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Abnormal earlobe morphology

MedGen UID:
867434
•Concept ID:
C4021808
•
Anatomical Abnormality
Synonym: Abnormality of earlobe
 
HPO: HP:0000363

Definition

An abnormality of the lobule of pinna. [from HPO]

Conditions with this feature

Syndactyly-polydactyly-ear lobe syndrome
MedGen UID:
348333
•Concept ID:
C1861347
•
Disease or Syndrome
A rare, genetic, congenital limb malformation syndrome characterized by complete cutaneous syndactyly between toes 1-2, ulnar polydactyly (ranging from nubbins to an almost complete additional finger) and earlobe malformations. Additionally, abnormalities along the medial border of the foot are observed on X-ray imaging. There have been no further descriptions in the literature since 1976.
See: Condition Record
Syndactyly-polydactyly-ear lobe syndrome

Professional guidelines

PubMed

Novel phenotypes and genotypes in Antley-Bixler syndrome caused by cytochrome P450 oxidoreductase deficiency: based on the first cohort of Chinese children.
Fan L, Ren X, Song Y, Su C, Fu J, Gong C
Orphanet J Rare Dis 2019 Dec 30;14(1):299. doi: 10.1186/s13023-019-1283-2. PMID: 31888681Free PMC Article
Clinical features and management issues in Mowat-Wilson syndrome.
Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L
Am J Med Genet A 2006 Dec 15;140(24):2730-41. doi: 10.1002/ajmg.a.31530. PMID: 17103451

Recent clinical studies

Etiology

Relationship between the earlobe crease and brain white matter abnormalities in apparently healthy subjects.
Ata Korkmaz HA
Turk J Med Sci 2019 Apr 18;49(2):604-609. doi: 10.3906/sag-1812-124. PMID: 30889943Free PMC Article
Otoplasty with an unusual cartilage scoring approach.
Gümüş N, Yılmaz S
J Plast Surg Hand Surg 2016;50(1):19-24. Epub 2015 Jul 15 doi: 10.3109/2000656X.2015.1065265. PMID: 26176319
L-specular plasty versus double-round plasty: two new techniques for earlobe split repair.
Chiummariello S, Iera M, Arleo S, Alfano C
Aesthetic Plast Surg 2011 Jun;35(3):398-401. Epub 2010 Oct 7 doi: 10.1007/s00266-010-9596-5. PMID: 20927518
Bilateral diagonal earlobe crease and coronary artery disease: a significant association.
Evrengül H, Dursunoğlu D, Kaftan A, Zoghi M, Tanriverdi H, Zungur M, Kiliç M
Dermatology 2004;209(4):271-5. doi: 10.1159/000080847. PMID: 15539887
Cleft earlobe repair.
Fearon J, Cuadros CL
Ann Plast Surg 1990 Mar;24(3):252-7. doi: 10.1097/00000637-199003000-00010. PMID: 2316987

Diagnosis

Cutaneous Mucinosis Associated with Beckwith-Wiedemann Syndrome.
Lacey R, Shalabi D, Nikbakht N
Skinmed 2020;18(1):42-44. Epub 2020 Jan 1 PMID: 32167456
Sheldon-Hall syndrome.
Toydemir RM, Bamshad MJ
Orphanet J Rare Dis 2009 Mar 23;4:11. doi: 10.1186/1750-1172-4-11. PMID: 19309503Free PMC Article
Protracted superficial Wegener's granulomatosis.
Sinovich V, Snow J
Australas J Dermatol 2003 Aug;44(3):207-14. doi: 10.1046/j.1440-0960.2003.00689.x. PMID: 12869048
Hutchinson-Gilford progeria syndrome.
Wisuthsarewong W, Viravan S
J Med Assoc Thai 1999 Jan;82(1):96-102. PMID: 10087745
Topics in pediatric plastic surgery.
Denk MJ
Pediatr Clin North Am 1998 Dec;45(6):1479-506, ix. doi: 10.1016/s0031-3955(05)70100-0. PMID: 9889763

