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Papilloma

MedGen UID:
10566
Concept ID:
C0030354
Neoplastic Process
Synonym: Papillomas
SNOMED CT: Papilloma (711329002)
 
HPO: HP:0012740
Monarch Initiative: MONDO:0002363

Definition

A tumor of the skin or mucous membrane with finger-like projections. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPapilloma

Conditions with this feature

Hereditary lymphedema type I
MedGen UID:
309963
Concept ID:
C1704423
Disease or Syndrome
Primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). Genetic Heterogeneity of Lymphatic Malformation Primary lymphedema is genetically heterogeneous: see also LMPHM2 (611944), which maps to chromosome 6q16.2-q22.1; LMPHM3 (613480), caused by mutation in the GJC2 gene (608803) on chromosome 1q42; LMPHM4 (615907), caused by mutation in the VEGFC gene (601528) on chromosome 4q34; LMPHM5 (153200); LMPHM6 (616843), caused by mutation in the PIEZO1 gene (611184) on chromosome 16q24; LMPHM7 (617300), caused by mutation in the EPHB4 gene (600011) on chromosome 7q22; LMPHM8 (618773), caused by mutation in the CALCRL gene (114190) on chromosome 2q31; LMPHM9 (619319), caused by mutation in the CELSR1 gene (604523) on chromosome 22q13; LMPHM10 (610369), caused by mutation in the ANGPT2 gene (601922) on chromosome 8p23; LMPHM11 (619401), caused by mutation in the TIE1 gene (600222) on chromosome 1p34; LMPHM12 (620014), caused by mutation in the MDFIC gene (614511) on chromosome 7q31; LMPHM13 (620244), caused by mutation in the THSD1 gene (616821) on chromosome 13q14; and LMPHM14 (620602), caused by mutation in the ERG gene (165080) on chromosome 21q22. Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome (153400), which is caused by mutation in the FOXC2 gene (602402), and various forms of nonimmune hydrops fetalis (NIHF; see 236750).
Cowden syndrome 7
MedGen UID:
908796
Concept ID:
C4225179
Disease or Syndrome
Cowden syndrome is a genetic disorder characterized by multiple noncancerous, tumor-like growths called hamartomas and an increased risk of developing certain cancers.\n\nAlmost everyone with Cowden syndrome develops hamartomas. These growths are most commonly found on the skin and mucous membranes (such as the lining of the mouth and nose), but they can also occur in the intestine and other parts of the body. The growth of hamartomas on the skin and mucous membranes typically becomes apparent by a person's late twenties.\n\nCowden syndrome is associated with an increased risk of developing several types of cancer, particularly cancers of the breast, a gland in the lower neck called the thyroid, and the lining of the uterus (the endometrium). Other cancers that have been identified in people with Cowden syndrome include kidney cancer, colorectal cancer, and an agressive form of skin cancer called melanoma. Compared with the general population, people with Cowden syndrome develop these cancers at younger ages, often beginning in their thirties or forties. People with Cowden syndrome are also more likely to develop more than one cancer during their lifetimes compared to the general population. Other diseases of the breast, thyroid, and endometrium are also common in Cowden syndrome. Additional signs and symptoms can include an enlarged head (macrocephaly) and a rare, noncancerous brain tumor called Lhermitte-Duclos disease. A small percentage of affected individuals have delayed development, intellectual disability, or autism spectrum disorder, which can affect communication and social interaction.\n\nSome people do not meet the strict criteria for a clinical diagnosis of Cowden syndrome, but they have some of the characteristic features of the condition, particularly the cancers. These individuals are often described as having Cowden-like syndrome. Both Cowden syndrome and Cowden-like syndrome are caused by mutations in the same genes.\n\nThe features of Cowden syndrome overlap with those of another disorder called Bannayan-Riley-Ruvalcaba syndrome. People with Bannayan-Riley-Ruvalcaba syndrome also develop hamartomas and other noncancerous tumors.  Some people with Cowden syndrome have relatives diagnosed with Bannayan-Riley-Ruvalcaba syndrome, and other affected individuals have the characteristic features of both conditions. Based on these similarities, researchers have proposed that Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent a spectrum of overlapping features known as PTEN hamartoma tumor syndrome (named for the genetic cause of the conditions) instead of two distinct conditions.\n\n

Professional guidelines

PubMed

Tsikouras P, Zervoudis S, Manav B, Tomara E, Iatrakis G, Romanidis C, Bothou A, Galazios G
J BUON 2016 Mar-Apr;21(2):320-5. PMID: 27273940
Lisan Q, Laccourreye O, Bonfils P
Eur Ann Otorhinolaryngol Head Neck Dis 2016 Nov;133(5):337-341. Epub 2016 Apr 1 doi: 10.1016/j.anorl.2016.03.006. PMID: 27053431
Hathaway JK
Clin Obstet Gynecol 2012 Sep;55(3):671-80. doi: 10.1097/GRF.0b013e31825caa36. PMID: 22828099

