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Epibulbar lipodermoid-preauricular appendage-polythelia syndrome

MedGen UID:
1808551
•Concept ID:
C5680927
•
Disease or Syndrome
Synonyms: Epibulbar lipodermoid, preauricular appendage, polythelia syndrome; epibulbar lipodermoid-preauricular appendage-polythelia syndrome
SNOMED CT: Epibulbar lipodermoid, preauricular appendage, polythelia syndrome (1208480004)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016510
Orphanet: ORPHA231742

Definition

A branchial arch syndrome with characteristics of supernumerary nipples, preauricular appendages and often binocular epibulbar lipodermoids or unilateral subconjunctival lipodermoids. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEpibulbar lipodermoid-preauricular appendage-polythelia syndrome

Professional guidelines

PubMed

Sebaceous carcinoma of the eyelids. The role of adjunctive cryotherapy in the management of conjunctival pagetoid spread.
Lisman RD, Jakobiec FA, Small P
Ophthalmology 1989 Jul;96(7):1021-6. doi: 10.1016/s0161-6420(89)32798-9. PMID: 2475841

Recent clinical studies

Etiology

Encephalocraniocutaneous Lipomatosis.
Bavle A, Shah R, Gross N, Gavula T, Ruiz-Elizalde A, Wierenga K, McNall-Knapp R
J Pediatr Hematol Oncol 2018 Oct;40(7):553-554. doi: 10.1097/MPH.0000000000001170. PMID: 29683947
Phenotypic characterization of epibulbar dermoids.
Walker BA, Saltzman BS, Herlihy EP, Luquetti DV
Int Ophthalmol 2017 Jun;37(3):499-505. Epub 2016 Jul 12 doi: 10.1007/s10792-016-0285-5. PMID: 27405313
Fronto-facio-nasal dysplasia.
Suthers G, David D, Clark B
Clin Dysmorphol 1997 Jul;6(3):245-9. doi: 10.1097/00019605-199707000-00008. PMID: 9220195
Ocular choristomas.
Mansour AM, Barber JC, Reinecke RD, Wang FM
Surv Ophthalmol 1989 Mar-Apr;33(5):339-58. doi: 10.1016/0039-6257(89)90011-8. PMID: 2655139
Ocular dermoids.
Nevares RL, Mulliken JB, Robb RM
Plast Reconstr Surg 1988 Dec;82(6):959-64. doi: 10.1097/00006534-198812000-00004. PMID: 3200959

Diagnosis

Goldenhar Syndrome - ophthalmologist's perspective.
Schmitzer S, Burcel M, Dăscălescu D, Popteanu IC
Rom J Ophthalmol 2018 Apr-Jun;62(2):96-104. PMID: 30206552Free PMC Article
Encephalocraniocutaneous Lipomatosis.
Bavle A, Shah R, Gross N, Gavula T, Ruiz-Elizalde A, Wierenga K, McNall-Knapp R
J Pediatr Hematol Oncol 2018 Oct;40(7):553-554. doi: 10.1097/MPH.0000000000001170. PMID: 29683947
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update.
Huang L, Vanstone MR, Hartley T, Osmond M, Barrowman N, Allanson J, Baker L, Dabir TA, Dipple KM, Dobyns WB, Estrella J, Faghfoury H, Favaro FP, Goel H, Gregersen PA, Gripp KW, Grix A, Guion-Almeida ML, Harr MH, Hudson C, Hunter AG, Johnson J, Joss SK, Kimball A, Kini U, Kline AD, Lauzon J, Lildballe DL, López-González V, Martinezmoles J, Meldrum C, Mirzaa GM, Morel CF, Morton JE, Pyle LC, Quintero-Rivera F, Richer J, Scheuerle AE, Schönewolf-Greulich B, Shears DJ, Silver J, Smith AC, Temple IK; UCLA Clinical Genomics Center, van de Kamp JM, van Dijk FS, Vandersteen AM, White SM, Zackai EH, Zou R; Care4Rare Canada Consortium, Bulman DE, Boycott KM, Lines MA
Hum Mutat 2016 Feb;37(2):148-54. Epub 2015 Nov 19 doi: 10.1002/humu.22924. PMID: 26507355Free PMC Article
Epibulbar lipodermoids, preauricular appendages and polythelia in four generations: a new hereditary syndrome?
Goldschmidt E, Jacobsen N
Ophthalmic Genet 2010 Jun;31(2):81-3. doi: 10.3109/13816811003767136. PMID: 20450310
Goldenhar's syndrome.
Feingold M, Baum J
Am J Dis Child 1978 Feb;132(2):136-8. doi: 10.1001/archpedi.1978.02120270034006. PMID: 626178

