Congenital midline cervical cleft is a very uncommon malformation of the anterior neck, with less than 100 cases reported in medical literature. Herein we present a case of a female neonate with this anomaly. A detailed description of the macroscopic and microscopic characteristics is performed. As it is derived from the natural history of the lesion, prompt clinical diagnosis, and operative treatment during early infancy predispose to a better aesthetic and functional prognosis.
Congenital midline cervical cleft is an uncommon malformation of the anterior neck with less than 100 cases reported [
A female neonate presented with a midline cervical lesion after birth. She was born at the 37th gestation week by caesarian section due to breech presentation and maternal uterine leiomyoma, and weighted 3.010 g. Her parents were healthy and unrelated. There were no karyotypic anomalies. Cervical and spine ultrasound were normal.
The cervical lesion had the configuration of a linear cleft with a cephalocaudal orientation, extending from the level below the hyoid bone to the suprasternal notch with a length of 2 cm and width of 0.5 cm (Figure
Macroscopic appearance of congenital midline cervical cleft after birth: composed clearly of a superior skin tag, an inferior short caudal sinus and a mucosal sulcus in between (a). Neck extension produces webbing of the skin between the cleft and the mandible (b).
Surgical excision of the cleft was performed at the age of one month. A longitudinal elliptical incision was performed at the edges of the lesion on healthy skin margins. Special care was given to the complete excision of the caudal sinus and the underlying cephalocaudal fibers which lied under the cleft in the subcutaneous tissue. Continuous absorbable suture was used on a primary closure, without using any of the z-plasty techniques that are reported by other authors [
The excised specimen consisted of a 2.3
Macroscopic appearance of the excised specimen. The probe is inserted in the caudal blind sinus.
The cephalic papule represented a striated muscle overgrowth covered by stratified squamous epithelium with surface parakeratosis (Figures
(a) The cephalic papule represented wide bundles of striated muscle covered by stratified squamous epithelium with surface parakeratosis. The arrow shows the transition towards normal skin displaying adnexal structures at the cephalic end of the specimen. The sign “*” marks the area shown in higher magnification in (b) (
The linear macroscopic indentation of the epidermis corresponding to the main body of the malformation was covered by stratified squamous epithelium with surface parakeratosis, and was devoid of adnexal structures. The edges of the indentation were marked by the presence of bundles of striated muscle, surrounding the adjacent outer normal skin adnexae (sweat ducts and hair follicles). Another prominent characteristic was the presence of striated muscle in the dermis (Figures
(a) On low power view (
The surface portion of the duct at the caudal end of the cleft was lined by stratified squamous epithelium with surface parakeratosis (Figures
(Top panel) Low power view of the caudal duct (
The pathologic characteristics of the lesion include skin with parakeratotic epidermis, the presence of striated muscle in the dermis, the absence of skin adnexal structures, and the presence of respiratory type epithelium and seromucinous glands (Table
Pathologic findings of the parts of the congenital midline cervical cleft.
Congenital midline cervical cleft portion | Epithelial structures | Mesenchymal structures |
---|---|---|
Cephalic skin tag | Stratified squamous epithelium with parakeratosis | Striated muscle overgrowth |
| ||
Midline cleft | Stratified squamous epithelium with parakeratosis and no adnexae | Bundles of striated muscle |
| ||
Caudal end duct | Squamous epithelium with parakeratosis superficially |
Seromucinous glands |
After a follow-up period of 8 months the patient has a linear cosmetic scar without contracture of the adjacent skin of the neck. During this period the parents were asked to perform stretching exercise manipulation of the neck and apply a scar healing cream of hyaluronic acid.
Congenital midline cervical cleft, medial cleft, median fissure of the neck, congenital midline cervical cord, midline cervical webbing, and pterygium colli medianum are many different names given to a malformation that has been reported only 50 times in the English medical literature [
There is a spectrum of clinical presentations [
The midline cervical cleft may be a solitary deformity, but there are cases where it is combined with thyroglossal duct cyst, ectopic bronchogenic cyst, branchial cyst, midline hemangioma, ectopia cordis, cleft lip, mandible or tongue, cleft sternum, absence of hyoid bone or thyroid cartilage, or congenital heart disease [
Different theories have been proposed on the embryological origin of the congenital midline cervical cleft. Most investigators believe that the defect is the result of fusion failure of the first and second branchial arches in the midline [
Improper interaction between ectoderm, and mesoderm which may explain the absence of skin adnexal structures, faulty differentiation of mesenchymal tissue, amniotic adhesions, vascular anomalies, exteriorization of a thyroglossal duct remnant and increased pressure in cervical area from the pericardial roof have been also proposed as hypotheses for congenital cleft formation [
The proper description of the pathology of a typical congenital midline cleft should be the description of three different anatomic areas. The superior skin tag part may present normal skin, or stratified squamous epithelium with parakeratosis. Presence of cartilage or skeletal striated muscle has been reported [
Stratified squamous epithelium with surface parakeratosis, continues all the way down the main part of the lesion; combined with the absence of adnexal structures in the underlying dermis, is the hallmark of histological presentation of the major part of the malformation [
The inferior sinus tract consists of pseudostratified ciliated columnar epithelium with seromucinous glands [
Surgical removal of the cleft is the treatment of congenital midline cervical cleft. Surgery is indicated for cosmetic reasons and the prevention of cervical contracture. Many authors suggest as proper for surgery the age before the second year of life, with earlier repair indicated in more severe cases [
In conclusion there are topics to point towards; prompt diagnosis is significant and should not be omitted. Secondary to that, surgical treatment should not be postponed but performed in early infancy. In this age, primary closure technique may have increased possibilities of success.
The authors declare that they have no conflict of interests.