Congenital Midline Cervical Cleft with Respiratory Epithelium: A Rare Association.

Congenital midline cervical cleft is a rare anomaly and is clinically apparent at birth. Histology of this defect is consistent with the presence of stratified squamous epithelium. However, we present a case of 1-year-old boy with chronic mucocutaneous candidiasis associated with two cysts and presence of focal respiratory epithelium. We attempt to discuss the presentation, the histological differences, and the optimal surgical treatment for the same.

INTRODUCTION

Midline cervical cleft is a rare anomaly of birth, presumably due to the failure of fusion of branchial arch derivatives during fetal development. The rarity of this condition can pose a diagnostic challenge. An appropriate clinical diagnosis and surgical treatment is essential to ensure optimal functional and esthetic outcomes. We present a case of 1-year-old boy with a congenital midline cervical cleft treated surgically.

CASE REPORT

A 1-year-old boy presented to us with complaints of a reddish patch on the anterior aspect of his neck with deficient skin over the lesion since birth. There was no associated history of any discharge, trauma, or bleeding. On examination, a single anterior cervical midline skin defect measuring 3 cm × 2 cm was present. There was an external opening of a sinus seen at the inferior margin of the defect [Figure 1]. No discharge was reported from the sinus opening. A diagnosis of midline cervical cleft was made, and the patient was taken up for surgery. The entire lesion along with the sinus tract down to the pretracheal fascia was excised. The sinus opening was connected to two small cysts inferiorly, and hence, the dissection was extended till manubrium sterni for complete excision. The skin defect was closed by a Z-plasty to avoid a contracture and flexion deformity of the neck [Figure 2]. Histology revealed two cystic lesions. The smaller cyst was lined by squamous epithelium, while the larger cyst was lined mostly by squamous epithelium and focally by respiratory epithelium [Figure 3]. The subepithelial stroma shows few serous acini. There was no evidence of thyroid tissue or lymphoid follicles. The features were consistent with congenital midline cleft cyst. On follow-up, the wound showed good healing and the child is asymptomatic.

Figure 1

The midline defect with surgical markings for Z-plasty

Figure 2

Postoperative surgical wound

Figure 3

Histopathology confirming respiratory epithelium

DISCUSSION

Congenital midline cervical cleft is a rare congenital anomaly with few reported cases in English literature. Embryogenesis is uncertain and has been hypothesized to be due to failure of the fusion of the first and second branchial arches.[1] An erythematous, vertical, and atrophic skin defect in midline of neck which lacks adnexal elements, a superior skin tag, and an inferior blind ending sinus are the usual group of presenting features. A subcutaneous cord often longer than the overlying skin defect is usually present and is of surgical importance for complete excision. The above findings are credited to Ombredanne's work in 1949.[2]

The cleft is in the midline extending anywhere between mandible and sternum. The defect may have a discharge at birth which generally stops with age as the overlying epithelium toughens and dries up. Histologically, the lesion consists of skeletal muscle, a fibrous cord, exocrine tissue, and absence of adnexal skin elements such as hair or sebaceous glands.[3]

The clinical diagnosis of chronic mucocutaneous candidiasis (CMCC) can be confirmed by unremarkable but consistent histopathological features. Diagnostic feature is a stratified squamous epithelium covering the defect with absence of skin appendages. The skin tag is marked with normal epidermis and skeletal muscle bundles. The sinus tracts are usually lined by pseudostratified columnar epithelium and may demonstrate seromucinous salivary glands. However, the presence of respiratory epithelium in the cyst wall has been reported only in six cases till now, and our case report is an addition to this group.

The importance of the presence of respiratory epithelium in these seven cases and two cases of tubuloalveolar glands is to emphasize the possibility of an alternative theory of embryopathogenesis of CMCC.[4] It could be a result of ectopically placed respiratory epithelium or maldevelopment of the salivary glands, instead of the simple hypothesis of branchial arch deformity.[5]

A slight male preponderance has been noted in one of the series. Other cervical anomalies such as absence of thyroid, thyroglossal cyst, midline hemangioma, branchial cyst, and others have been listed in few case series with an incidence of 1%–2%.[6] Ultrasound or a detailed investigation with a magnetic resonance imaging can be done if any anomalies suspected.

Treatment consists of complete surgical excision and closure of skin defect. Multiple Z-plasties may be used for larger defects to avoid scar or cicatrix formation. No consensus on ideal time of surgery has been made; however, most authors advocate an early intervention to reduce complications.

Delayed or inadequate repair may lead to growth of the fibrous cord and complications such as contracture, torticollis, or limited extension. Exostosis of mandible or sternum may be palpated due to traction on the mandible by the cord. Diagnosis and surgical correction before one year of age would minimize the complications.[7]

CONCLUSION

Congenital midline cervical clefts are rare fusion anomalies which need to be diagnosed promptly and treated as early as 1 year of age to avoid complication. A complete excision and a tension-free skin closure yield optimal results.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.