Therapy

Encephalocraniocutaneous Lipomatosis.
Bavle A, Shah R, Gross N, Gavula T, Ruiz-Elizalde A, Wierenga K, McNall-Knapp R
J Pediatr Hematol Oncol 2018 Oct;40(7):553-554. doi: 10.1097/MPH.0000000000001170. PMID: 29683947
Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).
Digilio MC, Calzolari F, Capolino R, Toscano A, Sarkozy A, de Zorzi A, Dallapiccola B, Marino B
Am J Med Genet A 2008 Jul 15;146A(14):1815-9. doi: 10.1002/ajmg.a.32407. PMID: 18553555
Vogt-Koyanagi-Harada syndrome in a pregnant patient treated with high-dose systemic corticosteroids.
Doi M, Matsubara H, Uji Y
Acta Ophthalmol Scand 2000 Feb;78(1):93-6. doi: 10.1034/j.1600-0420.2000.078001093.x. PMID: 10726799
Alpha/beta- and gamma/delta-T-cell-receptor-positive lymphocytes in healthy and inflamed human conjunctiva.
Bialasiewicz AA, Schaudig U, Ma JX, Vieth S, Richard G
Graefes Arch Clin Exp Ophthalmol 1996 Jul;234(7):467-71. doi: 10.1007/BF02539415. PMID: 8817292
Contact lens induced keratopathy: a severe complication extending the spectrum of keratoconjunctivitis in contact lens wearers.
Bloomfield SE, Jakobiec FA, Theodore FH
Ophthalmology 1984 Mar;91(3):290-4. doi: 10.1016/s0161-6420(84)34308-1. PMID: 6201790

Prognosis

Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management.
Das D, Modaboyina S, Agrawal S, Pushker N, Meel R, Bajaj MS
Indian J Ophthalmol 2022 Jul;70(7):2552-2558. doi: 10.4103/ijo.IJO_86_22. PMID: 35791155Free PMC Article
Phenotypic characterization of epibulbar dermoids.
Walker BA, Saltzman BS, Herlihy EP, Luquetti DV
Int Ophthalmol 2017 Jun;37(3):499-505. Epub 2016 Jul 12 doi: 10.1007/s10792-016-0285-5. PMID: 27405313
Primary extranodal marginal zone lymphoma of the uvea associated with massive diffuse epibulbar extension and focal infiltration of the optic nerve and meninges, clinically presented as uveitis masquerade syndrome: a case report.
Rasić DM, Stanković Z, Terzić T, Kovacević D, Koturović Z, Marković V
Med Oncol 2010 Sep;27(3):1010-6. Epub 2009 Oct 9 doi: 10.1007/s12032-009-9325-6. PMID: 19816817
Epibulbar complex choristoma and hemimegalencephaly in linear sebaceous naevus syndrome.
Park JM, Kim DS, Kim J, Lee MG, Oh SH
Clin Exp Dermatol 2009 Dec;34(8):e686-9. Epub 2009 Jul 2 doi: 10.1111/j.1365-2230.2009.03422.x. PMID: 19583735
Tumors of the cornea and conjunctiva.
Heffler KF
Curr Opin Ophthalmol 1995 Aug;6(4):32-8. doi: 10.1097/00055735-199508000-00007. PMID: 10172412

Clinical prediction guides

Tessier cranio-facial clefts presenting to a tertiary eye care center in Northern India: Ophthalmic features and a review of management.
Das D, Modaboyina S, Agrawal S, Pushker N, Meel R, Bajaj MS
Indian J Ophthalmol 2022 Jul;70(7):2552-2558. doi: 10.4103/ijo.IJO_86_22. PMID: 35791155Free PMC Article
Treatment strategy in Goldenhar syndrome.
Bogusiak K, Arkuszewski P, Skorek-Stachnik K, Kozakiewicz M
J Craniofac Surg 2014 Jan;25(1):177-83. doi: 10.1097/SCS.0000000000000387. PMID: 24406574
Epicorneal polypoidal lipodermoid: lack of association of central corneal lesions with goldenhar syndrome verified with a review of the literature.
Jakobiec FA, Pineda R, Rivera R, Hsu-Winges C, Cherwek D
Surv Ophthalmol 2010 Jan-Feb;55(1):78-84. doi: 10.1016/j.survophthal.2009.05.002. PMID: 19783022
Ophthalmic features of the organoid nevus syndrome.
Shields JA, Shields CL, Eagle RC Jr, Arevalo F, De Potter P
Trans Am Ophthalmol Soc 1996;94:65-86; discussion 86-7. doi: 10.1016/s0002-9394(14)70161-8. PMID: 8981690Free PMC Article
Proteus syndrome: clinical evidence for somatic mosaicism and selective review.
Cohen MM Jr
Am J Med Genet 1993 Oct 1;47(5):645-52. doi: 10.1002/ajmg.1320470514. PMID: 8266991

Recent systematic reviews

Ocular and adnexal anomalies in craniofacial microsomia: a systematic review.
Rooijers W, Caron CJJM, Loudon SE, Padwa BL, Dunaway DJ, Forrest CR, Koudstaal MJ
Int J Oral Maxillofac Surg 2020 Sep;49(9):1107-1114. Epub 2020 Mar 23 doi: 10.1016/j.ijom.2020.03.003. PMID: 32217034

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