Therapy

How to Avoid Earlobe Deformation in Face Lift.
Marlen S, Constantin S, Georgii S
Aesthetic Plast Surg 2015 Aug;39(4):483-90. Epub 2015 Jun 6 doi: 10.1007/s00266-015-0467-y. PMID: 26047921
Prevention of earlobe deformity in face-lifting.
Coscia J, Huang A, Stevenson TR
Ann Plast Surg 2013 Apr;70(4):389-91. doi: 10.1097/SAP.0b013e31828a0cbd. PMID: 23486143
Earlobe rejuvenation.
Hotta T
Plast Surg Nurs 2011 Jan-Mar;31(1):39-40. doi: 10.1097/PSN.0b013e31820f53fc. PMID: 21368648
Protracted superficial Wegener's granulomatosis.
Sinovich V, Snow J
Australas J Dermatol 2003 Aug;44(3):207-14. doi: 10.1046/j.1440-0960.2003.00689.x. PMID: 12869048
Plastic and reconstructive surgery of the earlobe.
Clevens RA, Baker SR
Facial Plast Surg 1995 Oct;11(4):301-9. doi: 10.1055/s-2008-1064546. PMID: 9046618

Prognosis

Relationship between the earlobe crease and brain white matter abnormalities in apparently healthy subjects.
Ata Korkmaz HA
Turk J Med Sci 2019 Apr 18;49(2):604-609. doi: 10.3906/sag-1812-124. PMID: 30889943Free PMC Article
Sudden Death as a Sequel of Ruptured Giant Coronary Artery Aneurysm in Kawasaki Disease.
Zhang J, Tuokan T, Shi Y
Am J Forensic Med Pathol 2018 Dec;39(4):375-377. doi: 10.1097/PAF.0000000000000417. PMID: 29939842
The earlobe crease, coronary artery disease, and sudden cardiac death: an autopsy study of 520 individuals.
Edston E
Am J Forensic Med Pathol 2006 Jun;27(2):129-33. doi: 10.1097/01.paf.0000221067.73173.d7. PMID: 16738431
Bilateral diagonal earlobe crease and coronary artery disease: a significant association.
Evrengül H, Dursunoğlu D, Kaftan A, Zoghi M, Tanriverdi H, Zungur M, Kiliç M
Dermatology 2004;209(4):271-5. doi: 10.1159/000080847. PMID: 15539887
Diagonal earlobe creases and prognosis in patients with suspected coronary artery disease.
Elliott WJ, Powell LH
Am J Med 1996 Feb;100(2):205-11. doi: 10.1016/s0002-9343(97)89460-0. PMID: 8629656

Clinical prediction guides

Prograde transposition for anteriorly low-set earlobe in lobule-type microtia reconstruction.
Deng Y, Yang Y, Wang T, Wang B, Wang P, Zhi J, Xu D, Jiang H
J Plast Reconstr Aesthet Surg 2024 May;92:145-150. Epub 2024 Mar 5 doi: 10.1016/j.bjps.2024.02.073. PMID: 38518626
Horn-shaped Symmetric Nodules on the Earlobes: An Unusual Presentation of First Branchial Cleft Anomaly.
Kwon HJ, Yang YB, Oh DY
J Craniofac Surg 2022 Sep 1;33(6):e592-e594. Epub 2022 Jul 29 doi: 10.1097/SCS.0000000000008678. PMID: 36054896
Relationship between the earlobe crease and brain white matter abnormalities in apparently healthy subjects.
Ata Korkmaz HA
Turk J Med Sci 2019 Apr 18;49(2):604-609. doi: 10.3906/sag-1812-124. PMID: 30889943Free PMC Article
Respiratory and gastrointestinal dysfunctions associated with auriculo-condylar syndrome and a homozygous PLCB4 loss-of-function mutation.
Leoni C, Gordon CT, Della Marca G, Giorgio V, Onesimo R, Perrino F, Cianfoni A, Cerchiari A, Amiel J, Zampino G
Am J Med Genet A 2016 Jun;170(6):1471-8. Epub 2016 Mar 23 doi: 10.1002/ajmg.a.37625. PMID: 27007857
Bilateral diagonal earlobe crease and coronary artery disease: a significant association.
Evrengül H, Dursunoğlu D, Kaftan A, Zoghi M, Tanriverdi H, Zungur M, Kiliç M
Dermatology 2004;209(4):271-5. doi: 10.1159/000080847. PMID: 15539887

Recent systematic reviews

Earlobe Correction of the Pierced Ear: A Systematic Review of the Literature and Principles for Surgical Reconstruction.
Grohmann M, Weiland T, Tuca AC, Wimbauer JM
Facial Plast Surg Aesthet Med 2023 Mar-Apr;25(2):83-89. Epub 2022 Feb 9 doi: 10.1089/fpsam.2021.0269. PMID: 35138923

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