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Periodontitis

MedGen UID:
45815
Concept ID:
C0031099
Disease or Syndrome
Synonyms: Periodontitides
SNOMED CT: Periodontitis (41565005)
 
HPO: HP:0000704

Definition

Inflammation of the periodontium. [from HPO]

Conditions with this feature

Periodontitis, chronic
MedGen UID:
120593
Concept ID:
C0266929
Disease or Syndrome
Chronic periodontitis, formerly called adult periodontitis, is the most frequently occurring form of periodontitis and is characterized by slowly progressing alveolar bone destruction and attachment loss. Although chronic periodontitis is most prevalent in adults and has a slow progression, it can occur in children and adolescents and may have periods of rapid progression (Armitage, 1999).
Ehlers-Danlos syndrome, type 4
MedGen UID:
82790
Concept ID:
C0268338
Disease or Syndrome
Vascular Ehlers-Danlos Syndrome (vEDS) is characterized by thin, translucent skin; easy bruising; characteristic facial appearance (in some individuals); and arterial, intestinal, and/or uterine fragility. Vascular dissection or rupture, gastrointestinal perforation, or organ rupture are the presenting signs in the majority of adults identified to have vEDS. Arterial rupture may be preceded by aneurysm, arteriovenous fistulae, or dissection but also may occur spontaneously. Neonates may present with clubfoot and/or congenital dislocation of the hips. In childhood, inguinal hernia, pneumothorax, recurrent joint subluxation or dislocation, and bruising can occur. Pregnancy for women with vEDS has an estimated 5.3% risk for death from peripartum arterial rupture or uterine rupture. One fourth of individuals with vEDS, confirmed by laboratory testing, experienced a major complication by age 20 years and more than 80% by age 40 years. The median age of death in this reviewed population was 50 years.
Ehlers-Danlos syndrome, type 8
MedGen UID:
82791
Concept ID:
C0268347
Disease or Syndrome
Ehlers-Danlos syndrome (EDS) is a clinically and genetically heterogeneous group of connective tissue disorders defined by joint laxity and skin alterations that include hyperextensibility, atrophic scarring, and bruising. Periodontal EDS (EDSPD; previously designated 'EDS VIII') is a specific subtype of EDS with autosomal dominant inheritance, in which the defining feature is an EDS phenotype combined with severe periodontal inflammation. In childhood, periodontal inflammation in EDSPD is characterized by extensive gingivitis in response to mild plaque accumulation. In the teens, early-onset periodontitis leads to inflammatory destruction of dental attachment and premature loss of teeth. Other clinical features include pretibial hyperpigmentation, acrogeria, skin and gum fragility, scarring, generalized and/or distal joint hypermobility, and bruising out of proportion to trauma. There are also reports of life-threatening complications such as arterial or gastrointestinal ruptures (summary by Kapferer-Seebacher et al., 2016). Genetic Heterogeneity of Ehlers-Danlos Syndrome, Periodontal Type Ehlers-Danlos syndrome periodontal type 2 (EDSPD2; 617174) is caused by mutation in the C1S gene (120580) on chromosome 12p13. Reviews Kapferer-Seebacher et al. (2016) tabulated the clinical features of 93 EDSPD patients with mutations in the C1R or C1S genes (77 and 16 patients, respectively) and observed that the most prevalent features included early-onset periodontitis, gingival recessions, and thin gingiva and/or absence of attached gingiva. Easy bruising was present in most patients, as were pretibial hyperpigmentation, skin fragility, and mildly elastic skin. About half of patients exhibited atrophic scars or wide scarring and/or prominent vasculature. Joint hypermobility was not a consistent finding, and if present was mild and often limited to small joints. Other variable features included recurrent infections, joint pain, flat feet, marfanoid facial features, scoliosis, osteoarthritis, and hernias. A minority of patients had joint dislocations; aneurysms occurred in 4 families, and autoimmune disorders occurred in 1 family. Cancer appeared to be more prevalent in patients with C1S mutations.
Leukocyte adhesion deficiency type 1
MedGen UID:
98310
Concept ID:
C0398738
Disease or Syndrome
Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.
Congenital disorder of glycosylation type 2C
MedGen UID:
96022
Concept ID:
C0398739
Disease or Syndrome
Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (212065) and CDG2A (212066). The neutrophil defect in CDG2C has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), which is a manifestation of the disorder; there are no cases of 'primary' LAD II (Frydman, 1996). Etzioni and Harlan (1999) provided a comprehensive review of both LAD1 (116920) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.
Kindler syndrome
MedGen UID:
96060
Concept ID:
C0406557
Disease or Syndrome
Kindler syndrome (KS), a rare subtype of inherited epidermolysis bullosa, is characterized by skin fragility and acral blister formation beginning at birth, diffuse cutaneous atrophy, photosensitivity (which is most prominent during childhood and usually decreases after adolescence), poikiloderma, diffuse palmoplantar hyperkeratosis, and pseudosyndactyly. Mucosal manifestations are also common and include hemorrhagic mucositis and gingivitis, periodontal disease, premature loss of teeth, and labial leukokeratosis. Other mucosal findings can include ectropion, esophageal strictures/stenosis, anal stenosis, colitis, urethral stenosis/strictures, and severe phimosis. Severe long-term complications of KS include periodontitis, mucosal strictures, and aggressive squamous cell carcinomas. Manifestations can range from mild to severe.
Geroderma osteodysplastica
MedGen UID:
98149
Concept ID:
C0432255
Disease or Syndrome
Hermansky Pudlak syndrome 2
MedGen UID:
374912
Concept ID:
C1842362
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants inAP3B1andAP3D1.
Alopecia, epilepsy, pyorrhea, mental subnormality
MedGen UID:
350833
Concept ID:
C1863090
Disease or Syndrome
Plasminogen deficiency, type I
MedGen UID:
369859
Concept ID:
C1968804
Disease or Syndrome
Congenital plasminogen deficiency is a rare autosomal recessive disorder characterized clinically by chronic mucosal pseudomembranous lesions consisting of subepithelial fibrin deposition and inflammation. The most common clinical manifestation is ligneous ('wood-like') conjunctivitis, a redness and subsequent formation of pseudomembranes mostly on the palpebral surfaces of the eye that progress to white, yellow-white, or red thick masses with a wood-like consistency that replace the normal mucosa. The lesions may be triggered by local injury and/or infection and often recur after local excision. Pseudomembranous lesions of other mucous membranes often occur in the mouth, nasopharynx, trachea, and female genital tract. Some affected children also have congenital occlusive hydrocephalus. A slightly increased female:male ratio has been observed (1.4:1 to 2:1) (Schuster and Seregard, 2003; Tefs et al., 2006). Type I plasminogen deficiency is characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and clinical symptoms, whereas type II plasminogen deficiency, also known as 'dysplasminogenemia,' is characterized by decreased plasminogen activity with normal or slightly reduced antigen levels. Patients with type II deficiency are usually asymptomatic. Ligneous conjunctivitis and pseudomembranous formation has only been associated with type I plasminogen deficiency. Presumably, normal amounts of plasminogen antigen with decreased activity, as seen in type II, is sufficient for normal wound healing (Schuster and Seregard, 2003).
Chronic familial neutropenia
MedGen UID:
384521
Concept ID:
C2267231
Disease or Syndrome

