Congenital midline cervical cleft: a report of two cases.
Congenital midline cervical cleft is an uncommon malformation of the anterior neck. We report the cases of two patients with such an anomaly who had been born within 10 days of each other at a regional hospital in upstate New York. Fewer than 1 O0 cases of congenital midline cervical cleft have been reported in the literature, and to the best of our knowledge, none of the other reported cases occurred so close to each other in terms of time and location. Diagnoses in both cases were established by clinical observation soon after birth. No likely epidemiologic commonalities between the two patients were found. Head and neck surgeons should be familiar with these malformations because early surgical excision is critical. Both of our patients were surgically treated at an early age, one with a Z-plasty and one with a straight closure. In both cases, the patients exhibited good functional and cosmetic results at 5 years of age.
Midline cervical cleft is a rare congenital malformation of the anterior neck. It consists of a midline groove of atrophic, erythematous skin with a nipple-like projection at the cephalic end and an inferiorly oriented sinus tract at the caudal end.
The first description of midline cervical cleft was published in 1848 by Luschka. (1) Other early reports were published by Bailey (2) in 1924 and by Morton and Jordan (3) in 1935, and this abnormality was fully described in 1946 by Ombredanne (4) in his textbook of pediatric surgery. Since then, approximately 50 cases have been reported in the literature, (5) mostly in white females. (6) However, the incidence of midline cervical cleft may actually be higher because primary care physicians have often misdiagnosed it as a thyroglossal duct or branchial cleft abnormality. (7)
The pathogenesis of midline cervical cleft is highly disputed. According to the most recent hypothesis, it is caused by an impaired midline fusion of the first branchial arches. (5) Histologically, the lesion consists of skeletal muscle, a fibrous cord, and exocrine tissue. Early diagnosis is critical because complete surgical excision is required for good cosmetic results and to avoid contracture of the neck. Z-plasty has been recommended as the treatment of choice, although other surgical techniques have been used with good results. (6-9)
In this article, we describe two new cases of midline cervical cleft that were unique in that the patients were born at roughly the same time and they lived in roughly the same area.
Patient 1. In October 1993, a 3-week-old white girl was seen for evaluation of a midline neck lesion that had been noted at birth. Following a normal pregnancy, an attempt had been made to deliver the child via a vaginal birth after cesarean section (VBAC). However, the mother's uterus ruptured during the attempt, and she underwent an emergency cesarean section. The child was the mother's second. The family had no history of congenital abnormalities.
On examination, a short nipple-like projection was observed overlying the hyoid bone (figure, A). Inferior to this skin nubbin was a 1.2-cm vertical groove that contained denuded epithelium and a sinus tract of approximately 0.7 cm. The tract was oriented in a cephalocaudad direction and did not communicate with any deep structures. No discharge was expressed from the tract, and no fibrous band was felt on palpation. The mandible and central symphysis area were deficient, and the entire mentum was underprotruded and featured palpable clefting. The diagnosis of midline cervical cleft was made.
Two months later, the cleft measured 2.5 x 0.8 cm, and there was some periodic drainage of clear liquid. Approximately 3 weeks later, when the patient was 15 weeks old, she underwent excision of the cleft under general anesthesia. The cleft was excised in a vertical direction, and all the mucosal-appearing tissue was removed. A fibrous band extended superiorly to the level of the mentum, where it was attached to an osteophytic nipple at the base. Prior to excision, the small sinus tract was injected with a tiny amount of methylene blue to fully outline it. A four-flap Z-plasty was created to carry the upper flap below the level of the mandible and the lower flap above the sternal notch. The flaps were cut to include skin, subcutaneous tissue, and platysma to prevent platysmal bands from creating a tethering effect.
Pathologic examination revealed that the nipple-like projection was covered by squamous epithelium. The cleft was lined with squamous mucosa, and skeletal muscle was present in the deep dermis and subcutaneous tissue. The sinus tract was lined with ciliated respiratory epithelium.
