Академический Документы
Профессиональный Документы
Культура Документы
CLINICAL REVIEW
Pediatric Dermatology Vol. 21 No. 3 191 196, 2004
Preauricular sinuses (ear pits) are a common congenital is usually on the auricle. Sinuses have been reported to
Address correspondence to Noah S. Scheinfeld, M.D., Department of Dermatology, St. Lukes Hospital, 1020 Amsterdam Ave., Suite 11D, Apt 9E, New York, NY 10025, or e-mail: nss32@columbia.edu.
abnormality. First described by Heusinger in 1864, they are occur along the lateral surface of the helicine crus and the
frequently noted on routine physical examination and most superior posterior margin of the helix, tragus, or lobule.
affected patients seek no treatment. Their incidence varies Preauricular sinuses are usually narrow and short,
globally and is estimated in the United States at 0.10.9%, in occasionally arborizing and following a tortuous course near
England at 0.9% (1), in Taiwan at 1.62.5% (2), and in some the external ear. They are usually found lateral, superior,
areas of Africa at 410% (3). Sinuses manifest as small dells and posterior to the facial nerve and the parotid gland,
(width less than 3 mm) adjacent to the external ear, usually into which they can rarely extend. In almost all cases, the
located at the anterior margin of the ascending limb of the duct connects to the perichondrium of the auricular carti-
helix, most frequently on the right side (Fig. 1) (4). The lage. The extent of lesions can be assessed using methyl-
term preauricular is a misnomer because the sinus opening ene blue staining and a probe (5).
191
192 Pediatric Dermatology Vol. 21 No. 3 May/June 2004
HISTOLOGY
Stratified squamous epithelium showing hyperkeratosis
and parakeratosis (Fig. 2) lines the duct of the sinus and
may be filled with a smegma-like material (Fig. 3) and
may contain sebaceous glands or sebocytes (Fig. 4), sweat
glands, and hair follicles (6). The surrounding tissue can
contain plasma cells, lymphocytes, and neutrophils. If
severe inflammation has occurred, the epithelial lining is
often replaced by granulation tissue.
BOR syndrome Conductive, sensorineural, or mixed hearing loss; BOR is caused by mutations in
preauricular pits; structural defects of the outer, middle, the human EYA1 gene
or inner ear; renal anomalies and failure; lateral cervical
fistulas, cysts, or sinuses; and/or nasolacrimal duct
stenosis or fistulas
Branchio-otic (BO) syndrome (35) Branchial anomalies, preauricular pits, and hearing loss,
with no renal dysplasia
Branchio-oto-ureteral syndrome (36) Severe bilateral sensorineural hearing loss, a preauricular pit Two families reported
or tag, and duplication of the ureters or bifid renal pelves
Branchio-oto-costal syndrome (37) Branchial arch anomalies, hearing loss, ear and commissural
lip pits, and rib anomalies
Branchio-oculo-facial syndrome (38) Abnormal upper lip, which resembles a poorly repaired cleft Branchio-oculo-facial syndrome and
lip, malformed nose with broad bridge and flattened tip, BO/BOR syndromes are distinct
lacrimal duct obstruction, malformed ears, and branchial entities (39)
cleft sinuses and/or linear skin lesions behind the ears
Hemifacial microsomia syndrome Bilateral preauricular sinuses, facial steatocystoma multiplex
associated with pilar cysts (40)
Sensorineural hearing loss, facial palsy, microtia or
anotia, cervical appendages containing cartilage, and
other defects (41)
Lip pits Preauricular sinuses, conductive deafness, commissural lip No inner ear abnormalities are identified on
pits, and external ear abnormalities (42) computed tomography (CT) scans (43)
Bilateral defects, male transmission Bilateral cervical branchial sinuses, bilateral preauricular Three generations of male-to-male
sinuses, bilateral malformed auricles, and bilateral transmission reported
hearing impairment (44)
Tetralogy of Fallot and clinodactyly Characteristic facial appearance, preauricular pits, fifth Autosomal dominant transmission
finger clinodactyly, and tetralogy of Fallot have been
reported (45)
Ectodermal dysplasia Preauricular pits, tetra-amelia, ectodermal dysplasia,
hypoplastic lacrimal ducts and sacs opening toward the
exterior, peculiar face, and developmental retardation (46)
Waardenburg syndrome Bilateral preauricular sinuses, Waardenburg syndrome
without a white forelock with syndactyly, absence of
the fourth left toe, and dacryocystitis (47)
Incomplete trisomy 22 (48) Complex congenital heart defect, membranous anal atresia A female infant with growth failure,
without fistula, distal limb hypoplasia, partial cutaneous microcephaly, hypertelorism,
syndactyly between second and third toes, and a left epicanthal folds, preauricular pit,
preauricular pit congenital heart defect, hypotonia,
and delayed development had trisomy
22 mosaicism (46,XX/47,XX, +22)
in cultured skin fibroblasts but not
in blood lymphocytes (49)
Complete trisomy 22 (50) Primitive and low-set ears, bilateral preauricular pit, One case reported. The child
broad nasal bridge, antimongoloid palpebral fissures, developed signs of congenital heart
macroglossia, enlarged sublingual glands, cleft palate, disease and died at the age of 10 weeks
