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Facial hemangioma

MedGen UID:
348361
Concept ID:
C1861443
Finding
Synonym: Facial hemangiomata
 
HPO: HP:0000329

Definition

Hemangioma, a benign tumor of the vascular endothelial cells, occurring in the face. [from HPO]

Conditions with this feature

Sturge-Weber syndrome
MedGen UID:
21361
Concept ID:
C0038505
Disease or Syndrome
Sturge-Weber syndrome is characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common symptoms and signs are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes (review by Thomas-Sohl et al., 2004).
Schinzel-Giedion syndrome
MedGen UID:
120517
Concept ID:
C0265227
Disease or Syndrome
Schinzel-Giedion syndrome is a highly recognizable syndrome characterized by severe mental retardation, distinctive facial features, and multiple congenital malformations including skeletal abnormalities, genitourinary and renal malformations, and cardiac defects, as well as a higher-than-normal prevalence of tumors, notably neuroepithelial neoplasia (summary by Hoischen et al., 2010).
Bohring-Opitz syndrome
MedGen UID:
208678
Concept ID:
C0796232
Disease or Syndrome
Bohring-Opitz syndrome (BOS) is characterized by distinctive facial features and posture, growth failure, variable but usually severe intellectual disability, and variable anomalies. The facial features may include microcephaly or trigonocephaly / prominent (but not fused) metopic ridge, hypotonic facies with full cheeks, synophrys, glabellar and eyelid nevus flammeus (simplex), prominent globes, widely set eyes, palate anomalies, and micrognathia. The BOS posture, which is most striking in early childhood and often becomes less apparent with age, is characterized by flexion at the elbows with ulnar deviation and flexion of the wrists and metacarpophalangeal joints. Feeding difficulties in early childhood, including cyclic vomiting, have a significant impact on overall health; feeding tends to improve with age. Seizures are common and typically responsive to standard epileptic medications. Minor cardiac anomalies and transient bradycardia and apnea may be present. Affected individuals may experience recurrent infections, which also tend to improve with age. Isolated case reports suggest that individuals with BOS are at greater risk for Wilms tumor than the general population, but large-scale epidemiologic studies have not been conducted.
PHACE syndrome
MedGen UID:
376231
Concept ID:
C1847874
Disease or Syndrome
PHACE is an acronym for a neurocutaneous syndrome encompassing the following features: posterior fossa brain malformations, hemangiomas of the face (large or complex), arterial anomalies, cardiac anomalies, and eye abnormalities. The association is referred to as PHACES when ventral developmental defects, such as sternal clefting or supraumbilical raphe, are present (summary by Bracken et al., 2011).
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
MedGen UID:
350477
Concept ID:
C1864648
Disease or Syndrome
Chromosome 16p13.3deletion syndrome is a chromosome abnormality that can affect many parts of the body. People with this condition are missing a small piece (deletion) of chromosome 16 at a location designated p13.3. Although once thought to be a severe form of Rubinstein-Taybi syndrome, it is now emerging as a unique syndrome. Signs and symptoms may include failure to thrive, hypotonia (reduced muscle tone), short stature, microcephaly (unusually small head), characteristic facial features, mild to moderate intellectual disability, organ anomalies (i.e. heart and/or kidney problems), and vulnerability to infections. Chromosome testing of both parents can provide information about whether the deletion was inherited. In most cases, parents do not have any chromosome abnormalities. However, sometimes one parent has a balanced translocation where a piece of a chromosome has broken off and attached to another one with no gain or loss of genetic material. The balanced translocation normally does not cause signs or symptoms, but it increases the risk for having a child with a chromosome abnormality like a deletion. Treatment is based on the signs and symptoms present in each person.To learn more about chromosome abnormalities in general, view our GARD fact sheet on Chromosome Disorders.
Kahrizi syndrome
MedGen UID:
382543
Concept ID:
C2675185
Disease or Syndrome
Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009). See also congenital disorder of glycosylation type Iq (CDG1Q; 612379), an allelic disorder with overlapping features.
Noonan syndrome-like disorder with loose anagen hair 2
MedGen UID:
1376945
Concept ID:
C4479577
Disease or Syndrome
An inherited condition caused by autosomal dominant mutation(s) in the PPP1CB gene, encoding serine/threonine-protein phosphatase PP1-beta catalytic subunit. The condition is characterized by facial features similar to those seen in Noonan syndrome but may also include short stature, cognitive deficits, relative macrocephaly, small posterior fossa resulting in Chiari I malformation, hypernasal voice, cardiac defects, and ectodermal abnormalities, which typically presents as slow-growing, sparse, and/or unruly hair.

Professional guidelines

PubMed

Javaid U, Ali MH, Jamal S, Butt NH
Int Ophthalmol 2018 Feb;38(1):409-416. Epub 2017 Jan 7 doi: 10.1007/s10792-016-0412-3. PMID: 28064423
Metry D, Heyer G, Hess C, Garzon M, Haggstrom A, Frommelt P, Adams D, Siegel D, Hall K, Powell J, Frieden I, Drolet B; PHACE Syndrome Research Conference
Pediatrics 2009 Nov;124(5):1447-56. Epub 2009 Oct 26 doi: 10.1542/peds.2009-0082. PMID: 19858157
Sharony R, Raz J, Aviram R, Cohen I, Beyth Y, Tepper R
Ultrasound Obstet Gynecol 1999 Jul;14(1):71-3. doi: 10.1046/j.1469-0705.1999.14010071.x. PMID: 10461343

