Introduction: The preauricular sinus (PAuS) is a malformation of the auricula pinna. The structure may present isolated or as a component of a number of oto-renal syndromes.
Aim: The aim of this study was to establish the incidence of PAuS in a Bulgarian cohort and propose a model for its inheritance, based on the transgenerational mechanisms derived from the genealogic trees of interviewed individuals.
Materials and Methods: A total of 100 healthy individuals were prospectively evaluated for the presence of a PAuS on a random cohort sampling principle. A descriptive statistical approach was used when categorizing the individual features. Individuals were also assessed in terms of their genealogies and presence of renal symptoms.
Results: Of all assessed individuals, 3% (n=3) had a structure complying with the criteria for a PAuS. No one having the structure reported renal symptoms. The genealogical trees were characteristic of a dominant trait with incomplete penetrance.
Conclusion: The incidence of PAuS in our study cohort is similar to that of other Caucasian cohorts and gives a rare modern glimpse into the transgenerational inheritance of the PAuS, together with data on the oto-nephrological syndromes.
Wood-Jones F, I-Chuan W. The development of the external ear. J Anat. 1934;68(Pt 4):525-33.
Kim JR, Kim DH, Kong SK, Gu PM, Hong TU, Kim BJ, et al. Congenital periauricular fistulas: Possible variants of the preauricular sinus. Int J Pediatr Otorhinolaryngol. 2014;78(11):1843-8. doi: 10.1016/j.ijporl.2014.08.005.
Kugelman A, Hadad B, Ben-David J, Podoshin L, Borochowitz Z, Bader D. Preauricular tags and pits in the newborn: the role of hearing tests. Acta Paediatr. 1997;86(2):170-2.
Mohammadi AA, Imani MT, Kardeh S, Karami MM, Kherad M. Non-surgical management of congenital auricular deformities. World J Plast Surg. 2016;5(2):139-47.
Kanamori G, Witter M, Brown J, Williams-Smith L. Otolaryngologic manifestations of Down syndrome. Otolaryngol Clin North Am. 2000;33(6):1285-92.
Kochhar A, Fischer SM, Kimberling WJ, Smith RJ. Branchio-oto-renal syndrome. Am J Med Genet A. 2007;143A(14):1671-8. doi: 10.1002/ajmg.a.31561.
Elliott M, Bayly R, Cole T, Temple IK, Maher ER. Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. Clin Genet. 2008;46(2):168-74.
Heusinger CF. Hals-Kiemen-Fisteln von noch nicht beobachteter Form. Arch fur Pathol Anat und Physiol und fur Klin Med. 1864;29:358-80.
Virchow R. Ueber Missbildungen am Ohr und im Bereiche des ersten Kiemenbogens. Arch fur Pathol Anat und Physiol und fur Klin Med. 1864;30:221-34.
Tan T, Constantinides H, Mitchell TE. The preauricular sinus: A review of its aetiology, clinical presentation and management. Int J Pediatr Otorhinolaryngol. 2005;69(11):1469-74. doi: 10.1016/j.ijporl.2005.07.008.
Kumar Chowdary KV, Sateesh Chandra N, Karthik Madesh R. Preauricular sinus: A novel approach. Indian J Otolaryngol Head Neck Surg. 2013;65(3):234-6. doi: 10.1007/s12070-012-0520-y.
Scheinfeld NS, Silverberg NB, Weinberg JM, Nozad V. The preauricular sinus: A review of its clinical presentation, treatment, and associations. Pediatr Dermatol. 2004;21(3):191-6. doi: 10.1111/j.0736-8046.2004.21301.x.
Rataiczak H, Lavin J, Levy M, Bedwell J, Preciado D, Reilly BK. Association of recurrence of infected congenital preauricular cysts following incision and drainage vs fine-needle aspiration or antibiotic treatment. JAMA Otolaryngol Neck Surg. 2017;143(2):131-4. doi: 10.1001/jamaoto.2016.2988.
Choi SJ, Choung Y-H, Park K, Bae J, Park HY. The variant type of preauricular sinus: postauricular sinus. Laryngoscope. 2007;117(10):1798-802. doi: 10.1097/MLG.0b013e3180caa1ca.
Kim HJ, Lee JH, Cho HS, Moon IS. A case of bilateral postauricular sinuses. Korean J Audiol. 2012;16(2):99-101. doi: 10.7874/kja.2012.16.2.99.
Yu CV, Khera KD, Pauwels J, Chadha NK. Prevalence and ethnic variation of pre-auricular sinuses in children. Int J Pediatr Otorhinolaryngol. 2016;80:43-8. doi: 10.1016/j.ijporl.2015.11.008.
Gan EC, Anicete R, Tan HKK, Balakrishnan A. Preauricular sinuses in the pediatric population: Techniques and recurrence rates. Int J Pediatr Otorhinolaryngol. 2013;77(3):372-8. doi: 10.1016/j.ijporl.2012.11.029.
Choo OS, Kim T, Jang JH, Choung YH. The clinical efficacy of early intervention for infected preauricular sinus. Int J Pediatr Otorhinolaryngol. 2017;95:45-50. doi: 10.1016/j.ijporl.2017.01.037.
Prasad S, Grundfast K, Milmoe G. Management of congenital preauricular pit and sinus tract in children. Laryngoscope. 1990;100(3):320-1. doi: 10.1288/00005537-199003000-00021.
An SY, Choi HG, Lee JS, Kim JH, Yoo SW, Park B. Analysis of incidence and genetic predisposition of preauricular sinus. Int J Pediatr Otorhinolaryngol. 2014;78(12):2255-7. doi: 10.1016/j.ijporl.2014.10.027.
Wildervanck LS. Hereditary malformations of the ear in three generations: Marginal pits, pre-auricular appendages, malformations of the auricle and conductive deafness. Acta Otolaryngol. 1962;54(1-6):553-60.
Lee KY, Woo S, Kim SW, Yang J-E, Cho Y-S. The prevalence of preauricular sinus and associated factors in a nationwide population-based survey of South Korea. Otol Neurotol. 2014;35(10):1835-8. doi: 10.1097/MAO.0000000000000587.
Quelprud T. Ear pit and its inheritance. J Hered. 1940;31(9):379-84. doi: 10.1093/oxfordjournals.jhered.a104934.
Donald GF. Fistula auris congenita. Australas J Dermatol. 1952;1(4):253-5.
Ewing MR. Congenital sinuses of the external ear. J Laryngol Otol. 1946;61(1):18-23.
Edmonds HW, Keeler CE. Natural `ear-ring` holes. J Hered. 1940;31(12):507-10. doi: 10.1093/oxfordjournals.jhered.a104828.
Whitney DD. Three generations of ear pits. J Hered. 1939;30(8):323-4. doi: 10.1093/oxfordjournals.jhered.a104753.
Kindred JE. Inheritance of a pit in the skin of the left ear. J Hered. 1921;12(8):366-7. doi: 10.1093/oxfordjournals.jhered.a102125.
Connon FE. The inheritance of ear pits in six generations of a family. J Hered. 1941;32(11):413-6. doi: 10.1093/oxfordjournals.jhered.a104980.
McDonough ES. On the inheritance of ear pit. J Hered. 1941;32(5):169-70. doi: 10.1093/oxfordjournals.jhered.a105028.
Email this article (Login required) 
