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Hepatic hemangioma

MedGen UID:
66765
Concept ID:
C0238246
Neoplastic Process
Synonym: Liver hemangioma
SNOMED CT: Hepatic hemangioma (93469006); Hemangioma of liver (93469006); Hepatic angioma (93469006)
 
HPO: HP:0031207
Monarch Initiative: MONDO:0002404

Definition

A congenital vascular malformation in the liver composed of masses of blood vessels that are atypical or irregular in arrangement and size. [from HPO]

Conditions with this feature

Von Hippel-Lindau syndrome
MedGen UID:
42458
Concept ID:
C0019562
Disease or Syndrome
Von Hippel-Lindau (VHL) syndrome is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma, pancreatic cysts, and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cysts. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Retinal hemangioblastomas may be the initial manifestation of VHL syndrome and can cause vision loss. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility.
Rubinstein-Taybi syndrome due to CREBBP mutations
MedGen UID:
1639327
Concept ID:
C4551859
Disease or Syndrome
Rubinstein-Taybi syndrome (RSTS) is characterized by distinctive facial features, broad and often angulated thumbs and halluces, short stature, and moderate-to-severe intellectual disability. The characteristic craniofacial features are downslanted palpebral fissures, low-hanging columella, high palate, grimacing smile, and talon cusps. Prenatal growth is often normal, then height, weight, and head circumference percentiles rapidly drop in the first few months of life. Short stature is typical in adulthood. Obesity may develop in childhood or adolescence. Average IQ ranges between 35 and 50; however, developmental outcome varies considerably. Some individuals with EP300-RSTS have normal intellect. Additional features include ocular abnormalities, hearing loss, respiratory difficulties, congenital heart defects, renal abnormalities, cryptorchidism, feeding problems, recurrent infections, and severe constipation.

Professional guidelines

PubMed

Aziz H, Brown ZJ, Baghdadi A, Kamel IR, Pawlik TM
J Gastrointest Surg 2022 Sep;26(9):1998-2007. Epub 2022 Jun 15 doi: 10.1007/s11605-022-05382-1. PMID: 35705835
Nault JC, Blanc JF, Moga L, Calderaro J, Dao T, Guiu B, Hocquelet A, Paradis V, Salamé E, de Lédinghen V, Bourlière M, Bureau C, Ganne-Carrié N
Clin Res Hepatol Gastroenterol 2022 Jan;46(1):101765. Epub 2021 Jul 29 doi: 10.1016/j.clinre.2021.101765. PMID: 34333196
Dong W, Qiu B, Xu H, He L
Eur J Gastroenterol Hepatol 2019 Sep;31(9):1079-1084. doi: 10.1097/MEG.0000000000001413. PMID: 31021878

Recent clinical studies

Etiology

Özgür Ö, Sindel HT
Turk J Med Sci 2021 Dec 13;51(6):2943-2950. doi: 10.3906/sag-2102-352. PMID: 34344145Free PMC Article
Xie QS, Chen ZX, Zhao YJ, Gu H, Geng XP, Liu FB
BMC Surg 2021 Apr 8;21(1):186. doi: 10.1186/s12893-021-01185-4. PMID: 33832476Free PMC Article
Adams DM, Ricci KW
Otolaryngol Clin North Am 2018 Feb;51(1):77-87. doi: 10.1016/j.otc.2017.09.009. PMID: 29217069
Ibáñez VM, Zamora AS, Morote SC, Crespo ML, Rodríguez EF, Soria JE
Surgery 2017 Jun;161(6):1735-1736. Epub 2016 Apr 9 doi: 10.1016/j.surg.2016.02.036. PMID: 27072991
Gallego C, Miralles M, Marín C, Muyor P, González G, García-Hidalgo E
Radiographics 2004 May-Jun;24(3):755-72. doi: 10.1148/rg.243035046. PMID: 15143226

Diagnosis

Aziz H, Brown ZJ, Baghdadi A, Kamel IR, Pawlik TM
J Gastrointest Surg 2022 Sep;26(9):1998-2007. Epub 2022 Jun 15 doi: 10.1007/s11605-022-05382-1. PMID: 35705835
Rodríguez Bandera AI, Sebaratnam DF, Wargon O, Wong LF
J Am Acad Dermatol 2021 Dec;85(6):1379-1392. Epub 2021 Aug 19 doi: 10.1016/j.jaad.2021.08.019. PMID: 34419524
Dong W, Qiu B, Xu H, He L
Eur J Gastroenterol Hepatol 2019 Sep;31(9):1079-1084. doi: 10.1097/MEG.0000000000001413. PMID: 31021878
Iacobas I, Phung TL, Adams DM, Trenor CC 3rd, Blei F, Fishman DS, Hammill A, Masand PM, Fishman SJ
J Pediatr 2018 Dec;203:294-300.e2. Epub 2018 Sep 21 doi: 10.1016/j.jpeds.2018.08.012. PMID: 30244993
Bajenaru N, Balaban V, Săvulescu F, Campeanu I, Patrascu T
J Med Life 2015;8 Spec Issue(Spec Issue):4-11. PMID: 26361504Free PMC Article