micrognathia, clinodactyly of the fifth fingers, hypoplastic
fingernails, hypoplastic genitalia, short lower limbs,
bilateral sandal gap, and deep plantar furrows
3. Aird I. Ear-pit: congenital aural and preauricular fistula. 26. Islam MA, Habib MA. Branchial cleft anomalies a
Edinb Med J 1946;53:498 507. study of 20 cases. Bangladesh Med Res Counc Bull
4. Paulozzi LJ, Lary JM. Laterality patterns in infants with 1995;21:104107.
external birth defects. Teratology 1999;60:265 271. 27. Won KH, Gayler BW, Shimizu H. Genetic hearing loss
5. Martin-Granizo R, Perez-Herrero MC, Sanchez-Cuellar A. with preauricular sinus and branchiogenic fistula. Arch
Methylene blue staining and probing for fistula resection: Otolaryngol 1977;103:676680.
application in a case of bilateral congenital preauricular 28. Vervoort VS, Smith RJ, OBrien J, et al. Genomic
fistulas. Int J Oral Maxillofac Surg 2002;31:439 441. rearrangements of EYA1 account for a large fraction of
6. Baarsma EA. Surgical treatment of the infected preaur- families with BOR syndrome. Eur J Hum Genet
icular sinus. Arch Otorhinolaryngol 1979;222:97102. 2002;10:757766.
7. Ellies M, Laskawi R, Arglebe C, Altrogge C. Clinical 29. Bellini C, Piaggio G, Massocco D, et al. Branchio-oto-renal
evaluation and surgical management of congenital syndrome: a report on nine family groups. Am J Kidney
preauricular fistulas. J Oral Maxillofac Surg 1998;56:827 Dis 2001;37:505509.
831. 30. Fitch N, Lindsay JR, Srolovitz H. The temporal bone in
8. Lai CS. Preauricular sinus as a cause of wound infection the preauricular pit, cervical fistula, hearing loss syndrome.
after rhytidectomy. Plast Reconstr Surg 1998;102:584 Ann Otol Rhinol Laryngol 1976;85:268275.
585. 31. Kumar S, Marres HA, Cremers CW, Kimberling WJ.
9. Beckett HA. Infected pre-auricular sinus presenting to a Autosomal-dominant branchio-otic (BO) syndrome is not
dental practitioner. Br Dent J 1987;162:261262. allelic to the branchio-oto-renal (BOR) gene at 8q13. Am
10. Wagner RF Jr. Congenital preauricular sinuses associated J Med Genet 1998;76:395401.
with dark hair coloration in one family. Int J Dermatol 32. Fraser FC, Ayme S, Halal F, Sproule J. Autosomal domi-
1991;30:651 652. nant duplication of the renal collecting system, hearing
11. Yanai A, Okabe K, Nakamura Y. Epidermal cyst originat- loss, and external ear anomalies: a new syndrome? Am J
ing from the preauricular sinus. Plast Reconstr Surg Med Genet 1983;14:473478.
1987;79:265 266. 33. Clementi M, Mammi I, Tenconi R. Family with branchial
12. Oliver M, Chopite M, Rondon A. Coexistence of arch anomalies, hearing loss, ear and commissural lip pits,
pseudocyst of the auricle and preauricular fistula. Int J and rib anomalies. A new autosomal recessive condition:
Dermatol 1994;33:135. branchio-oto-costal syndrome? Am J Med Genet
13. Tembe D. Calculus in the preauricular sinus. J Laryngol 1997;68:9193.
Otol 1966;80:95 97. 34. Fujimoto A, Lipson M, Lacro RV, et al. New autosomal
14. Chami RG, Apesos J. Treatment of asymptomatic preaur- dominant branchio-oculo-facial syndrome. Am J Med
icular sinuses: challenging conventional wisdom. Ann Genet 1987;27:943951.
Plast Surg 1989;23:406 411. 35. Trummer T, Muller D, Schulze A, Vogel W, Just W. Branchio-
15. Currie AR, King WW, Vlantis AC, Li AK. Pitfalls in oculo-facial syndrome and branchio-otic/branchio-
the management of preauricular sinuses. Br J Surg oto-renal syndromes are distinct entities. J Med Genet
1996;83:17221724. 2002;39:7173.
