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Abnormal oral mucosa morphology

MedGen UID:
868765
Concept ID:
C4023170
Anatomical Abnormality
Synonyms: Abnormality of lining of mouth; Abnormality of mucosa of mouth; Abnormality of oral mucosa; Abnormality of oral mucous membrane
 
HPO: HP:0011830

Definition

Abnormality of the oral mucosa. [from HPO]

Conditions with this feature

Hypohidrotic X-linked ectodermal dysplasia
MedGen UID:
57890
Concept ID:
C0162359
Disease or Syndrome
Hypohidrotic ectodermal dysplasia (HED) is characterized by hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). The cardinal features of classic HED become obvious during childhood. The scalp hair is thin, lightly pigmented, and slow growing. Sweating, although present, is greatly deficient, leading to episodes of hyperthermia until the affected individual or family acquires experience with environmental modifications to control temperature. Only a few abnormally formed teeth erupt, at a later-than-average age. Physical growth and psychomotor development are otherwise within normal limits. Mild HED is characterized by mild manifestations of any or all the characteristic features.

Professional guidelines

PubMed

Li S, Wang SJ, Zhao YQ
Medicine (Baltimore) 2018 Aug;97(31):e11687. doi: 10.1097/MD.0000000000011687. PMID: 30075565Free PMC Article
Chiang CP, Yu-Fong Chang J, Wang YP, Wu YH, Lu SY, Sun A
J Formos Med Assoc 2018 Sep;117(9):756-765. Epub 2018 Feb 19 doi: 10.1016/j.jfma.2018.01.021. PMID: 29472048
Wright JT, Fine JD, Johnson L
Pediatr Dent 1993 Jul-Aug;15(4):242-8. PMID: 8247897

Recent clinical studies

Etiology

Afanasyev DE, Liubarets SF
Probl Radiac Med Radiobiol 2020 Dec;25:18-55. doi: 10.33145/2304-8336-2020-25-18-55. PMID: 33361828
Ganesh D, Sreenivasan P, Öhman J, Wallström M, Braz-Silva PH, Giglio D, Kjeller G, Hasséus B
Anticancer Res 2018 Jun;38(6):3223-3229. doi: 10.21873/anticanres.12587. PMID: 29848669
Menzies S, O'Shea F, Galvin S, Wynne B
Ir J Med Sci 2018 Feb;187(1):91-93. Epub 2017 May 3 doi: 10.1007/s11845-017-1622-z. PMID: 28470356
Warnakulasuriya S, Johnson NW, van der Waal I
J Oral Pathol Med 2007 Nov;36(10):575-80. doi: 10.1111/j.1600-0714.2007.00582.x. PMID: 17944749
Wright JT, Fine JD
Semin Dermatol 1994 Jun;13(2):102-7. PMID: 8060821

Diagnosis

Chiang CP, Yu-Fong Chang J, Wang YP, Wu YH, Lu SY, Sun A
J Formos Med Assoc 2018 Sep;117(9):756-765. Epub 2018 Feb 19 doi: 10.1016/j.jfma.2018.01.021. PMID: 29472048
Moharamzadeh K, Colley H, Murdoch C, Hearnden V, Chai WL, Brook IM, Thornhill MH, Macneil S
J Dent Res 2012 Jul;91(7):642-50. Epub 2012 Jan 19 doi: 10.1177/0022034511435702. PMID: 22266525
Sharathkumar AA, Shapiro A
Haemophilia 2008 Nov;14(6):1269-80. doi: 10.1111/j.1365-2516.2008.01774.x. PMID: 19141168
Warnakulasuriya S, Johnson NW, van der Waal I
J Oral Pathol Med 2007 Nov;36(10):575-80. doi: 10.1111/j.1600-0714.2007.00582.x. PMID: 17944749
Newburger JW, Fulton DR
Curr Opin Pediatr 2004 Oct;16(5):508-14. doi: 10.1097/01.mop.0000137796.23813.64. PMID: 15367843

Therapy

Afanasyev DE, Liubarets SF
Probl Radiac Med Radiobiol 2020 Dec;25:18-55. doi: 10.33145/2304-8336-2020-25-18-55. PMID: 33361828
Baig S, Rubab Z, Farooq W
J Coll Physicians Surg Pak 2018 May;28(5):381-385. doi: 10.29271/jcpsp.2018.05.381. PMID: 29690969
Salvatore S, Hauser B, Vandenplas Y
Nestle Nutr Workshop Ser Pediatr Program 2007;59:115-26; discussion 126-31. doi: 10.1159/000098531. PMID: 17245095
Newburger JW, Fulton DR
Curr Opin Pediatr 2004 Oct;16(5):508-14. doi: 10.1097/01.mop.0000137796.23813.64. PMID: 15367843
Schulman A, Morton PC, Dietrich BE
Clin Radiol 1980 Jan;31(1):101-4. doi: 10.1016/s0009-9260(80)80091-2. PMID: 7357817

