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Genetic and Developmental Disorders of the Oral Mucosa: Epidemiology; Molecular Mechanisms; Diagnostic Criteria; Management

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Genetic and Developmental Disorders of the Oral Mucosa: Epidemiology; Molecular Mechanisms; Diagnostic Criteria; Management DOI: 10.1111/prd.12261 REVIEW ARTICLE Genetic and developmental disorders of the oral mucosa: Epidemiology; molecular mechanisms; diagnostic criteria; management Roberto Pinna1 | Fabio Cocco1,2 | Guglielmo Campus1,2,3 | Giulio Conti4 | Egle Milia1 | Andrea Sardella4,5 | Maria Grazia Cagetti2,5 1Department of Surgery, Medicine and Experimental Sciences, University of Sassari, Sassari, Italy 2WHO Collaboration Centre for Epidemiology and Community Dentistry, University of Milan, Milan, Italy 3Klinik für Zahnerhaltung, Präventiv-und Kinderzahnmedizin Zahnmedizinische Kliniken (ZMK), University of Bern, Switzerland 4IRCCS “Ca Granda-Ospedale Maggiore”, University of Milan, Milan, Italy 5Department of Biomedical, Surgical and Dental Science, University of Milan, Milan, Italy Correspondence Guglielmo Campus, Prof Guglielmo Campus Klinik für Zahnerhaltung, Präventiv-und Kinderzahnmedizin Zahnmedizinische Kliniken (ZMK) University of Bern, Freiburgstrasse 7, Bern, Switzerland. Emails: [email protected]; [email protected] 1 | INTRODUCTION exact prevalence is unknown, but the syndrome seems more common among the Amish community. This rare condition is inherited as an Oral mucosal lesions may appear as ulcers, color changes and altera- autosomal recessive trait with a variable expression. Mutations of the tions in size and configuration of oral anatomy. This review presents Ellis van Creveld protein 1 and 2 genes, located in a head- to- head con- a broad overview of genetic and developmental disorders of the figuration on chromosome 4p16, have been identified as causative.6,7 oral mucosa that might be recognized in children, adults and the el- The mutations of Ellis van Creveld belong to the short rib- polydactyly derly.1-3 A number of genetic disorders (Table 1) have specific mani- group and especially type III (Verma- Naumoff syndrome). festations of the oral mucosa caused by a derangement of one or Chondro- ectodermal dysplasia is characterized by the presence of several of the components of the tissue. Many of them follow the short ribs, polydactyly, growth retardation and ectodermal and cardiac skin or systemic signs of the underlying genetic disease, but in a few defects. The most constant oral findings are fusion of the upper or cases, oral signs represent the first manifestation of the disorder. lower lip to the gingiva and hypertrophy of the labiogingival fraenum, Disorders during embryonic development (Table 2) might lead to resulting in the disappearance of the mucolabial fold, or the presence of a wide range of abnormalities in the oral cavity; some of them are multiple fibrous bands. Oligodontia and small conical teeth with enamel quite common but of negligible concern, whereas others are rare but hypoplasia are also present.8 The differential diagnosis from similar serious, affecting not only the oral mucosa, but also other structures chondrodystrophies, such as Jeune dystrophy, McKusick- Kaufman of the oral cavity (ie palate, tongue and gingiva). syndrome, includes oro- facial- digital syndrome, and Weyers acroden- tal dysostosis.5,9-11 The oral dental management is quite complex and often requires a multidisciplinary approach to correct the dental de- 2 | GENETIC DISORDERS fects. Orthodontics and maxillofacial oral surgery are often involved in the treatment; moreover, comprehensive restorative treatment is fun- 2.1 | Genodermatoses damental to manage enamel hypoplasia and to replace missing teeth.10 2.1.1 | Chondro- ectodermal dysplasia 2.1.2 | Dyskeratosis congenita Chondro- ectodermal dysplasia, also termed Ellis- van Creveld syn- drome, is a rare disease first described in 1940 by Ellis & van Creveld.4 Dyskeratosis congenita or Zinsser- Engman- Cole syndrome is a multi- Approximately 150 cases have been reported worldwide to date.5 The system disorder,12 first described by Zinsser in 1906 and recognized 12 | © 2019 John Wiley & Sons A/S. wileyonlinelibrary.com/journal/prd Periodontology 2000. 