Google Scholar 

  178. Chaudhary SJ, Dayal PK. Hyalinosis cutis et mucosae. Review with a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 1995; 80(2): 168–171

    PubMed  CAS  Google Scholar 

  179. Muda AO, Paradisi M, Angelo C, Mostaccioli S, Atzori F, Puddu P, Faraggiana T. Lipoid proteinosis: clinical, histologic, and ultrastructural investigations. Cutis, 1995; 56(4): 220–224

    PubMed  CAS  Google Scholar 

  180. Disdier P, Harlé JR, Andrac L, Swiader L, Weiller PJ. Specific xerostomia during Urbach-Wiethe disease. Dermatology, 1994; 188(1): 50–51

    PubMed  CAS  Google Scholar 

  181. Cinaz P, Guvenir T, Gonlusen G. Lipoid proteinosis: Urbach-Wiethe disease. Acta Paediatr, 1993; 82(10): 892–893

    CAS  Google Scholar 

  182. Fang-Kircher S. Mucopolysaccharidoses: current aspects of diagnosis and therapy. Wien Klin Wochenschr, 1995; 107(22): 698–701

    PubMed  CAS  Google Scholar 

  183. Warzok R, Seidlitz G. Mucopolysaccharidoses. Genetics, clinical pathology, therapeutic regimes. Zentralbl Pathol, 1992; 138(3): 226–234

    PubMed  CAS  Google Scholar 

  184. Roberts MW, Barton NW, Constantopoulos G, Butler DP, Donahue AH. Occurrence of multiple dentigerous cysts in a patient with the Maroteaux-Lamy syndrome (mucopolysaccharidois, type VI). Oral Surg Oral Med Oral Pathol, 1984; 58(2): 169–175

    PubMed  CAS  Google Scholar 

  185. Downs AT, Crisp T, Ferretti G. Hunter’s syndrome and oral manifestations: a review. Pediatr Dent, 1995; 17(2): 98–100

    PubMed  CAS  Google Scholar 

  186. Gritli-Linde A, Linde A, Goldberg M Morphological alterations in dental and periodontal tissues in murine mucopolysaccharidosis type VII. Calcif Tissue Int, 1995; 57(3): 178–184

    PubMed  CAS  Google Scholar 

  187. Sheridan O, Wortman J, Harvey C, Hayden J, Haskins M. Craniofacial abnormalities in animal models of mucopolysaccharidoses I, VI, and VII. J Craniofac Genet Dev Biol, 1994; 14(1): 7–15

    PubMed  CAS  Google Scholar 

  188. Cleary MA, Wraith JE. The presenting features of mucopolysaccharidosis type IH (Hurler syndrome). Acta Paediatr, 1995; 84(3): 337–339

    PubMed  CAS  Google Scholar 

  189. Morales LE. Gaucher’s disease: a review. Ann Pharmacother, 1996; 30(4): 381–388

    PubMed  CAS  Google Scholar 

  190. Kaminsky P, Belmatoug N, Billette de Villemeur T Maladie de Gaucher. Press Med, 1996; 25(3): 108–112

    CAS  Google Scholar 

  191. Regenye GR, Huberman BA, Itkin AB. Gaucher’s disease: case report of mandibular trauma. Oral Surg Oral Med Oral Pathol, 1992; 73(1): 23–26

    PubMed  CAS  Google Scholar 

  192. Bender IB, Bender AL. Dental observations in Gaucher’s disease: review of the literature and two case reports with 13- and 60-year follow-ups. Oral Surg Oral Med Oral Pathol Oral Radiol Endod, 1996; 82(6): 650–659

    PubMed  CAS  Google Scholar 

  193. Sidransky E, Tayebi N, Ginns EI. Diagnosing Gaucher disease. Early recognition, implications for treatment, and genetic counseling. Clin Pediatr, 1995; 34(7): 365–371

