The Preauricular Sinus a Review Of

Blackwell Publishing, Ltd.

CLINICAL REVIEW Pediatric Dermatology Vol. 21 No. 3 191– 196, 2004

The Preauricular Sinus: A Review of its Clinical Presentation, Treatment, and Associations Noah S. Scheinfeld, M.D., J.D., Nanette B. Silverberg, M.D., Jeffrey M. Weinberg, M.D., and Valerie Nozad, D.O. Department of Dermatology, St. Luke’s-Roosevelt Hospital Center and Beth Israel Medical Center, New York, New York

Abstract: Preauricular sinuses (ear pits) are common congenital abnormalities. Usually asymptomatic, they manifest as small dells adjacent to the external ear near the anterior margin of the ascending limb of the helix, most frequently on the right side. Preauricular sinuses can be either inherited or sporadic. When inherited, they show an incomplete autosomal dominant pattern with reduced penetrance and variable expression. They may be bilateral, increasing the likelihood of being inherited, in 25–50% of cases. Preauricular sinuses are features of other conditions or syndromes in 3 –10% of cases, primarily in association with deafness and branchiooto-renal (BOR) syndrome. When other congenital anomalies coexist with these sinuses, auditory testing and renal ultrasound should be considered. Sinuses may become infected, most commonly with gram-positive bacteria, in which case their exudates should be cultured and appropriate antibiotics administered. Recurrent infection is a clear indication for complete excision and provides the only definitive cure. Recurrence rates after surgery range from 9% to 42%. Meticulous excision by an experienced head and neck surgeon minimizes the risk of recurrence.

Preauricular sinuses (ear pits) are a common congenital abnormality. First described by Heusinger in 1864, they are frequently noted on routine physical examination and most affected patients seek no treatment. Their incidence varies globally and is estimated in the United States at 0.1–0.9%, in England at 0.9% (1), in Taiwan at 1.6–2.5% (2), and in some areas of Africa at 4–10% (3). Sinuses manifest as small dells (width less than 3 mm) adjacent to the external ear, usually located at the anterior margin of the ascending limb of the helix, most frequently on the right side (Fig. 1) (4). The term preauricular is a misnomer because the sinus opening Address correspondence to Noah S. Scheinfeld, M.D., Department of Dermatology, St. Luke’s Hospital, 1020 Amsterdam Ave., Suite 11D, Apt 9E, New York, NY 10025, or e-mail: [email protected].

is usually on the auricle. Sinuses have been reported to occur along the lateral surface of the helicine crus and the superior posterior margin of the helix, tragus, or lobule. Preauricular sinuses are usually narrow and short, occasionally arborizing and following a tortuous course near the external ear. They are usually found lateral, superior, and posterior to the facial nerve and the parotid gland, into which they can rarely extend. In almost all cases, the duct connects to the perichondrium of the auricular cartilage. The extent of lesions can be assessed using methylene blue staining and a probe (5).

Address correspondence to Noah S. Scheinfeld, M.D., Department of Dermatology, St. Luke’s Hospital, 1020 Amsterdam Ave., Suite 11D, Apt 9E, New York, NY 10025, or e-mail: [email protected].

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Figure 2. Squamous epithelium with hyperkeratosis and parakeratosis (hematoxylin-eosin; magnification 200×).

Figure 1. Preauricular sinus adjacent to the external ear located at the anterior margin of the ascending limb of the helix, on the right side in an 18-year-old African American.

Figure 3. Duct filled with smegma-like material (hematoxylineosin; magnification 100×).

