Oral genodermatoses

Akshat Sachdeva, Sumit Bhateja, Geetika Arora


Genodermatoses alludes to a set of inherited dermatologic disorders. A significant variety of these disorders is unusual and present with oral indications called oral genodermatoses. They typically present with multisystem association prompting an expanded tempo of morbidity and mortality. The oral findings maybe perhaps distinct and may offer the primary clue of underlying genetic disorder. The present article discusses various genodermatomes presenting with oral manifestations and an approach to the diagnosis of these disorders.

Keywords: Genodermatoses, Dermatologic features, Oral manifestations, Genetics.

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Kumar K, Shilpasree AS, Chaudhary M. Oral Manifestations and Molecular Basis of Oral Genodermatoses: A Review. J Clin Diagn Res 2016; 10(5):08-12.

Kavya S, Vandana S, Paulose S, Rangdhol V, Baliah WJ, Dhanraj T. Oral manifestation of genodermatoses. J Med, Radiol, Pathol Surg 2017; 4(3):22-7.

Arora M, Mane D. A Proposed Classification to Identify the Oral Manifestations of Genodermatoses. J Coll Physicians Surg Pak 2016;26(7):636-7.

Irvine AD, Mellerio JE. Genetics and genodermatoses. In: Burns T, Breathnach S, Cox N, Griffiths C, editors. Rook’s Textbook of Dermatology. 8th ed. Oxford: Blackwell Science; 2010. p. 15.1-15.97.

Babu NA, Rajesh E, Krupaa J, Gnananandar. Genodermatoses. J Pharm Bioall Sci 2015;7:5203-6.

McGrath JA, Mellerio JE. Epidermolysis bullosa. Br J Hosp Med. (Lond). 2006; 67(4):188-91.

Andreasen JO, Hjorting-Hansen E, Ulmansky M, Pindborg JJ. Milia formation in oral lesions in epidermolysis bullosa. Acta Pathol Microbiol Scand 1965;63:37-41.

Kitagawa S, Townsend BL, Hebert AA. Peutz-Jeghers’ syndrome. Dermatol Clin 1995;13(1):127-31.

McGarrity TJ, Amos C. Peutz-Jeghers syndrome: clinicopathology and molecular alterations. Cell Mol Life Sci 2006;63(18):2135-44.

Gavren BA, Lumerman H, Cardo VA, Schmidt BL. Multiple pigmented lesions of the lower lip. J Oral Maxillofac Surg 2002;60(4):438-45.

McGarrity TJ, Amos C. Peutz-Jeghers syndrome: clinicopathology and molecular alterations. Cell Mol Life Sci 2006;63(18):2135-44.

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

Harton GL, Tsipouras P, Sisson ME, Starr KM, Mahoney BS, Fugger EF, et al. Preimplantation genetic testing for Marfan syndrome. Mol Hum Reprod 1996;2(9):713–5.

Gardner EJ. A genetic and clinical study of intestinal polyposis, a predisposing factor for carcinoma of the colon and rectum. Am J Hum Genet 1951; 3(2):167–76.

Ida M, Nakamura T, Utsunomiya J. Osteomatous changes and tooth abnormalities found in the jaws of patients with adenomatosis coli. Oral Surg Oral Med Oral Pathol 1981;52(1):2-11.

Schenberg ME, Zajac JD, Lim-Tio S, Collier NA, Brooks AM, Reade PC. Multiple endocrine neoplasia type 2b. Int J Oral Maxillofac Surg 1992; 21(2):110-4.

Eng C, Hampel H, De la Chapelle A. Gene testing for cancer predisposition. Annu Rev Med 2001;52:371-400.

Hildebrand C, Burgdorf WH, Lautenschlager S. Cowden syndrome- diagnostic skin signs. Dermatol 2001; 202(4):362-6.

Uhlmann EJ, Plotkin SR. Neurofibromatoses. Adv Exp Med Biol 2012;724:266-77.

Cherrick HM, Eversole LR. Benign neural sheath neoplasm of the oral cavity. Report of 37 cases. Oral Surg Oral Med Oral Pathol 1971; 32(6):900-09.

Vulliamy T, Marrone A, Goldman F, Dearlove A, Bessler M, Mason PJ et al. The RNA component of telomerase is mutated in autosomal dominant dyskeratosis congenita. Nat 2001;413(6854):432–5.

Handley TP, McCaul JA, Ogden GR. Dyskeratosis congenita. Oral Oncol 2006;42(4):331-6.

Bartolucci EG, Swan RH, Hurt WC. Oral manifestations of hereditary hemorrhagic talengiectasia. Rev Case Rep J Periodontal. 1982;53(3):163-7.

Morrison PJ, Nevin NC. Multiple endocrine neoplasia type IIB (mucosal neuroma syndrome or wagen-mann froboese syndrome). J Med Genet 1996;33(9):779-82.

Tentcheva-Poor I, Oji V, Has C. A multistep approach to the diagnosis of rare genodermatoses. J Ger Soc Dermatol 2016;14(10):969-86.

Guttmacher A, Collins FS, Carmona RH. The family history – more important than ever. N Engl J Med 2004;351:2333–6.

Inamadar AC, Palit A. Nails: Diagnostic clue to genodermatoses. Indian J Dermatol Venereol Leprol 2012;78:271-8.


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