Oral Manifestations and Molecular Basis of Oral Genodermatoses: A Review

Overview

Journal J Clin Diagn Res

Specialty General Medicine

Date 2016 Jul 21

PMID 27437377

Citations 2

Authors

Kiran Kumar

A S Shilpasree

Meenakshi Chaudhary

Affiliations

Soon will be listed here.

Abstract

Genodermatoses refers to group of inherited monogenic disorders with skin manifestations. Many of these disorders are rare and also have oral manifestations, called oral genodermatoses. This article provides a focused review of molecular basis of important genodermatoses that affects the oral cavity and also have prominent associated dermatologic features. In several conditions discussed here, the oral findings are distinct and may provide the first clue of an underlying genetic diagnosis. The article also emphasises on the prenatal diagnosis, genetic counselling and the treatment oral genodermatoses.

Citing Articles

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Spectrum of features in Darier's disease: A case report with emphasis on differential diagnosis.

V S, S S, B K Y, N R, T P, R P J Oral Biol Craniofac Res. 2019; 9(2):215-220.

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References

Buratti E, Baralle D . Exon skipping mutations in neurofibromatosis. Methods Mol Biol. 2012; 867:65-76. DOI: 10.1007/978-1-61779-767-5_5. View

Uhlmann E, Plotkin S . Neurofibromatoses. Adv Exp Med Biol. 2012; 724:266-77. DOI: 10.1007/978-1-4614-0653-2_20. View

Handley T, McCaul J, Ogden G . Dyskeratosis congenita. Oral Oncol. 2005; 42(4):331-6. DOI: 10.1016/j.oraloncology.2005.06.007. View

Boardman L, Thibodeau S, Schaid D, Lindor N, McDonnell S, Burgart L . Increased risk for cancer in patients with the Peutz-Jeghers syndrome. Ann Intern Med. 1998; 128(11):896-9. DOI: 10.7326/0003-4819-128-11-199806010-00004. View

Thyresson H, Doyle J . Cowden's disease (multiple hamartoma syndrome). Mayo Clin Proc. 1981; 56(3):179-84. View

Welbury R . Ehlers-Danlos syndrome: historical review, report of two cases in one family and treatment needs. ASDC J Dent Child. 1989; 56(3):220-4. View

Burgdorf W . Cancer-associated genodermatoses: a personal history. Exp Dermatol. 2006; 15(9):653-66. DOI: 10.1111/j.1600-0625.2006.00463.x. View

Ida M, Nakamura T, Utsunomiya J . Osteomatous changes and tooth abnormalities found in the jaw of patients with adenomatosis coli. Oral Surg Oral Med Oral Pathol. 1981; 52(1):2-11. DOI: 10.1016/0030-4220(81)90164-x. View

Hiremagalore R, Nizamabad N, Kamasamudram V . Molecular diagnostics in genodermatoses - simplified. Indian J Dermatol Venereol Leprol. 2008; 74(1):8-14. DOI: 10.4103/0378-6323.38399. View

10.

Gavren B, Lumerman H, Cardo V, Schmidt B . Multiple pigmented lesions of the lower lip. J Oral Maxillofac Surg. 2002; 60(4):438-45. DOI: 10.1053/joms.2002.31233. View

11.

Gnepp D, Keyes G . Central neurofibromas of the mandible: report of two cases. J Oral Surg. 1981; 39(2):125-7. View

12.

McGrath J, Mellerio J . Epidermolysis bullosa. Br J Hosp Med (Lond). 2006; 67(4):188-91. DOI: 10.12968/hmed.2006.67.4.20864. View

13.

Dietz H, Loeys B, Carta L, Ramirez F . Recent progress towards a molecular understanding of Marfan syndrome. Am J Med Genet C Semin Med Genet. 2005; 139C(1):4-9. DOI: 10.1002/ajmg.c.30068. View

14.

Luu M, Cantatore-Francis J, Glick S . Prenatal diagnosis of genodermatoses: current scope and future capabilities. Int J Dermatol. 2010; 49(4):353-61. DOI: 10.1111/j.1365-4632.2010.04344.x. View

15.

Schenberg M, Zajac J, Collier N, Brooks A, Reade P . Multiple endocrine neoplasia syndrome--type 2b. Case report and review. Int J Oral Maxillofac Surg. 1992; 21(2):110-4. DOI: 10.1016/s0901-5027(05)80545-4. View

16.

Harton G, Tsipouras P, Sisson M, Starr K, Mahoney B, Fugger E . Preimplantation genetic testing for Marfan syndrome. Mol Hum Reprod. 1996; 2(9):713-5. DOI: 10.1093/molehr/2.9.713. View

17.

Walne A, Vulliamy T, Marrone A, Beswick R, Kirwan M, Masunari Y . Genetic heterogeneity in autosomal recessive dyskeratosis congenita with one subtype due to mutations in the telomerase-associated protein NOP10. Hum Mol Genet. 2007; 16(13):1619-29. PMC: 2882227. DOI: 10.1093/hmg/ddm111. View

18.

Eng C, Hampel H, de la Chapelle A . Genetic testing for cancer predisposition. Annu Rev Med. 2001; 52:371-400. DOI: 10.1146/annurev.med.52.1.371. View

19.

Kitagawa S, Townsend B, Hebert A . Peutz-Jeghers syndrome. Dermatol Clin. 1995; 13(1):127-33. View

20.

Lakhani V, You Y, Wells S . The multiple endocrine neoplasia syndromes. Annu Rev Med. 2006; 58:253-65. DOI: 10.1146/annurev.med.58.100305.115303. View