Cervical auricles in a family

ARTICLE

ejd.2012.1678

Auteur(s) : Naoki Oiso naoiso@med.kindai.ac.jp, Akira Kawada

Department of Dermatology, Kinki University Faculty of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama 589-8511, Japan

Accessory auricles are congenital tags or nodules that usually contain a cartilaginous skeleton. Most are 3 to 10 mm in diameter and some can be found only after palpation [1]. They are present on the anterior aspect of the tragus, on the cheek along the line of the mandible, or on the neck along the anterior border of the sternocleidomastoid muscle. They may develop as an isolated autosomal dominant anomaly [1, 2], or as a feature of syndromic associations, such as hemifacial microsomia (oculoauriculovertebral dysplasia or Goldenhar syndrome) [3]. Cervical auricles are accessory auricles on the neck. They develop unilaterally or bilaterally and are up to 15 mm in diameter. We herein describe a boy and his father having cervical auricles.

A 4-day-old boy was referred to us with two asymptomatic nodules above the bilateral sternoclavicular joints. The nodules were seen at birth. A physical examination at 1<strike>-</strike>year of age confirmed the presence of two skin-colored nodules, one 7 mm in diameter on the right side of the neck and another 4 mm in diameter on the left side of the neck (figure 1A). A cartilaginous skeleton was palpable in each nodule. The proband's 51-year-old father had a congenital asymptomatic, skin-colored nodule, 6 mm in diameter, on the right side of the neck and a palpable subcutaneous nodule on the left side of his neck (figure 1B). No other tags were present in the proband or his father. They were otherwise healthy. We believed that the boy and his father had cervical auricles.

Accessory auricles may be present as an isolated autosomal dominant anomaly or as a symptom of syndromic anomalies. As the tragus is derived from the dorsal portion of the first branchial arch, an accessory auricle can develop anywhere along the migratory course of the first branchial arch, from the tragus to the sternoclavicular joint [4]. Defective development of the first and second branchial arches is associated with complex disorders, including hemifacial microsomia and mandibulofacial dysostosis (Treacher-Collins syndrome) [4]. Accessory auricles may be present in these syndromes.

Gao et al. summarized six dominantly inherited, isolated, accessory auricule pedigrees [1]. Yang et al. mapped a locus of non-syndromic accessory auricles on 14q11.2-q12, which differed from the locus identified for hemifacial microsomia [2]. We assume that the difference between isolated and syndromic forms of accessory auricles reflects the action of different genes.

The isolated cervical auricle in this family is probably caused by autosomal dominant inheritance, similar to that of isolated autosomal dominant accessory auricles. The significance was that the boy and his father had similar cervical auricles in the same region. The identification of the genes in isolated autosomal dominant accessory auricle and cervical auricles may show whether isolated facial accessory auricles and cervical auricles are separate entities or genetically related to each other. More studies of familial cervical auricles, as well as of familial accessory auricles, will enhance our understanding of the mechanism behind the development of the first branchial arch in fetus.

Disclosure

Financial support: none. Conflict of interest: none.

References

1. Gao JZ, Chen YM, Gao Y.P. A survey of accessory auricle anomaly. Pedigree analysis of seven cases. Arch Otolaryngol Head Neck Surg 1990 ; 116 : 1194-1196.

2. Yang Y, Guo J, Liu Z, et al. A locus for autosomal dominant accessory auricular anomaly maps to 14q11.2-q12. Hum Genet 2006 ; 120 : 144-147.

3. Mehta B, Nayak C, Savant S, et al. Goldenhar syndrome with unusual features. Indian J Dermatol Venereol Leprol 2008 ; 74 : 254-256.

4. Moss C and Shahidullah H. Complex defects of the first and second branchial arches. In: Burns T, Breathnach S, Cox N, Griffiths C, eds. Rook's textbook of dermatology Vol. 1. 8th ed. Oxford: Blackwell Publishing Ltd, 2010:18.80-18.87.