2019;80:12–27. Published by John Wiley & Sons Ltd PINNA ET AL. | 13 TABLE 1 Genetic disorders 2.1.3 | Ehlers- Danlos syndrome Genodermatoses Other genetic disorders Ehlers- Danlos syndrome is a group of connective tissue disor- • Chondro-ectodermal dysplasia • Acanthosis nigricans ders20 inherited as an autosomal dominant, autosomal recessive • Dyskeratosis congenita • Angio-osteo-hypertrophic or X- linked recessive trait. It was first described by Edvard Ehlers, • Ehlers-Danlos syndrome syndrome • Hereditary benign intraepithelial • Encephalotrigeminal a Danish dermatologist, in 1901 and a few years later in 1908 by dyskeratosis angiomatosis Henri- Alexandre Danlos, a French dermatologist.21 The preva- • Keratosis follicularis • Familial adenomatous lence is between 1:5000 and 1:10 000, but the epidemiology of • Lipoid proteinosis polyposis the specific types is largely unknown.20 The various types of the • Multiple hamartoma syndrome • Focal dermal hypoplasia • Pachyonychia congenita • Focal palmoplantar and syndromes are clinically and genetically heterogeneous, result- • Peutz-Jeghers syndrome oral mucosa hyperkerato- ing from defects in either the synthesis or the structure of fibril- • Tuberous sclerosis sis syndrome lar collagen.22,23 Although the basic defect is not well known, the • White sponge nevus • Gingival fibromatosis three fundamental mechanisms of disease include deficiencies of • Maffucci’s syndrome • Neurofibromatosis (type collagen- processing enzymes, dominant negative effects of mu- 1) tant collagen chains and haploinsufficiency.24 Defects in either • Oro-facial-digital collagen- processing enzymes or collagen structure are ubiquitous syndrome (type 1) in all subtypes of the disease, leading to collagen fragility through- out the body. The oral mucosa is excessively fragile and subject TABLE 2 Developmental disorders to bruising. Gingival bleeding and periodontitis are common.25 Wound healing may only be slightly delayed. Tooth mobility is not Oral mucosa Gingiva Tongue increased,26 although a hypermobility of the temporomandibular • Cysts of the • Retrocuspid • Geographic tongue joint may occur.21,27 Approximately 50% of patients have the abil- oral mucosa in papilla • Fissured tongue newborns • Median rhomboid ity to touch their nose with the tip of the tongue (Gorlin's sign) • Fordyce′s glossitis compared with 10% of the normal population.25,28 The differential granules • Hairy tongue diagnosis includes cutis laxa, Marfan's syndrome, Marfanoid hy- • Leukoedema • Lingual varices permobility syndrome and osteogenesis imperfecta. Oral manifes- • Lingual thyroid nodule tation includes periodontitis and oral mucosal ulceration. There is no definitive treatment for the syndrome. as a clinical entity by Engman & Cole.13 Dyskeratosis congenita is a rare disease with an estimated annual incidence of less than one per 2.1.4 | Hereditary benign intraepithelial million population.14 The most common mode of inheritance is the dyskeratosis X- linked recessive form, which affects mainly males and is caused by mutation of the DKC1 gene at the Xq28 site.15 It is characterized Hereditary benign intraepithelial dyskeratosis is a rare autosomal by hyperpigmentation, telangiectasias and atrophic areas of the skin dominant disorder that was first described by Von Sallmann & Paton (usually on the face, neck and chest), dystrophic nails, hyperhidrosis, in 1959. 29,30 The disorder occurs almost exclusively in members of dermal and mucosal bullae, blepharitis, ectropion, aplastic anemia, the Native American Haliwa- Saponi tribe (formerly referred to as mental handicap and oral manifestations.12,13,15 The oral lesions con- Haliwa Indians) or descendants of them. Several additional cases sist of aggregates or recurrent blisters that rupture, leaving a raw ul- were described in persons who reside in the northeastern part of cerated surface mainly on the tongue and buccal mucosa.16 Atrophy North Carolina.31 Some cases were also reported in Italy, England, of the oral mucosa is the result of repeated episodes. Leukoplakia is Germany and Brazil.32,33 generally seen in the oral mucosa.17,18 These lesions are considered to A segment of DNA localized at 4q35 is duplicated, resulting be potentially malignant, with a malignant transformation rate of up in triple alleles for two linked markers, suggesting that gene du- to 35% of the cases in 10- 30 years.16 Differential diagnosis includes plication is responsible for the disorder. The disease affects the palmoplantar keratoderma- spastic paralysis syndrome, nail- patella oral mucosa and bulbar conjunctiva, with onset usually at birth or syndrome, twenty- nail dystrophy, poikiloderma with neutropenia, early childhood.32 The oral lesions usually appear as thick, soft, Fanconi anemia, Diamond- Blackfan anemia, Shwachman- Diamond white, asymptomatic papules and plaques with varying sizes and anemia, idiopathic aplastic anemia, idiopathic pulmonary fibrosis, can involve any part of the oral cavity.34 Milder cases may ex- Coats plus syndrome.19 hibit the opalescent appearance of leukoedema. Some of these Dental management is supportive, but the leukoplakic lesions appearances may be due to a superimposed Candida spp. infec- require frequent close monitoring (usually once every 3 months) and tion.33 The differential diagnosis includes white sponge nevus a biopsy of suspicious areas in order to detect possible oral cancer. due to the similarity of the clinical appearance of lesions. No Surgical removal of dysplastic lesions may reduce the risk of malig- treatment is recommended
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