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. COMPLICATIONS Preauricular sinuses can become infected, most commonly with Staphylococcal species and less commonly with Proteus, Streptococcus, and Peptococcus species (7). Edema, erythema, fluid drainage, and pain are common signs of infection. Fluid drained from a sinus should be cultured and appropriate antibiotics administered. Sinus infections

Figure 4. Cells with isolated sebocytes (hematoxylineosin; magnification 400×).

can have atypical presentations that include wound infection after rhytidectomy (8) and submandibular abscesses (9). Other conditions (10) and lesions can coexist with preauricular sinuses providing nests for infection, including

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epidermal cysts (11), pseudocyts of the auricle (12), and calculi (13). Many believe that recurrent infection is an indication for performing surgery, while others think that even asymptomatic sinuses should be excised because of their uncertain behavior (14). SURGERY Complete excision of the pit and sinus tract provides the only definitive way to prevent complications from sinuses. Meticulous dissection of the sinus under general anesthesia by an experienced head and neck surgeon minimizes the risk of recurrence (15). Some have evaluated (16) and advocated a supra-auricular approach (wide local excision) to minimize recurrences (17). However, in most cases, because the cyst is adherent to the cartilage of the helical crus and failure to remove a small section of cartilage at that point of adherence can be the cause of recurrence (18), careful excision in an approach anterior to the crus and tragus, if needed, will give all the exposure necessary. Surgery should occur only after a preauricular sinus infection has resolved. Wide excision is useful if the edema and inflammation associated with a recurrent sinus infection cannot be reduced by antibiotics. Surgical experience in dealing with sinuses is the key to successful treatment and removal. Recurrence after surgery has been reported at between 9% and 42% (19).

EMBRYOLOGY Preauricular sinuses originate during embryogenesis (20). The auricle arises from the first and second branchial arches during the sixth week of gestation. The eustachian tube and middle ear arise from the first pharyngeal pouch. Tissue from the first and second brachial clefts develops into six auditory hillocks, which unite to form the external ear (21). Specifically, three hillocks arise from the caudal border of the first branchial arch, and three arise from the cephalic border of the second branchial arch (the hillocks of His), which should unite during the next few weeks of embryogenesis (22). Three theories provide explanations for the formation of preauricular sinuses that: they result from defective fusion of the six auricular hillocks resulting in preauricular fistulas; they are relics of incomplete closure of the dorsal part of the first pharyngeal groove; and they develop from isolated ectodermal folding during auricular development (23). Merlob and Aitkin (24) have posited that sinuses are a marker of teratogenic exposures and suggest that a decrease in their prevalence in Israel might be a marker for decreased exposure to teratogens.

INHERITANCE AND ASSOCIATED SYNDROMES Preauricular sinuses are both sporadic and inherited. When inherited, they show an incomplete autosomal dominant pattern with reduced penetrance and variable expression. The sinuses are bilateral in 25–50% of cases, and bilateral sinuses are more likely to be inherited. Preauricular sinuses are rarely associated with deafness or renal problems. In the only large study looking directly at ear anomalies (involving 58,000 children with ear deformities), auricular sinuses were not associated with any risk of renal anomalies; moreover, of 446 preauricular sinuses, only 15 were associated with syndromes (25). One series of cases of branchial cleft anomalies found that 60% had preauricular sinuses (26). The occurrence of these two conditions in a mother and her two children has also been reported (27). The branchio-oto-renal (BOR) syndrome is associated with preauricular sinuses. An autosomal dominant disorder, BOR syndrome affects 2% of profoundly deaf children and is caused by mutations in the human EYA1 gene (28). BOR syndrome consists of conductive, sensorineural, or mixed hearing loss; preauricular pits; structural defects of the outer, middle, or inner ear; renal anomalies and failure; lateral cervical fistulas, cysts, or sinuses; and/or nasolacrimal duct stenosis or fistulas (29). Study of the tissue of the temporal bones of an infant with preauricular pits, cervical fistula, and deafness revealed abnormalities in the middle ear, the vestibular system, and the cochlea (30). Other syndromes (some of which have been reported separately but might in fact overlap with BOR) can be associated with preauricular sinuses as well (Table 1).

