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Review
. 2016 May;10(5):ZE08-12.
doi: 10.7860/JCDR/2016/17647.7751. Epub 2016 May 1.

Oral Manifestations and Molecular Basis of Oral Genodermatoses: A Review

Kiran Kumar  1 , A S Shilpasree  2 , Meenakshi Chaudhary  3
Affiliations
Review

Oral Manifestations and Molecular Basis of Oral Genodermatoses: A Review

Kiran Kumar et al. J Clin Diagn Res. 2016 May.

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.

Keywords: Dermatologic; Features; Genetic counselling; Inherited disorder; Prenatal diagnosis.

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Figures

[Table/Fig-1]:
[Table/Fig-1]:
Scar producing bullae at elbow in epidermolysis bullosa.
[Table/Fig-2]:
[Table/Fig-2]:
Café-au-lait spots in von Recklinghausen disease.
[Table/Fig-3]:
[Table/Fig-3]:
Multiple neurofibromas hanging out of skin in von Recklinghausen disease.
[Table/Fig-4]:
[Table/Fig-4]:
Conical shaped teeth in Gardner’s syndrome.
[Table/Fig-5]:
[Table/Fig-5]:
Cutaneous pigmentations in dyskeratosis.
[Table/Fig-6]:
[Table/Fig-6]:
Leukoplakia on buccal mucosa in patient of dyskeratosis congenita.
[Table/Fig-7]:
[Table/Fig-7]:
Arteriovenous malformations in hemorrhagic telangiectasia.
See this image and copyright information in PMC

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