Recent clinical studies

Etiology

Wang HY, Lin L, Fu W, Yu HY, Yu N, Tan LS, Cheng JW, Pan YP
BMC Complement Altern Med 2017 Aug 29;17(1):426. doi: 10.1186/s12906-017-1931-9. PMID: 28851350Free PMC Article
Meuric V, Le Gall-David S, Boyer E, Acuña-Amador L, Martin B, Fong SB, Barloy-Hubler F, Bonnaure-Mallet M
Appl Environ Microbiol 2017 Jul 15;83(14) Epub 2017 Jun 30 doi: 10.1128/AEM.00462-17. PMID: 28476771Free PMC Article
Song SJ, Lee SS, Han K, Park JB
Endocrine 2017 Apr;56(1):82-89. Epub 2016 Dec 28 doi: 10.1007/s12020-016-1215-z. PMID: 28032209
Unriza-Puin S, Bautista-Molano W, Lafaurie GI, Valle-Oñate R, Chalem P, Chila-Moreno L, Bello-Gualtero JM, Romero-Sánchez C
Clin Rheumatol 2017 Apr;36(4):799-806. Epub 2016 Dec 28 doi: 10.1007/s10067-016-3519-z. PMID: 28028684
Kwon YJ, Jeon KJ, Chung TH, Lee YJ
Oral Dis 2017 Mar;23(2):241-246. Epub 2016 Nov 28 doi: 10.1111/odi.12601. PMID: 27783850