    CAS  Google Scholar 

  194. Ehlen C, Heintges T, Niederau C. Diagnose und Therapie des Morbus Gaucher. Med Klin, 1995; 90(5): 284–290

    CAS  Google Scholar 

  195. Elleder M: Niemann-Pick disease. Pathol Res Pract, 1989; 185(3): 293–328

    PubMed  CAS  Google Scholar 

  196. Graber D, Salvayre R, Levade T. Accurate differentiation of neuronopathic and nonneuronopathic forms of Niemann-Pick disease by evaluation of the effective residual lysosomal sphingomyelinase activity in intact cells. J Neurochem, 1994; 63(3): 1060–1068

    PubMed  CAS  Google Scholar 

  197. Gonzalez de Dios J, Fernandez Tejada E, Diaz Fernandez MC, Ortega Paez E, Hernandez Gonzalez J, de la Vega Bueno A, Hierro Llanillo L, Larrauri Martinez J, Jara Vega P. The current state of Niemann-Pick disease: evaluation of six cases. An Esp Pediatr, 1990; 32(2): 143–148

    Google Scholar 

  198. Touissaint M, Worret WI, Drosner M, Marquardt KH. Specific skin lesions in a patient with Niemann-Pick disease. Br J Dermatol, 1994; 131: 895–897

    Google Scholar 

  199. Van de Vlasakker CJ, Gabreaels FJ, Wijburg HC, Wevers RA. Clöinical features of Niemann-Pick disease type C. An example of the delayed onset, slowly progressive phenotype and an overview of recent literature. Clin Neurol Neurosurg, 1994; 96(2): 119–123

    PubMed  Google Scholar 

  200. Levade T, Salvayre R, Douste-Blazy L. Sphingomyelinases and Niemann-Pick disease. J Clin Chem Clin Biochem, 1986; 24(4): 205–220

    PubMed  CAS  Google Scholar 

  201. Crawford DR, Mirault ME, Moret R, Zbinden I, Cerutti PA. Molecular defect in human acatalasia fibroblasts. Biochem Biophys Res Commun, 1988; 153(1): 59–66

    PubMed  CAS  Google Scholar 

  202. Hirono A, Sasaya-Hamada F, Kanno H, Fujii H, Yoshida T, Miwa S. A novel human catalase mutation (358 T del) causing Japanese-type acatalasemia. Blood Cells Mol Dis, 1995; 21(3): 232–234

    PubMed  CAS  Google Scholar 

  203. Delgado W, Calderòn R. Acatalasis in two Peruvian siblings. J Oral Pathol, 1979; 8(6): 358–368

    PubMed  CAS  Google Scholar 

  204. Ogata M. Acatalasemia. Hum Genet, 1991; 86(4): 331–340

    PubMed  CAS  Google Scholar 

  205. Fink-Puches R, Kainz JT, Kahr A, Urban C, Smolle J, Kerl H. Granulocyte Colony-stimulating factor treatment of cyclic neutropenia with recurrent oral aphthae. Arch Dermatol, 1996; 132: 1399–1400

    PubMed  CAS  Google Scholar 

  206. Guttmacher AE, Marchuk DA, White RI Jr. Hereditary hemorrhagic telangiectasia. N Eng J Med, 1995; 333: 918–924

    CAS  Google Scholar 

  207. McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-ß binding protein of endothelial cells, is the gene for hereditary hemorrhagic telangiectasia type 1. Nature Genetics, 1994; 8: 345–351

    PubMed  CAS  Google Scholar 

Download references

Authors
  1. A. D. Katsambas
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Department of Dermatology, University of Florence, 37, via Alfani, 50121, Florence, Italy

    Torello M. Lotti M.D.

  2. 1819 J.F. Kennedy Boulevard Suite 465, 19103, Philadelphia, PA, USA

    Lawrence Charles Parish M.D., F.A.C.P

  3. Department of Dermatology, Mayo Clinic, 200 First Street SW, 55905-0001, MN, Rochester, USA

    Roy Steele Rogers III M.D.

Rights and permissions

Reprints and permissions

Copyright information

© 1999 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Katsambas, A.D. (1999). Genetic Diseases of Oral Mucosa. In: Lotti, T.M., Parish, L.C., Rogers, R.S. (eds) Oral Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-59821-0_6

Download citation

  • DOI: https://doi.org/10.1007/978-3-642-59821-0_6

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-642-64138-1

  • Online ISBN: 978-3-642-59821-0

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation