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Generalized hypoplasia of dental enamel

MedGen UID:
870619
Concept ID:
C4025070
Anatomical Abnormality; Finding
Synonyms: Generalised dysplasia of tooth enamel; Generalised hypoplasia of dental enamel; Generalised hypoplasia of tooth enamel; Generalized dysplasia of tooth enamel; Generalized hypoplasia of tooth enamel
 
HPO: HP:0006282

Definition

A generalized form of developmental hypoplasia of the dental enamel. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized hypoplasia of dental enamel

Conditions with this feature

Alopecia - contractures - dwarfism - intellectual disability syndrome
MedGen UID:
167081
Concept ID:
C0795895
Disease or Syndrome
A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.

Professional guidelines

PubMed

Gevert MV, Soares R, Wambier LM, Ribeiro AE, Avais LS, de Souza JF, Chibinski ACR
Clin Oral Investig 2022 Oct;26(10):5989-6002. Epub 2022 Jul 6 doi: 10.1007/s00784-022-04612-9. PMID: 35790597
Nitschke Y, Rutsch F
Curr Osteoporos Rep 2017 Aug;15(4):255-270. doi: 10.1007/s11914-017-0370-3. PMID: 28585220
Suzuki M, Jordan RE, Skinner DH, Boksman L
Int Dent J 1982 Jun;32(2):148-58. PMID: 6749694

Recent clinical studies

Etiology

Weber KR, Wierichs RJ, Meyer-Lueckel H, Flury S
Swiss Dent J 2021 Dec 6;131(12):988-997. Epub 2021 Mar 25 PMID: 33764037
Souto-Souza D, da Consolação Soares ME, Rezende VS, de Lacerda Dantas PC, Galvão EL, Falci SGM
Arch Oral Biol 2018 Mar;87:180-190. Epub 2017 Dec 28 doi: 10.1016/j.archoralbio.2017.12.025. PMID: 29306074
Elhennawy K, Schwendicke F
J Dent 2016 Dec;55:16-24. Epub 2016 Sep 28 doi: 10.1016/j.jdent.2016.09.012. PMID: 27693779
Billings RJ, Berkowitz RJ, Watson G
Pediatrics 2004 Apr;113(4 Suppl):1120-7. PMID: 15060208
Wright JT, Fine JD
Semin Dermatol 1994 Jun;13(2):102-7. PMID: 8060821

Diagnosis

Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV
J Med Genet 2023 Apr;60(4):368-379. Epub 2022 Jul 26 doi: 10.1136/jmg-2022-108646. PMID: 35882526Free PMC Article
Rutsch F, Buers I, Nitschke Y
Arterioscler Thromb Vasc Biol 2021 Jan;41(1):35-47. Epub 2020 Nov 12 doi: 10.1161/ATVBAHA.120.315577. PMID: 33176451
Souto-Souza D, da Consolação Soares ME, Rezende VS, de Lacerda Dantas PC, Galvão EL, Falci SGM
Arch Oral Biol 2018 Mar;87:180-190. Epub 2017 Dec 28 doi: 10.1016/j.archoralbio.2017.12.025. PMID: 29306074
Guandalini S, Assiri A
JAMA Pediatr 2014 Mar;168(3):272-8. doi: 10.1001/jamapediatrics.2013.3858. PMID: 24395055
Rivera E, Assiri A, Guandalini S
Oral Dis 2013 Oct;19(7):635-41. Epub 2013 Mar 18 doi: 10.1111/odi.12091. PMID: 23496382

Therapy

Carrillo CM, Corrêa FN, Lopes NN, Fava M, Odone Filho V
Clinics (Sao Paulo) 2014 Jun;69(6):433-7. doi: 10.6061/clinics/2014(06)11. PMID: 24964309Free PMC Article
Guandalini S, Assiri A
JAMA Pediatr 2014 Mar;168(3):272-8. doi: 10.1001/jamapediatrics.2013.3858. PMID: 24395055
Caufield PW, Li Y, Bromage TG
J Dent Res 2012 Jun;91(6):544-50. Epub 2012 Apr 23 doi: 10.1177/0022034512444929. PMID: 22529242Free PMC Article
Billings RJ, Berkowitz RJ, Watson G
Pediatrics 2004 Apr;113(4 Suppl):1120-7. PMID: 15060208
Corazza GR, Gasbarrini G
Baillieres Clin Gastroenterol 1995 Jun;9(2):329-50. doi: 10.1016/0950-3528(95)90034-9. PMID: 7549030

Prognosis

Reed SG, Fan S, Wagner CL, Lawson AB
Caries Res 2024;58(1):30-38. Epub 2023 Nov 2 doi: 10.1159/000534793. PMID: 37918363
Polizzi A, Santonocito S, Patini R, Quinzi V, Mummolo S, Leonardi R, Bianchi A, Isola G
Biomed Res Int 2022;2022:6493156. Epub 2022 May 31 doi: 10.1155/2022/6493156. PMID: 35686231Free PMC Article
van der Tas JT, Elfrink MEC, Heijboer AC, Rivadeneira F, Jaddoe VWV, Tiemeier H, Schoufour JD, Moll HA, Ongkosuwito EM, Wolvius EB, Voortman T
Community Dent Oral Epidemiol 2018 Aug;46(4):343-351. Epub 2018 Mar 1 doi: 10.1111/cdoe.12372. PMID: 29493792Free PMC Article
Carrillo CM, Corrêa FN, Lopes NN, Fava M, Odone Filho V
Clinics (Sao Paulo) 2014 Jun;69(6):433-7. doi: 10.6061/clinics/2014(06)11. PMID: 24964309Free PMC Article
Corazza GR, Gasbarrini G
Baillieres Clin Gastroenterol 1995 Jun;9(2):329-50. doi: 10.1016/0950-3528(95)90034-9. PMID: 7549030

Clinical prediction guides

Emralino FL, Satoh S, Sakai N, Takami M, Takeuchi F, Yan N, Rutsch F, Fujita T, Kato H
J Immunol 2022 Dec 1;209(11):2093-2103. doi: 10.4049/jimmunol.2200367. PMID: 36426976
Paglia L
Eur J Paediatr Dent 2018 Sep;19(3):173. doi: 10.23804/ejpd.2018.19.03.1. PMID: 30063146
Souto-Souza D, da Consolação Soares ME, Rezende VS, de Lacerda Dantas PC, Galvão EL, Falci SGM
Arch Oral Biol 2018 Mar;87:180-190. Epub 2017 Dec 28 doi: 10.1016/j.archoralbio.2017.12.025. PMID: 29306074
Elhennawy K, Schwendicke F
J Dent 2016 Dec;55:16-24. Epub 2016 Sep 28 doi: 10.1016/j.jdent.2016.09.012. PMID: 27693779
Carrillo CM, Corrêa FN, Lopes NN, Fava M, Odone Filho V
Clinics (Sao Paulo) 2014 Jun;69(6):433-7. doi: 10.6061/clinics/2014(06)11. PMID: 24964309Free PMC Article

Recent systematic reviews

Tapalaga G, Bumbu BA, Reddy SR, Vutukuru SD, Nalla A, Bratosin F, Fericean RM, Dumitru C, Crisan DC, Nicolae N, Luca MM
Nutrients 2023 Sep 5;15(18) doi: 10.3390/nu15183863. PMID: 37764647Free PMC Article
Weber KR, Wierichs RJ, Meyer-Lueckel H, Flury S
Swiss Dent J 2021 Dec 6;131(12):988-997. Epub 2021 Mar 25 PMID: 33764037
Shuai Y, Liu B, Zhou G, Rong L, Niu C, Jin L
Oral Dis 2021 Oct;27(7):1616-1620. Epub 2020 Aug 2 doi: 10.1111/odi.13549. PMID: 32657518
Souto-Souza D, da Consolação Soares ME, Rezende VS, de Lacerda Dantas PC, Galvão EL, Falci SGM
Arch Oral Biol 2018 Mar;87:180-190. Epub 2017 Dec 28 doi: 10.1016/j.archoralbio.2017.12.025. PMID: 29306074
Elhennawy K, Schwendicke F
J Dent 2016 Dec;55:16-24. Epub 2016 Sep 28 doi: 10.1016/j.jdent.2016.09.012. PMID: 27693779

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