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Angiofibromas

MedGen UID:
104928
Concept ID:
C0206731
Neoplastic Process
Synonym: Angiofibroma
SNOMED CT: Angiofibroma (302857002); Angiofibroma (1162933001); Giant cell angiofibroma (1162933001); Cellular angiofibroma (1162933001); Involuting nevus (1162933001); Fibrous papule (1162933001)
 
HPO: HP:0010615

Definition

Angiofibroma consist of many often dilated vessels. [from HPO]

Conditions with this feature

Tuberous sclerosis 2
MedGen UID:
348170
Concept ID:
C1860707
Disease or Syndrome
Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, intellectual disability / developmental delay, psychiatric illness); kidney (angiomyolipomas, cysts, renal cell carcinomas); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system tumors are the leading cause of morbidity and mortality; renal disease is the second leading cause of early death.
Basal cell nevus syndrome 2
MedGen UID:
1841087
Concept ID:
C5830451
Neoplastic Process
The basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, is characterized by numerous basal cell cancers and epidermal cysts of the skin, calcified dural folds, keratocysts of the jaws, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, fetal rhabdomyomas, and various stigmata of maldevelopment (e.g., rib and vertebral abnormalities, cleft lip or cleft palate, and cortical defects of bones) (summary by Koch et al., 2002). For a discussion of genetic heterogeneity of BCNS, see BCNS1 (109400).

Professional guidelines

PubMed

Bertazzoni G, Schreiber A, Ferrari M, Nicolai P
Curr Opin Otolaryngol Head Neck Surg 2019 Feb;27(1):47-53. doi: 10.1097/MOO.0000000000000505. PMID: 30507688
Gaztambide S, Vazquez F, Castaño L
Minerva Endocrinol 2013 Mar;38(1):17-28. PMID: 23435440
Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML; Endocrine Society
J Clin Endocrinol Metab 2012 Sep;97(9):2990-3011. Epub 2012 Jun 20 doi: 10.1210/jc.2012-1230. PMID: 22723327

Recent clinical studies

Etiology

Waguespack SG
Front Endocrinol (Lausanne) 2022;13:1029041. Epub 2022 Oct 17 doi: 10.3389/fendo.2022.1029041. PMID: 36325452Free PMC Article
Wang MX, Segaran N, Bhalla S, Pickhardt PJ, Lubner MG, Katabathina VS, Ganeshan D
Radiographics 2021 Nov-Dec;41(7):1992-2010. Epub 2021 Sep 17 doi: 10.1148/rg.2021210103. PMID: 34534018
Ebrahimi-Fakhari D, Meyer S, Vogt T, Pföhler C, Müller CSL
J Dtsch Dermatol Ges 2017 Jul;15(7):695-700. Epub 2017 Jun 9 doi: 10.1111/ddg.13264. PMID: 28598544
Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML; Endocrine Society
J Clin Endocrinol Metab 2012 Sep;97(9):2990-3011. Epub 2012 Jun 20 doi: 10.1210/jc.2012-1230. PMID: 22723327
Kwiatkowski DJ, Short MP
Arch Dermatol 1994 Mar;130(3):348-54. PMID: 8129414

Diagnosis

Amorim BDB, Azulay D, Ramos-E-Silva M
Skinmed 2021;19(3):179-185. Epub 2021 Jun 1 PMID: 34303387
Becker B, Strowd RE 3rd
Dermatol Clin 2019 Oct;37(4):583-606. doi: 10.1016/j.det.2019.05.015. PMID: 31466597
Windfuhr JP, Vent J
Clin Otolaryngol 2018 Feb;43(1):199-222. Epub 2017 Aug 10 doi: 10.1111/coa.12939. PMID: 28714226
Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML; Endocrine Society
J Clin Endocrinol Metab 2012 Sep;97(9):2990-3011. Epub 2012 Jun 20 doi: 10.1210/jc.2012-1230. PMID: 22723327
Jabbour SA, Davidovici BB, Wolf R
Clin Dermatol 2006 Jul-Aug;24(4):299-316. doi: 10.1016/j.clindermatol.2006.04.005. PMID: 16828412