Diagnosis

Rzeznik M, Triba MN, Levy P, Jungo S, Botosoa E, Duchemann B, Le Moyec L, Bernaudin JF, Savarin P, Guez D
PLoS One 2017;12(8):e0182767. Epub 2017 Aug 24 doi: 10.1371/journal.pone.0182767. PMID: 28837579Free PMC Article
Han K, Park JB
Medicine (Baltimore) 2017 Aug;96(33):e7835. doi: 10.1097/MD.0000000000007835. PMID: 28816984Free PMC Article
Meuric V, Le Gall-David S, Boyer E, Acuña-Amador L, Martin B, Fong SB, Barloy-Hubler F, Bonnaure-Mallet M
Appl Environ Microbiol 2017 Jul 15;83(14) Epub 2017 Jun 30 doi: 10.1128/AEM.00462-17. PMID: 28476771Free PMC Article
Unriza-Puin S, Bautista-Molano W, Lafaurie GI, Valle-Oñate R, Chalem P, Chila-Moreno L, Bello-Gualtero JM, Romero-Sánchez C
Clin Rheumatol 2017 Apr;36(4):799-806. Epub 2016 Dec 28 doi: 10.1007/s10067-016-3519-z. PMID: 28028684
Lee YT, Lee HC, Hu CJ, Huang LK, Chao SP, Lin CP, Su EC, Lee YC, Chen CC
J Am Geriatr Soc 2017 Feb;65(2):301-305. Epub 2016 Sep 29 doi: 10.1111/jgs.14449. PMID: 27685603

Therapy

Chin YT, Cheng GY, Shih YJ, Lin CY, Lin SJ, Lai HY, Whang-Peng J, Chiu HC, Lee SY, Fu E, Tang HY, Lin HY, Liu LF
Ann N Y Acad Sci 2017 Sep;1403(1):101-108. Epub 2017 Aug 30 doi: 10.1111/nyas.13433. PMID: 28856691
Wang HY, Lin L, Fu W, Yu HY, Yu N, Tan LS, Cheng JW, Pan YP
BMC Complement Altern Med 2017 Aug 29;17(1):426. doi: 10.1186/s12906-017-1931-9. PMID: 28851350Free PMC Article
Äyräväinen L, Leirisalo-Repo M, Kuuliala A, Ahola K, Koivuniemi R, Meurman JH, Heikkinen AM
BMJ Open 2017 Jan 31;7(1):e011916. doi: 10.1136/bmjopen-2016-011916. PMID: 28143836Free PMC Article
Park JA, Lee JH, Lee HJ, Jin BH, Bae KH
Biol Trace Elem Res 2017 Aug;178(2):171-179. Epub 2016 Dec 29 doi: 10.1007/s12011-016-0914-x. PMID: 28035581
Sun JY, Li DL, Dong Y, Zhu CH, Liu J, Li JD, Zhou T, Gou JZ, Li A, Zang WJ
Int Immunopharmacol 2016 Jul;36:86-93. Epub 2016 Apr 22 doi: 10.1016/j.intimp.2016.04.012. PMID: 27107801