Recent clinical studies

Etiology

Tierney SN
Surg Clin North Am 2022 Dec;102(6):965-972. doi: 10.1016/j.suc.2022.08.011. PMID: 36335931
Birkenbeuel JL, Pang JC, Lee A, Nguyen ES, Risbud A, Goshtasbi K, Abiri A, Lehrich BM, Tong CCL, Adappa ND, Palmer JN, Kuan EC
Head Neck 2022 Apr;44(4):1014-1029. Epub 2022 Feb 9 doi: 10.1002/hed.26995. PMID: 35141984
Brogi E, Krystel-Whittemore M
Mod Pathol 2021 Jan;34(Suppl 1):78-93. Epub 2020 Oct 26 doi: 10.1038/s41379-020-00706-5. PMID: 33106592
Lisan Q, Laccourreye O, Bonfils P
Eur Ann Otorhinolaryngol Head Neck Dis 2016 Nov;133(5):337-341. Epub 2016 Apr 1 doi: 10.1016/j.anorl.2016.03.006. PMID: 27053431
Tanaka M, Chari S, Adsay V, Fernandez-del Castillo C, Falconi M, Shimizu M, Yamaguchi K, Yamao K, Matsuno S; International Association of Pancreatology
Pancreatology 2006;6(1-2):17-32. doi: 10.1159/000090023. PMID: 16327281

Diagnosis

Tierney SN
Surg Clin North Am 2022 Dec;102(6):965-972. doi: 10.1016/j.suc.2022.08.011. PMID: 36335931
Brogi E, Krystel-Whittemore M
Mod Pathol 2021 Jan;34(Suppl 1):78-93. Epub 2020 Oct 26 doi: 10.1038/s41379-020-00706-5. PMID: 33106592
Keddie S, Jaunmuktane Z, Brandner S, Shah S, Maddison P, Rees JH, Hanna MG, Lunn MPT, Reilly MM, Rossor AM, Carr AS
Pract Neurol 2018 Apr;18(2):137-142. Epub 2018 Jan 23 doi: 10.1136/practneurol-2017-001801. PMID: 29363556Free PMC Article
Lisan Q, Laccourreye O, Bonfils P
Eur Ann Otorhinolaryngol Head Neck Dis 2016 Nov;133(5):337-341. Epub 2016 Apr 1 doi: 10.1016/j.anorl.2016.03.006. PMID: 27053431
Tanaka M, Chari S, Adsay V, Fernandez-del Castillo C, Falconi M, Shimizu M, Yamaguchi K, Yamao K, Matsuno S; International Association of Pancreatology
Pancreatology 2006;6(1-2):17-32. doi: 10.1159/000090023. PMID: 16327281

Therapy

Mei Z, Li D
Front Cell Infect Microbiol 2022;12:963868. Epub 2022 Jul 28 doi: 10.3389/fcimb.2022.963868. PMID: 35967876Free PMC Article
Suzuki Y, Sukegawa A, Ueda Y, Sekine M, Enomoto T, Melamed A, Wright JD, Miyagi E
JMIR Public Health Surveill 2022 May 25;8(5):e34715. doi: 10.2196/34715. PMID: 35421848Free PMC Article
Botticelli A, Cirillo A, Strigari L, Valentini F, Cerbelli B, Scagnoli S, Cerbelli E, Zizzari IG, Rocca CD, D'Amati G, Polimeni A, Nuti M, Merlano MC, Mezi S, Marchetti P
Front Immunol 2021;12:705096. Epub 2021 Aug 9 doi: 10.3389/fimmu.2021.705096. PMID: 34434192Free PMC Article
Massarelli E, William W, Johnson F, Kies M, Ferrarotto R, Guo M, Feng L, Lee JJ, Tran H, Kim YU, Haymaker C, Bernatchez C, Curran M, Zecchini Barrese T, Rodriguez Canales J, Wistuba I, Li L, Wang J, van der Burg SH, Melief CJ, Glisson B
JAMA Oncol 2019 Jan 1;5(1):67-73. doi: 10.1001/jamaoncol.2018.4051. PMID: 30267032Free PMC Article
Kennedy DW
Int Forum Allergy Rhinol 2015 Dec;5(12):1083-4. doi: 10.1002/alr.21692. PMID: 26769189

