{"id":398,"date":"2021-11-11T15:53:53","date_gmt":"2021-11-11T15:53:53","guid":{"rendered":"https:\/\/opmdcare.com\/?p=398"},"modified":"2022-04-08T16:22:12","modified_gmt":"2022-04-08T16:22:12","slug":"genetic-conditions","status":"publish","type":"post","link":"https:\/\/opmdcare.com\/genetic-conditions\/","title":{"rendered":"Genetic Conditions"},"content":{"rendered":"\n
Of the many genetic cancer syndromes described patients with Fanconi anaemia, Dyskeratosis Congenita, xeroderma pigmentosum, Li Fraumeni syndrome, Blooms’s syndrome, ataxia telangiectasia, and Cowden syndrome have shown an increased susceptibility to oral cancer due to genetic instability. <\/p>\n\n\n\n
Fanconi anaemia has the strongest evidence for a predisposition to cancer. Dyskeratosis Congenita (DKC) (also called Zinsser-Cole-Engman syndrome) is a rare hereditary condition with predisposition to oral leukoplakia of the tongue that could transform to cancer in early life.<\/p>\n\n\n\n
In this chapter we describe susceptibility to oral cancer and oral potentially malignant disorders (OPMDs) in two cancer syndromes namely Fanconi anaemia and Dyskeratosis Congenita. OPMDs associated with these 2 syndromes are chronic graft vs host disease (cGVHD) (recently added to the OPMD classification in 2020), oral lichen planus and oral leukoplakia. <\/p>\n\n\n\n
CLINICAL FEATURES OF FANCONI ANAEMIA <\/strong> <\/div><\/div>\n\n\n\n Dyskeratosis congenita (DC) is a rare multisystem inherited genodermatosis leading to reduced telemerase function impairing chromosomal stability. Also known as Zinsser-Cole-Engman syndrome, it was first described in 1906 . Telemeres form the ends of chromosomes and telemerase is an enzyme responsible for the synthesis of telomeres. A reduction in or impaired function of telemerase leads to a reduction in genetic material and subsequent activation of \u2018DNA damage response pathways\u2019 resulting in cell death. <\/p>\n\n\n\n Bone marrow failure occurs as the bone marrow is dependent on telomere function due to its high cell turnover. In addition, DC also commonly manifests with mucocutaneous signs, pulmonary and\/or hepatic fibrosis.<\/p>\n\n\n\n <\/div><\/div>\n\n\n\n <\/div><\/div>\n\n\n\n <\/div><\/div>\n\n\n\n Dental Implications:<\/strong><\/em><\/p>\n\n\n\n Malignant Transformation:<\/strong><\/em><\/p>\n\n\n\n <\/div><\/div>\n\n\n\n Aplastic anaemia can be classified into two broad categories; acquired and inherited. The acquired causes include idiopathic, which is the most common cause, drug induced, viral, pregnancy and connective tissue diseases. Inherited causes include Fanconi anaemia, Shwachman- Diamond Syndrome and GATA2 syndrome. Though Fanconi anaemia remains the most common differential diagnosis. <\/p>\n\n\n\n Differential diagnoses oral white lesions involve infective processes such as candidiasis and non-infective causes including oral lichen planus, lichenoid lesions, white sponge naevus, frictional keratosis and graft-versus-host disease GVHD. <\/p>\n\n\n <\/div><\/div>\n\n\n\n
(adapted from Nalepa and Clapp 2018) <\/p>\n\n\n\nDyskeratosis Congenita<\/a><\/h3>
Aetiology<\/a><\/h3>
Epidemiology<\/a><\/h3>
Clinical Presentation<\/a><\/h3>
Oral Manifestations<\/a><\/h3>
Differential diagnosis<\/a><\/h3>