EVALUATION OF SYSTEMIC ASSOCIATIONS OF PREAURICULAR PITS Preauricular pits can be associated with hearing and renal problems, and auditory testing (31) and renal ultrasound appear to be useful in patients who have associated syndromes. Some investigators, however, recommend that renal ultrasonography be performed on all children with a preauricular sinus (32,33). A larger study suggested that a renal ultrasound should be performed in patients with isolated preauricular sinuses accompanied by one or more of the following: another malformation or dysmorphic feature, a family history of deafness, auricular and/or renal malformations, or a maternal history of gestational diabetes. In the absence of these findings, this study concluded that renal ultrasonography is not indicated (34).

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TABLE 1. Syndromes Associated with Preauricular Sinus Syndromes/conditions

Manifestations

Comments

BOR syndrome

Conductive, sensorineural, or mixed hearing loss; preauricular pits; structural defects of the outer, middle, or inner ear; renal anomalies and failure; lateral cervical fistulas, cysts, or sinuses; and/or nasolacrimal duct stenosis or fistulas Branchial anomalies, preauricular pits, and hearing loss, with no renal dysplasia Severe bilateral sensorineural hearing loss, a preauricular pit or tag, and duplication of the ureters or bifid renal pelves Branchial arch anomalies, hearing loss, ear and commissural lip pits, and rib anomalies Abnormal upper lip, which resembles a poorly repaired cleft lip, malformed nose with broad bridge and flattened tip, lacrimal duct obstruction, malformed ears, and branchial cleft sinuses and/or linear skin lesions behind the ears 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) Preauricular sinuses, conductive deafness, commissural lip pits, and external ear abnormalities (42) Bilateral cervical branchial sinuses, bilateral preauricular sinuses, bilateral malformed auricles, and bilateral hearing impairment (44) Characteristic facial appearance, preauricular pits, fifth finger clinodactyly, and tetralogy of Fallot have been reported (45) Preauricular pits, tetra-amelia, ectodermal dysplasia, hypoplastic lacrimal ducts and sacs opening toward the exterior, peculiar face, and developmental retardation (46) Bilateral preauricular sinuses, Waardenburg syndrome without a white forelock with syndactyly, absence of the fourth left toe, and dacryocystitis (47) Complex congenital heart defect, membranous anal atresia without fistula, distal limb hypoplasia, partial cutaneous syndactyly between second and third toes, and a left preauricular pit

BOR is caused by mutations in the human EYA1 gene

Branchio-otic (BO) syndrome (35) Branchio-oto-ureteral syndrome (36) Branchio-oto-costal syndrome (37) Branchio-oculo-facial syndrome (38)

Hemifacial microsomia syndrome

Lip pits Bilateral defects, male transmission Tetralogy of Fallot and clinodactyly Ectodermal dysplasia Waardenburg syndrome Incomplete trisomy 22 (48)

Complete trisomy 22 (50)

Primitive and low-set ears, bilateral preauricular pit, broad nasal bridge, antimongoloid palpebral fissures, macroglossia, enlarged sublingual glands, cleft palate, micrognathia, clinodactyly of the fifth fingers, hypoplastic fingernails, hypoplastic genitalia, short lower limbs, bilateral sandal gap, and deep plantar furrows

CONCLUSION Preauricular sinuses are usually asymptomatic and isolated, but may still invoke management and evaluation questions. Symptomatic sinuses that drain fluid (i.e., infected) need to be cultured and treated with appropriate antibiotics. If infection recurs, surgical removal is advisable. Referral for meticulous excision to an experienced head and neck surgeon is essential to effect proper removal of the sinus. Only if the sinus is part of a syndrome or associated with other abnormalities must a renal sonogram be performed. The genetics of preauricular sinuses and their associated

Two families reported

Branchio-oculo-facial syndrome and BO/BOR syndromes are distinct entities (39)

No inner ear abnormalities are identified on computed tomography (CT) scans (43) Three generations of male-to-male transmission reported Autosomal dominant transmission

A female infant with growth failure, microcephaly, hypertelorism, epicanthal folds, 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) One case reported. The child developed signs of congenital heart disease and died at the age of 10 weeks

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