Therapy

Wang S, Gao R, Zhao S, Zhu H, Zhang W, Kong X, Li P, Ma D, Gao J, Sun W
Surg Endosc 2022 Jul;36(7):5149-5159. Epub 2021 Nov 29 doi: 10.1007/s00464-021-08891-3. PMID: 34845546
Macdonald A, Durkin N, Deganello A, Sellars ME, Makin E, Davenport M
Ann Surg 2022 Jan 1;275(1):e250-e255. doi: 10.1097/SLA.0000000000003881. PMID: 33064395
Özgür Ö, Sindel HT
Turk J Med Sci 2021 Dec 13;51(6):2943-2950. doi: 10.3906/sag-2102-352. PMID: 34344145Free PMC Article
Jiao-Ling L, Xiu-Ping G, Kun-Shan C, Qiu-Ming H, Xiao-Fen L, Bo-Yang Y, Qian F
BMC Pregnancy Childbirth 2018 Jan 2;18(1):2. doi: 10.1186/s12884-017-1635-7. PMID: 29291724Free PMC Article
Adams DM, Ricci KW
Otolaryngol Clin North Am 2018 Feb;51(1):77-87. doi: 10.1016/j.otc.2017.09.009. PMID: 29217069

Prognosis

Zavras N, Dimopoulou A, Machairas N, Paspala A, Vaos G
Eur J Pediatr 2020 Jan;179(1):1-8. Epub 2019 Nov 22 doi: 10.1007/s00431-019-03504-7. PMID: 31758313
Iacobas I, Phung TL, Adams DM, Trenor CC 3rd, Blei F, Fishman DS, Hammill A, Masand PM, Fishman SJ
J Pediatr 2018 Dec;203:294-300.e2. Epub 2018 Sep 21 doi: 10.1016/j.jpeds.2018.08.012. PMID: 30244993
Jiao-Ling L, Xiu-Ping G, Kun-Shan C, Qiu-Ming H, Xiao-Fen L, Bo-Yang Y, Qian F
BMC Pregnancy Childbirth 2018 Jan 2;18(1):2. doi: 10.1186/s12884-017-1635-7. PMID: 29291724Free PMC Article
Ibáñez VM, Zamora AS, Morote SC, Crespo ML, Rodríguez EF, Soria JE
Surgery 2017 Jun;161(6):1735-1736. Epub 2016 Apr 9 doi: 10.1016/j.surg.2016.02.036. PMID: 27072991
Gallego C, Miralles M, Marín C, Muyor P, González G, García-Hidalgo E
Radiographics 2004 May-Jun;24(3):755-72. doi: 10.1148/rg.243035046. PMID: 15143226

Clinical prediction guides

Yang Z, Zhang C, Li Z, Wu L, Li M
Contrast Media Mol Imaging 2022;2022:1350826. Epub 2022 Aug 31 doi: 10.1155/2022/1350826. PMID: 36105445Free PMC Article
Yoshimizu C, Ariizumi S, Kogiso T, Sagawa T, Taniai M, Honda G, Egawa H, Tokushige K
Intern Med 2022 Jun 15;61(12):1849-1856. Epub 2021 Nov 20 doi: 10.2169/internalmedicine.8405-21. PMID: 34803101Free PMC Article
Leon M, Chavez L, Surani S
World J Gastroenterol 2020 Jan 7;26(1):11-20. doi: 10.3748/wjg.v26.i1.11. PMID: 31933511Free PMC Article
Zavras N, Dimopoulou A, Machairas N, Paspala A, Vaos G
Eur J Pediatr 2020 Jan;179(1):1-8. Epub 2019 Nov 22 doi: 10.1007/s00431-019-03504-7. PMID: 31758313
Hoekstra LT, Bieze M, Erdogan D, Roelofs JJ, Beuers UH, van Gulik TM
Expert Rev Gastroenterol Hepatol 2013 Mar;7(3):263-8. doi: 10.1586/egh.13.10. PMID: 23445235

Recent systematic reviews

Fei L, Hongsong X
Int J Hyperthermia 2023;40(1):2146214. doi: 10.1080/02656736.2022.2146214. PMID: 36535918
Aziz H, Brown ZJ, Baghdadi A, Kamel IR, Pawlik TM
J Gastrointest Surg 2022 Sep;26(9):1998-2007. Epub 2022 Jun 15 doi: 10.1007/s11605-022-05382-1. PMID: 35705835
Torkian P, Li J, Kaufman JA, Jahangiri Y
Cardiovasc Intervent Radiol 2021 Jan;44(1):80-91. Epub 2020 Aug 17 doi: 10.1007/s00270-020-02611-5. PMID: 32808203
Prodromidou A, Machairas N, Garoufalia Z, Kostakis ID, Tsaparas P, Paspala A, Stamopoulos P, Sotiropoulos GC
Transplant Proc 2019 Mar;51(2):440-442. Epub 2019 Jan 4 doi: 10.1016/j.transproceed.2019.01.018. PMID: 30879561

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