16. Lam HC, Soo G, Wormald PJ, Van Hasselt CA. Excision 36. Sardana K, Sharma RC, Jain A, Mahajan S. Facial steato-
of the preauricular sinus: a comparison of two surgical cystoma multiplex associated with pilar cyst and bilateral
techniques. Laryngoscope 2001;111:317319. preauricular sinus. J Dermatol 2002;29:157159.
17. OMara W, Guarisco L. Management of the preauricular 37. Rollnick BR, Kaye CI. Hemifacial microsomia and the
sinus. J La State Med Soc 1999;151:447 450. branchio-oto-renal syndrome. J Craniofac Genet Dev Biol
18. Gur E, Yeung A, Al-Azzawi M, Thomson H. The excised 1985;1(suppl):287295.
preauricular sinus in 14 years of experience: is there a 38. Marres HA, Cremers CW. Congenital conductive or mixed
problem? Plast Reconstr Surg 1998;2:1405 1408. deafness, preauricular sinus, external ear anomaly, and
19. Prasad S, Grundfast K, Milmoe G. Management of commissural lip pits: an autosomal dominant inherited
congenital preauricular pit and sinus tract in children. syndrome. Ann Otol Rhinol Laryngol 1991;100:928
Laryngoscope 1990;100:320 321. 932.
20. Nofsinger YC, Tom LW, LaRossa D, Wetmore RF, 39. Marres HA, Cremers CW, Huygen PL, Joosten FB. The
Handler SD. Periauricular cysts and sinuses. Laryngoscope deafness, pre-auricular sinus, external ear anomaly and
1997;107:883 887. commissural lip pits syndrome otological, vestibular
21. His W. Anatomie menschlichen embryonen (part 3). and radiological findings. J Laryngol Otol 1994;108:13
Leipzig: F.C.W. Vogel, 1885. 18.
22. Minkowitz S, Minkowitz R. Congenital aural sinus. Surg 40. Har-El G, Hadar T, Krespi YP. Multiple branchiogenic
Gynecol Obstet 1964;118:801 806. anomalies. Ear Nose Throat J 1991;70:777782.
23. Emery PJ, Salama NY. Congenital pre-auricular sinus. A 41. Jones MC, Waldman JD. An autosomal dominant syn-
study of 31 cases seen over a ten year period. Int J Pediatr drome of characteristic facial appearance, preauricular
Otorhinolaryngol 1981;3:205 212. pits, fifth finger clinodactyly, and tetralogy of Fallot. Am J
24. Merlob P, Aitkin I. Time trends (1980 1987) of ten Med Genet 1985;22:135141.
selected informative morphogenetic variants in a newborn 42. Ohdo S, Madokoro H, Sonoda T, Takei M, Yasuda H,
population. Clin Genet 1990;38:33 37. Mori N. Association of tetra-amelia, ectodermal dysplasia,
25. Melnick M, Myrianthopoulos NC. External ear malfor- hypoplastic lacrimal ducts and sacs opening towards the
mations: epidemiology, genetics and natural history. New exterior, peculiar face, and developmental retardation.
York: Alan R. Liss, 1979. J Med Genet 1987;24:609612.
196 Pediatric Dermatology Vol. 21 No. 3 May/June 2004
43. Zelig S, Deutsch E, Eilon A. Waardenburg syndrome with 47. Kugelman A, Hadad B, Ben-David J, Podoshin L,
associated multiple anomalies. ORL J Otorhinolaryngol Borochowitz Z, Bader D. Preauricular tags and pits in
Relat Spec 1984;46:34 37. the newborn: the role of hearing tests. Acta Paediatr
44. Schinzel A. Incomplete trisomy 22. III. Mosaic-trisomy 1997;86:170172.
22 and the problem of full trisomy 22. Hum Genet 48. Leung AK, Robson WL. Association of preauricular
1981;56:269 273. sinuses and renal anomalies. Urology 1992;40:259261.
45. Lessick ML, Szego K, Wong PW. Trisomy 22 mosaicism 49. Ahuja AT, Marshall JN, Roebuck DJ, King AD, Metreweli
with normal blood chromosomes. Case report with C. Sonographic appearances of preauricular sinus. Clin
literature review. Clin Pediatr (Phila) 1988;27:451 Radiol 2000;55:528532.
454. 50. Wang RY, Earl DL, Ruder RO, Graham JM Jr. Syndromic
46. Petersen MB, Hansen M, Djernes BW. Full trisomy 22 in ear anomalies and renal ultrasounds. Pediatrics
a newborn infant. Ann Genet 1987;30:101104. 2001;108:E32.