Prognosis

Basonidis A, Liberis A, Daniilidis A, Petousis S, Dinas K
Taiwan J Obstet Gynecol 2020 Sep;59(5):656-659. doi: 10.1016/j.tjog.2020.07.005. PMID: 32917313
Cohen N, Fedewa S, Chen AY
Oral Maxillofac Surg Clin North Am 2018 Nov;30(4):381-395. Epub 2018 Aug 3 doi: 10.1016/j.coms.2018.06.001. PMID: 30078696
Guido R
Clin Obstet Gynecol 2018 Mar;61(1):40-51. doi: 10.1097/GRF.0000000000000336. PMID: 29252924
Maturo SC, Hartnick CJ
Adv Otorhinolaryngol 2012;73:105-8. Epub 2012 Mar 29 doi: 10.1159/000334457. PMID: 22472239
Miller PJ, Jacobs J, Roland JT Jr, Cooper J, Mizrachi HH
Head Neck 1996 Sep-Oct;18(5):450-3; discussion 454. doi: 10.1002/(SICI)1097-0347(199609/10)18:5<450::AID-HED8>3.0.CO;2-4. PMID: 8864736

Clinical prediction guides

Magnes T, Wagner S, Kiem D, Weiss L, Rinnerthaler G, Greil R, Melchardt T
Int J Mol Sci 2021 May 7;22(9) doi: 10.3390/ijms22094981. PMID: 34067112Free PMC Article
Tsikouras P, Zervoudis S, Manav B, Tomara E, Iatrakis G, Romanidis C, Bothou A, Galazios G
J BUON 2016 Mar-Apr;21(2):320-5. PMID: 27273940
Petersson F
Semin Diagn Pathol 2015 Jan;32(1):54-73. Epub 2015 Feb 25 doi: 10.1053/j.semdp.2015.02.021. PMID: 25769204
Anari S, Carrie S
J Laryngol Otol 2010 Jul;124(7):705-15. Epub 2010 Apr 14 doi: 10.1017/S0022215110000599. PMID: 20388243
Oyama T, Koerner FC
Semin Diagn Pathol 2004 Feb;21(1):32-41. doi: 10.1053/j.semdp.2003.10.011. PMID: 15074557

Recent systematic reviews

Birkenbeuel JL, Pang JC, Lee A, Nguyen ES, Risbud A, Goshtasbi K, Abiri A, Lehrich BM, Tong CCL, Adappa ND, Palmer JN, Kuan EC
Head Neck 2022 Apr;44(4):1014-1029. Epub 2022 Feb 9 doi: 10.1002/hed.26995. PMID: 35141984
Botticelli A, Cirillo A, Strigari L, Valentini F, Cerbelli B, Scagnoli S, Cerbelli E, Zizzari IG, Rocca CD, D'Amati G, Polimeni A, Nuti M, Merlano MC, Mezi S, Marchetti P
Front Immunol 2021;12:705096. Epub 2021 Aug 9 doi: 10.3389/fimmu.2021.705096. PMID: 34434192Free PMC Article
Wei F, Gaisa MM, D'Souza G, Xia N, Giuliano AR, Hawes SE, Gao L, Cheng SH, Donà MG, Goldstone SE, Schim van der Loeff MF, Neukam K, Meites E, Poynten IM, Dai J, Combes JD, Wieland U, Burgos J, Wilkin TJ, Hernandez AL, Iribarren Díaz M, Hidalgo-Tenorio C, Valencia Arredondo M, Nyitray AG, Wentzensen N, Chow EP, Smelov V, Nowak RG, Phanuphak N, Woo YL, Choi Y, Hu Y, Schofield AM, Woestenberg PJ, Chikandiwa AT, Hickey AC, de Pokomandy A, Murenzi G, Péré H, Del Pino M, Ortiz AP, Charnot-Katsikas A, Liu X, Chariyalertsak S, Strong C, Ong JJ, Yunihastuti E, Etienney I, Ferré VM, Zou H, Segondy M, Chinyowa S, Alberts CJ, Clifford GM
Lancet HIV 2021 Sep;8(9):e531-e543. Epub 2021 Jul 30 doi: 10.1016/S2352-3018(21)00108-9. PMID: 34339628Free PMC Article
Suarez-Lledo V, Alvarez-Galvez J
J Med Internet Res 2021 Jan 20;23(1):e17187. doi: 10.2196/17187. PMID: 33470931Free PMC Article
Gualano MR, Olivero E, Voglino G, Corezzi M, Rossello P, Vicentini C, Bert F, Siliquini R
Hum Vaccin Immunother 2019;15(4):918-931. Epub 2019 Feb 20 doi: 10.1080/21645515.2018.1564437. PMID: 30633626Free PMC Article

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