Therapy

Cortell Fuster C, Martínez Gómez MA, Cercós Lleti AC, Climente Martí M
J Dermatolog Treat 2022 Jun;33(4):1804-1810. Epub 2021 Apr 6 doi: 10.1080/09546634.2021.1905768. PMID: 33821748
De Waele L, Lagae L, Mekahli D
Pediatr Nephrol 2015 Oct;30(10):1771-80. Epub 2014 Dec 23 doi: 10.1007/s00467-014-3027-9. PMID: 25533384
Salido-Vallejo R, Garnacho-Saucedo G, Moreno-Giménez JC
Actas Dermosifiliogr 2014 Jul-Aug;105(6):558-68. Epub 2013 Mar 21 doi: 10.1016/j.ad.2012.11.020. PMID: 23522741
Patel AM, Chou EL, Findeiss L, Kelly KM
Semin Cutan Med Surg 2012 Jun;31(2):98-104. doi: 10.1016/j.sder.2012.02.001. PMID: 22640429Free PMC Article
Krueger DA, Franz DN
Paediatr Drugs 2008;10(5):299-313. doi: 10.2165/00148581-200810050-00004. PMID: 18754697

Prognosis

Bertazzoni G, Schreiber A, Ferrari M, Nicolai P
Curr Opin Otolaryngol Head Neck Surg 2019 Feb;27(1):47-53. doi: 10.1097/MOO.0000000000000505. PMID: 30507688
De Waele L, Lagae L, Mekahli D
Pediatr Nephrol 2015 Oct;30(10):1771-80. Epub 2014 Dec 23 doi: 10.1007/s00467-014-3027-9. PMID: 25533384
Thakker RV, Newey PJ, Walls GV, Bilezikian J, Dralle H, Ebeling PR, Melmed S, Sakurai A, Tonelli F, Brandi ML; Endocrine Society
J Clin Endocrinol Metab 2012 Sep;97(9):2990-3011. Epub 2012 Jun 20 doi: 10.1210/jc.2012-1230. PMID: 22723327
Yadav SP, Singh I, Chanda R, Sachdeva OP
J Otolaryngol 2002 Dec;31(6):346-50. doi: 10.2310/7070.2002.34409. PMID: 12593545
Huang RY, Damrose EJ, Blackwell KE, Cohen AN, Calcaterra TC
Int J Pediatr Otorhinolaryngol 2000 Nov 30;56(1):59-64. doi: 10.1016/s0165-5876(00)00404-3. PMID: 11074117

Clinical prediction guides

Pierotti L, Pardi E, Dinoi E, Piaggi P, Borsari S, Della Valentina S, Sardella C, Michelucci A, Caligo MA, Bogazzi F, Marcocci C, Cetani F
Front Endocrinol (Lausanne) 2023;14:1191040. Epub 2023 Jul 7 doi: 10.3389/fendo.2023.1191040. PMID: 37484956Free PMC Article
Simonds WF
Front Endocrinol (Lausanne) 2023;14:1183297. Epub 2023 Jun 20 doi: 10.3389/fendo.2023.1183297. PMID: 37409236Free PMC Article
Cartron AM, Buccine D, Treichel AM, Lee CR, Moss J, Darling TN
J Eur Acad Dermatol Venereol 2021 May;35(5):1226-1229. Epub 2021 Feb 23 doi: 10.1111/jdv.17161. PMID: 33565654Free PMC Article
Snyderman CH, Lavigne P
Adv Otorhinolaryngol 2020;84:106-113. Epub 2020 Jul 30 doi: 10.1159/000457930. PMID: 32731223
Kwiatkowski DJ, Short MP
Arch Dermatol 1994 Mar;130(3):348-54. PMID: 8129414

Recent systematic reviews

Kothari DS, Linker LA, Tham T, Maroda AJ, McElfresh JM, Fastenberg JH, Hachem RA, Elijovich L, Michael LM, Rangarajan SV
Otolaryngol Head Neck Surg 2023 Sep;169(3):454-466. Epub 2023 Feb 17 doi: 10.1002/ohn.303. PMID: 36808756
Cortell Fuster C, Martínez Gómez MA, Cercós Lleti AC, Climente Martí M
J Dermatolog Treat 2022 Jun;33(4):1804-1810. Epub 2021 Apr 6 doi: 10.1080/09546634.2021.1905768. PMID: 33821748
Leducq S, Giraudeau B, Tavernier E, Maruani A
J Am Acad Dermatol 2019 Mar;80(3):735-742. doi: 10.1016/j.jaad.2018.10.070. PMID: 30744877
Windfuhr JP, Vent J
Clin Otolaryngol 2018 Feb;43(1):199-222. Epub 2017 Aug 10 doi: 10.1111/coa.12939. PMID: 28714226

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