Congenital midline cervical cleft: An easily misdiagnosed disease

Abstract

Congenital midline cervical cleft is a rare congenital disease. The disease is often misdiagnosed as a branchial cleft deformity, thyroglossal duct cyst, or other skin diseases. It has the following characteristics: skin defect at the midline of the anterior neck, a skin tag at the upper end of the lesion, and a blind sinus tract at the caudal aspect with or without mucoid discharge. Treatment is usually for aesthetic purposes; therefore, early surgical en bloc resection with Z-plasty or W-plasty is recommended to reduce recurrence and scar formation.

Congenital Midline Cervical Cleft and Thyroglossal Duct Fibrous Cord-Like, is There a Mixed Presentation?

“…Congenital midline cervical clef is a rare congenital disease that is considered a variant of the cleft category number 30 of the Tessier classification system of craniofacial defects. 5,9 CMCC is diagnosed by clinical examination, and its main feature is a congenital cleft scar at birth associated with a protruding lesion at the midline of the anterior region of the neck, between the chin and the suprasternal notch. 1,3,11,12 This disease may present with atrophy of the skin at any level between the chin and sternal notch; a nipple-like projection (skin tag) at the upper end of the fissure; a blind sinus tract at the caudal aspect, which may discharge mucoid material; and a subcutaneous cord-like fibrous thickening that may cause webbing.…”

“…The regional site of the sinus tract is important in distinguishing CMCC from a thyroglossal fistula, as the tract extends caudally in the former and cranially in the latter. 3,5,9,13 Malformations in the thyroid gland and mandible such as bifid mandible and micrognathia 2,6,8,10,13 were also ruled out and the presence of a fibrotic thyroglossal duct-like with no blind sinus at the lower portion of the scar gave to this case a singular presentation offering characteristics of the CMCC and the thyroglossal duct fistula at the same time what made the medical team organize a treatment strategy including both.…”

“…Congenital midline cervical clef is a rare congenital disease that is considered a variant of the cleft category number 30 of the Tessier classification system of craniofacial defects 5,9 . CMCC is diagnosed by clinical examination, and its main feature is a congenital cleft scar at birth associated with a protruding lesion at the midline of the anterior region of the neck, between the chin and the suprasternal notch 1,3,11,12 …”

“…In addition, associated abnormalities of the thyroid gland and other related anomalies as congenital cysts and torticollis should be excluded by ultrasonographic examination. The regional site of the sinus tract is important in distinguishing CMCC from a thyroglossal fistula, as the tract extends caudally in the former and cranially in the latter 3,5,9,13 …”

“…Classically, there is a midline craniocaudal scar from the chin to the end of the neck, with a skin tag superiorly and a short sinus on its inferior margin, generally with 1.0 to 1.5 cm length 1,4,6–8 . Its misdiagnosis with other skin diseases, in special thyroglossal duct cyst or branchial cleft deformity may represent a clinical trouble for patients’ management 4,9,10 . In this report we describe a case of CMCC and a brief review of this rare condition distinguishing from other congenital diseases, presenting a singular surgical aspect—concomitant fibrous cord, lije thyroglossal duct path recognized during surgery.…”