Prognosis

Rzeznik M, Triba MN, Levy P, Jungo S, Botosoa E, Duchemann B, Le Moyec L, Bernaudin JF, Savarin P, Guez D
PLoS One 2017;12(8):e0182767. Epub 2017 Aug 24 doi: 10.1371/journal.pone.0182767. PMID: 28837579Free PMC Article
Han K, Park JB
Medicine (Baltimore) 2017 Aug;96(33):e7835. doi: 10.1097/MD.0000000000007835. PMID: 28816984Free PMC Article
Äyräväinen L, Leirisalo-Repo M, Kuuliala A, Ahola K, Koivuniemi R, Meurman JH, Heikkinen AM
BMJ Open 2017 Jan 31;7(1):e011916. doi: 10.1136/bmjopen-2016-011916. PMID: 28143836Free PMC Article
Lee YT, Lee HC, Hu CJ, Huang LK, Chao SP, Lin CP, Su EC, Lee YC, Chen CC
J Am Geriatr Soc 2017 Feb;65(2):301-305. Epub 2016 Sep 29 doi: 10.1111/jgs.14449. PMID: 27685603
Morita T, Yamazaki Y, Fujiharu C, Ishii T, Seto M, Nishinoue N, Sasaki Y, Nakai K, Tanaka H, Kawato T, Maeno M
Metab Syndr Relat Disord 2016 Dec;14(10):475-482. Epub 2016 Oct 14 doi: 10.1089/met.2016.0018. PMID: 27740886

Clinical prediction guides

Alazawi W, Bernabe E, Tai D, Janicki T, Kemos P, Samsuddin S, Syn WK, Gillam D, Turner W
PLoS One 2017;12(12):e0185902. Epub 2017 Dec 8 doi: 10.1371/journal.pone.0185902. PMID: 29220367Free PMC Article
Cui D, Lyu J, Li H, Lei L, Bian T, Li L, Yan F
Mol Immunol 2017 Nov;91:65-74. Epub 2017 Sep 5 doi: 10.1016/j.molimm.2017.08.012. PMID: 28886588
Akinkugbe AA, Avery CL, Barritt AS, Cole SR, Lerch M, Mayerle J, Offenbacher S, Petersmann A, Nauck M, Völzke H, Slade GD, Heiss G, Kocher T, Holtfreter B
J Dent Res 2017 Nov;96(12):1392-1399. Epub 2017 Jul 21 doi: 10.1177/0022034517720924. PMID: 28732187Free PMC Article
Äyräväinen L, Leirisalo-Repo M, Kuuliala A, Ahola K, Koivuniemi R, Meurman JH, Heikkinen AM
BMJ Open 2017 Jan 31;7(1):e011916. doi: 10.1136/bmjopen-2016-011916. PMID: 28143836Free PMC Article
Unriza-Puin S, Bautista-Molano W, Lafaurie GI, Valle-Oñate R, Chalem P, Chila-Moreno L, Bello-Gualtero JM, Romero-Sánchez C
Clin Rheumatol 2017 Apr;36(4):799-806. Epub 2016 Dec 28 doi: 10.1007/s10067-016-3519-z. PMID: 28028684

Recent systematic reviews

Shi Q, Cai C, Xu J, Liu J, Liu H, Huo N
Medicine (Baltimore) 2017 Jun;96(25):e7288. doi: 10.1097/MD.0000000000007288. PMID: 28640144Free PMC Article
Wang HF, He FQ, Xu CJ, Li DM, Sun XJ, Chi YT, Guo W
Genet Mol Res 2017 Feb 23;16(1) doi: 10.4238/gmr16019315. PMID: 28252166
Leira Y, Seoane J, Blanco M, Rodríguez-Yáñez M, Takkouche B, Blanco J, Castillo J
Eur J Epidemiol 2017 Jan;32(1):43-53. Epub 2016 Jun 14 doi: 10.1007/s10654-016-0170-6. PMID: 27300352
Abariga SA, Whitcomb BW
BMC Pregnancy Childbirth 2016 Nov 8;16(1):344. doi: 10.1186/s12884-016-1145-z. PMID: 27825315Free PMC Article
Araújo MM, Martins CC, Costa LC, Cota LO, Faria RL, Cunha FA, Costa FO
J Clin Periodontol 2016 Mar;43(3):216-28. Epub 2016 Mar 6 doi: 10.1111/jcpe.12510. PMID: 26743451

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