Goldenhar syndrome

A 7-day-old female neonate presented after an uncomplicated prenatal course and delivery with a left anterior neck mass that had been present since birth. The remaining physical findings were unremarkable. In particular, no dysmorphic features, cleft lip, cleft palate, or hypoplastic mandible were present. The mass was initially believed to be either a thyroglossal duct cyst or fibroepithelial polyp. A computed tomography (CT) scan revealed a 1-cm, heterogeneous, pedunculated soft tissue mass in the anterior lower left neck that extended into the superficial subcutaneous tissue. A single-contrast barium swallow did not show a connection between the mass and the esophagus.

The mass was removed 5 months later for diagnostic and cosmetic reasons. It had enlarged to 1.5 cm, and it was located on the anterior aspect of the sternocleidomastoid muscle inferior to the hyoid bone. Intraoperatively, a cartilaginous pedicle was found that did not involve the deeper neck structures (ie, no vascular or pharyngeal involvement), and the lesion was suspected to be a "branchial cleft anomaly."

Grossly, the mass was pedunculated, fleshy, and covered with intact skin. No epidermal pit or pore was evident. Microscopically, the mass was lined by skin with hair follicles, pilosebaceous units, and eccrine glands. The soft tissue core was composed of immature cartilage and surrounded by adipose tissue (Figure, A through C). An elastin stain highlighted the elastic fibers surrounding the individual chondrocytes (Figure, C).

What is your diagnosis?

Pathologic Diagnosis: Wattle (Congenital Cervical Tragus)

Wattle, OT congenital cervical tragus, is a term coined by Clarke1 to describe an unusual skin appendage found on the neck analogous to growths on the dewlaps of birds (turkeys, roosters, etc). Alternative names such as supernumerary or heterotopic tragus reflect the embryogenesis of the anomaly, whereas terms such as accessory auricle, rudimentary ear, supernumerary pinna, and polyotia are inaccurate and misleading as to the wattle's developmental origin.2

Wattles usually present at birth on the anterolateral neck as fleshy, pedunculated masses,2 but sometimes become clinically apparent after the first few years of life.3 Congenital tragi are much more common in the preauricular region, whereas the neck is an unusual presenting site.4 Congenital tragi can occur sporadically, be bilateral in nonsyndromic cases/ or be associated with congenital syndromes, particularly Goldenhar syndrome (oculo-auriculo-vertebral spectrum). In syndromic cases they follow a quasi-linear distribution from the pretragal area to the mandibular angle and to the anterior margin of the sternocleidomastoid muscle.6 Children with Goldenhar syndrome usually present with bilateral tragi and clinically conspicuous dysmorphic features/ Furthermore, congenital tragi have a 2:1 male-to-female preponderance,4 having been associated with other mandibular arch anomalies such as cleft lip or palate, and having a yet-undefined familial inheritance pattern.8

The embryogenesis of congenital tragi is controversial: origins from a branchial remnant" or the auricular cartilage1 are the major developmental theories. Both theories agree that accessory tragi are most likely derived from a developmental aberration of the first branchial cleft, which originates in the first hillock of the first branchial (mandibular) arch.4,6,10 Accessory tragi do not usually communicate with structures of the internal auricle or the deep neck. However, communication with a branchial cyst or sinus, the platysma, or the sternocleidomastoid muscle can occur and should be excluded by radiographie studies (ie, barium swallow, computed tomography) before surgical exploration.3 Surgical excision is performed primarily for diagnostic and cosmetic reasons. The main clinical sequelae are chondritis or chondrodermatitis related to inadequate excision of the cartilaginous plate.2

Grossly, wattles are fleshy masses without pits or pores. Histologically, they have a central plate composed of immature elastic cartilage and are surrounded by adipose tissue, hair follicles, pilosebaceous units, and eccrine glands. The overlying epidermis is intact.1-6, 8-10 The elastic fibers that surround individual chondrocytes can be highlighted with an elastin stain.

The differential diagnosis of the wattle is broad, and it includes branchial cleft and thyroglossal duct cysts, thymic cyst, hair follicle nevus, congenital midline hamartoma, fibroepithelial polyp, epidermoid cyst, and squamous papilloma. Branchial cleft cysts are located laterally and are lined by upper respiratory epithelium; they contain seromucinous glands and have a shallow epidermal pore. However, thyroglossal duct cysts are located anteriorly and may contain thyroid follicles. Thymic cysts are usually not congenital, are fluid filled, and are lined with stratified squamous epithelium. Wattles lacking the characteristic cartilaginous plate can be confused with hair follicle nevi, and both lesions can coexist in the same mass. Congenital midline hamartomas are found on the chin, and they have a prominent skeletal muscle component. Epidermoid cysts, squamous papillomas, and fibroepithelial polyps do not usually present differential diagnostic difficulties.

The wattle is a rare, benign, congenital, syndromic or nonsyndromic neck mass of infancy and childhood. The cartilaginous plate, although not always present, is characteristic of this entity, helping to distinguish it from its differential diagnoses. Finally, the pathologist should be aware of its association with other branchial (mandibular) arch anomalies and with clinical syndromes such as Goldenhar syndrome.

References

1. Clarke IA. Are wattles of auricular or branchial origin? Br J Plast Surg. 1976; 29:238-244.

2. Sebben JE. The accessory tragus: no ordinary skin tag. J Dermatol Surg Oncol. 1989;15:304-307.

3. Bendel E. A wattle (cervical accessory tragus). Otolaryn Head Neck Surg. 2004:121:1-123.

4. Kuldeep T, Cooper PH. Familial occurrence of accessory tragus. J Pediatr Surg. 1981:16:725-726.

5. Miller TD, Metry DM. Multiple accessory tragi as a clue to the diagnosis of the oculo-auriculo-vertebral (Goldenhar) syndrome. J Am Acad Dermatol. 2004; 50:11-13.

6. Cosman B. Bilateral accessory tragus. Cutis. 1993;51:199-200.

7. Lindgran VV. Bilateral cartilaginous remnants (branchial appendages). Plast Reconstr Surg. 1956; 17:304-308.

8. Christensen P. Wattle: an unusual congenital anomaly. Arch Dermatol. 1985;121:22-23.

9. Jensen T, Romiti R, Altmeyer P. Accessory tragus: a report of two cases and review of the literature. Pediatr Dermatol. 2000;17:391-394.

10. Heffner DK. The ear and temporal bone. In: Stocker JT, Dehner LP, eds. Pediatric Pathology. Vol 1. Philadelphia, Pa: Lippincott; 1992:491-492.

Chad R. Rund, DO; Steven W. Galyon, MD, MS; Edgar C. Fischer, MD, PhD

Accepted for publication July 12, 2004.

From the Departments of Pathology (Drs Rund and Fischer) and Otolaryngology (Dr Galyon), University of New Mexico School of Medicine, Albuquerque.

The authors have no relevant financial interest in the products or companies described in this article.

Corresponding author: Chad R. Rund, DO, Department of Pathology, University of New Mexico School of Medicine, BMSB 335, 915 Camino de Salud, Albuquerque, NM 87131 (e-mail: crund@salud.unm. edu).

Reprints not available from the authors.

Copyright College of American Pathologists Dec 2004
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