Recent clinical studies

Etiology

Hazkour N, Palacios J, Othman S, Smith JD, Goote P, Bastidas N
J Craniofac Surg 2023 Jan-Feb 01;34(1):356-357. Epub 2022 Sep 9 doi: 10.1097/SCS.0000000000008993. PMID: 36084212
Lv Y, Liang G, Fan H, Cheng J, Xing P, Zhu L
Contrast Media Mol Imaging 2022;2022:7399255. Epub 2022 Apr 8 doi: 10.1155/2022/7399255. PMID: 35480081Free PMC Article
Proisy M, Powell J, McCuaig C, Jalbout RE, Lapierre C, Dubois J
AJR Am J Roentgenol 2021 Aug;217(2):507-514. Epub 2021 May 26 doi: 10.2214/AJR.20.23488. PMID: 34036811
López-Gutiérrez JC
Eur J Pediatr 2019 Jan;178(1):1-6. Epub 2018 Nov 12 doi: 10.1007/s00431-018-3290-z. PMID: 30421264
Metry DW, Dowd CF, Barkovich AJ, Frieden IJ
J Pediatr 2001 Jul;139(1):117-23. doi: 10.1067/mpd.2001.114880. PMID: 11445804

Diagnosis

Lv Y, Liang G, Fan H, Cheng J, Xing P, Zhu L
Contrast Media Mol Imaging 2022;2022:7399255. Epub 2022 Apr 8 doi: 10.1155/2022/7399255. PMID: 35480081Free PMC Article
Proisy M, Powell J, McCuaig C, Jalbout RE, Lapierre C, Dubois J
AJR Am J Roentgenol 2021 Aug;217(2):507-514. Epub 2021 May 26 doi: 10.2214/AJR.20.23488. PMID: 34036811
Costa LEM, Castro RF, Costa FMM, Santos MAO
Einstein (Sao Paulo) 2018 Nov 29;16(4):eRC4509. doi: 10.31744/einstein_journal/2018RC4509. PMID: 30517366Free PMC Article
Metry DW, Dowd CF, Barkovich AJ, Frieden IJ
J Pediatr 2001 Jul;139(1):117-23. doi: 10.1067/mpd.2001.114880. PMID: 11445804
Sharony R, Raz J, Aviram R, Cohen I, Beyth Y, Tepper R
Ultrasound Obstet Gynecol 1999 Jul;14(1):71-3. doi: 10.1046/j.1469-0705.1999.14010071.x. PMID: 10461343

Therapy

Zhu H, Luo H, Lai W
Cell Mol Biol (Noisy-le-grand) 2023 Oct 31;69(10):115-120. doi: 10.14715/cmb/2023.69.10.16. PMID: 37953576
López-Gutiérrez JC
Eur J Pediatr 2019 Jan;178(1):1-6. Epub 2018 Nov 12 doi: 10.1007/s00431-018-3290-z. PMID: 30421264
Drosou A, Benjamin L, Linfante I, Mallin K, Trowers A, Wakhloo AK, Thaller SR, Schachner LA
J Am Acad Dermatol 2006 Feb;54(2):348-52. doi: 10.1016/j.jaad.2005.05.037. PMID: 16443074
Ersoy S, Mancini AJ
Pediatr Dermatol 2005 Jul-Aug;22(4):309-13. doi: 10.1111/j.1525-1470.2005.22405.x. PMID: 16060865
Coats DK, Paysse EA, Levy ML
Ophthalmology 1999 Sep;106(9):1739-41. doi: 10.1016/S0161-6420(99)90350-0. PMID: 10485544

Prognosis

López-Gutiérrez JC
Eur J Pediatr 2019 Jan;178(1):1-6. Epub 2018 Nov 12 doi: 10.1007/s00431-018-3290-z. PMID: 30421264
Ghafari A, Sanadgol H
Transplant Proc 2008 Jan-Feb;40(1):251-2. doi: 10.1016/j.transproceed.2007.11.052. PMID: 18261600
Greig AV, Harris DL
Pediatr Dermatol 2003 Jan-Feb;20(1):1-4. doi: 10.1046/j.1525-1470.2003.03001.x. PMID: 12558837
Sharony R, Raz J, Aviram R, Cohen I, Beyth Y, Tepper R
Ultrasound Obstet Gynecol 1999 Jul;14(1):71-3. doi: 10.1046/j.1469-0705.1999.14010071.x. PMID: 10461343
Tanner JL, Dechert MP, Frieden IJ
Pediatrics 1998 Mar;101(3 Pt 1):446-52. doi: 10.1542/peds.101.3.446. PMID: 9481012

Clinical prediction guides

Zhu H, Luo H, Lai W
Cell Mol Biol (Noisy-le-grand) 2023 Oct 31;69(10):115-120. doi: 10.14715/cmb/2023.69.10.16. PMID: 37953576
Disse SC, Toelle SP, Schroeder S, Theiler M, Weibel L, Broser P, Langner C, Siegel D, Brockmann K, Schoenfelder I, Meyer S
Neuroepidemiology 2020;54(5):383-391. Epub 2020 Jul 1 doi: 10.1159/000508187. PMID: 32610335
Steiner JE, McCoy GN, Hess CP, Dobyns WB, Metry DW, Drolet BA, Maheshwari M, Siegel DH
Am J Med Genet A 2018 Jan;176(1):48-55. Epub 2017 Nov 24 doi: 10.1002/ajmg.a.38523. PMID: 29171184Free PMC Article
Grosso S, De Cosmo L, Bonifazi E, Galluzzi P, Farnetani MA, Loffredo P, Anichini C, Berardi R, Morgese G, Balestri P
Am J Med Genet A 2004 Jan 15;124A(2):192-5. doi: 10.1002/ajmg.a.20316. PMID: 14699619
Tanner JL, Dechert MP, Frieden IJ
Pediatrics 1998 Mar;101(3 Pt 1):446-52. doi: 10.1542/peds.101.3.446. PMID: 9481012

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