Prognosis

Ramani RS, Tan I, Bussau L, Angel CM, McCullough M, Yap T
Oral Dis 2023 Nov;29(8):3003-3015. Epub 2022 Jul 10 doi: 10.1111/odi.14291. PMID: 35765235
Hyldahl SJ, El-Jaji MQ, Schuster A, Kjeldsen AD
Int J Dermatol 2022 Dec;61(12):1497-1505. Epub 2022 Jul 6 doi: 10.1111/ijd.16320. PMID: 35792874Free PMC Article
Tomas C, Soyer P, Dohan A, Dray X, Boudiaf M, Hoeffel C
World J Gastroenterol 2014 Aug 21;20(31):10864-75. doi: 10.3748/wjg.v20.i31.10864. PMID: 25152588Free PMC Article
Newburger JW, Fulton DR
Curr Opin Pediatr 2004 Oct;16(5):508-14. doi: 10.1097/01.mop.0000137796.23813.64. PMID: 15367843
Bruce AJ, Rogers RS 3rd
Dermatol Clin 2003 Jan;21(1):99-104. doi: 10.1016/s0733-8635(02)00065-7. PMID: 12622272

Clinical prediction guides

Mahmood H, Shephard A, Hankinson P, Bradburn M, Araujo ALD, Santos-Silva AR, Lopes MA, Vargas PA, McCombe KD, Craig SG, James J, Brooks J, Nankivell P, Mehanna H, Rajpoot N, Khurram SA
Br J Cancer 2023 Nov;129(10):1599-1607. Epub 2023 Sep 27 doi: 10.1038/s41416-023-02438-0. PMID: 37758836Free PMC Article
de Azevedo BLR, Roni GM, Dettogni RS, Torrelio RMF, Leal LF, da Gama-de-Souza LN
Clin Oral Investig 2023 Jun;27(6):3117-3124. Epub 2023 Feb 13 doi: 10.1007/s00784-023-04917-3. PMID: 36781477
Ramani RS, Tan I, Bussau L, Angel CM, McCullough M, Yap T
Oral Dis 2023 Nov;29(8):3003-3015. Epub 2022 Jul 10 doi: 10.1111/odi.14291. PMID: 35765235
Hyldahl SJ, El-Jaji MQ, Schuster A, Kjeldsen AD
Int J Dermatol 2022 Dec;61(12):1497-1505. Epub 2022 Jul 6 doi: 10.1111/ijd.16320. PMID: 35792874Free PMC Article
Sasaki R, Yamamoto T, Ando T
J Craniofac Surg 2016 Jan;27(1):e2-4. doi: 10.1097/SCS.0000000000002247. PMID: 26745198

Recent systematic reviews

Natsos A, Tatanis V, Kontogiannis S, Waisbrod S, Gkeka K, Obaidad M, Peteinaris A, Pagonis K, Papadopoulos C, Kallidonis P, Liatsikos E, Drettas P
Asian J Androl 2024 May 1;26(3):250-259. Epub 2024 Jan 9 doi: 10.4103/aja202358. PMID: 38265253Free PMC Article
Ramani RS, Tan I, Bussau L, Angel CM, McCullough M, Yap T
Oral Dis 2023 Nov;29(8):3003-3015. Epub 2022 Jul 10 doi: 10.1111/odi.14291. PMID: 35765235
Reichart PA, Schmidt-Westhausen AM, Khongkhunthian P, Strietzel FP
J Oral Rehabil 2016 May;43(5):388-99. Epub 2015 Dec 21 doi: 10.1111/joor.12373. PMID: 26685871
Almeida FT, Pachêco-Pereira C, Porporatti AL, Flores-Mir C, Leite AF, De Luca Canto G, Guerra EN
J Gastroenterol Hepatol 2016 Mar;31(3):527-40. doi: 10.1111/jgh.13149. PMID: 26331960
Parkin N, Benson PE, Thind B, Shah A
Cochrane Database Syst Rev 2008 Oct 8;(4):CD006966. doi: 10.1002/14651858.CD006966.pub2. PMID: 18843740

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