Two years later, a mild tether had formed superiorly and some clefting had persisted in the central mandible. The patient underwent revision surgery to eliminate the tethering effect and remove some scar formation. At the age of 5 years, her cosmetic result was acceptable.
Patient 2. Later in October 1993, a 1-day old white girl was seen for evaluation of a midline neck mass that had been noted at the time of vaginal delivery. She had three older siblings, one of whom had a congenital bicuspid aortic valve.
The patient's lesion consisted of a vertical skin tag that measured approximately 0.3 x 0.3 cm (figure, B). A central raised area and two small lateral flanges of 0.2 cm each were also present. Below the tag lay a denuded, cephalocaudally oriented epithelial groove that terminated approximately 1 cm above the sternal notch. Present in the groove was an inferoposteriorly oriented blind pit that measured 0.7 cm in depth. No discharge was expressed from the blind tract, and no fibrous band could be palpated. Findings on the remainder of the examination were unremarkable. A heart murmur was noted at 2 weeks of age, and it was found to be caused by two small ventricular septal defects.
When the patient was 3 months old, the lesion was removed under general anesthesia. An elliptical incision of the entire defect was carried out down to the pretracheal fascia. The dissection followed a fibrous cord underlying the sinus. The end of the sinus was found by probing it with a lacrimal probe, and the probe and tract were removed together. The fibrous cord was completely removed from its tether at the mentum and the manubrium. The infrahyoid muscles were then closed to recreate the anatomic plane. The incision was closed linearly.
Pathologic examination revealed that the skin tag was covered by unremarkable squamous epithelium, and normal complements of skin appendages surrounded a fibrous core. The cleft was lined with squamous epithelium without skin appendages. The upper half of the sinus tract was covered with keratinizing squamous epithelium, and the lower half with nonciliated pseudostratified columnar epithelium. At the bottom of the sinus tract was a small cluster of serous glands that were lined with columnar cells with clear cytoplasm and basally located nuclei.
Four months postoperatively, the wound was well healed and flat, although a small web had developed that was noticeable only when the skin was stretched superiorly. Eight months later, the web had completely disappeared, and by the time the patient was 5 years old, the scar was barely noticeable and no web or tether had developed.
Midline cervical cleft has been reported in association with clefts of the lower lip, mandible, and tongue, (3) and it is considered by many authors to lie along the broad spectrum of branchial cleft anomalies. (10,11) In its purest form, this malformation consists of a midline groove of atrophic, erythematous skin with no skin appendages. It features a skin tag or nipple at the cephalic end and an inferiorly oriented sinus tract at the caudal end. The sinus tract may discharge mucoid material. A midline cervical cleft may arise at any level along the midline of the neck in the cutaneous and deeper tissue. It is almost always accompanied by a subcutaneous fibrous cord that varies in prominence.
Numerous theories have been proposed to explain the pathogenesis of this abnormality. The most recent hypothesis, proffered by Gardner and Moss in 2005, suggests that the defect may arise as a result of impaired midline fusion of the first branchial arches? This results in the accumulation of mesodermal cells from the developing tongue in the neck. As these structures continue to differentiate, they produce the structures that make up the formation of a midline cervical defect: skeletal muscle, salivary gland tissue, and a mucosal surface.
According to reports in the literature, midline cervical cleft should not be treated with linear closure because this will result in scar formation and subsequent neck contractures. (6,8) (However, Maddalozzo et al reported that linear closure of some small clefts have resulted in good cosmetic outcomes. (7) Multiple Z-plasty has been recommended by some as the treatment of choice. (6,8,9) However, other surgical treatments have produced good functional and cosmetic results. One of these alternatives involves making an elliptical incision and splitting the nipple-like protuberance in the midline and sagittal planes; the anterior portion of the protuberance can then be used in the closure. (5)
The malformations in our two patients were similar in size and severity. The cleft in patient 1 was closed with a Z-plasty, and the cosmetic result was initially the less satisfactory of the two, as she developed tethering of the neck and a more visible scar. The cosmetic result in patient 2, who underwent the elliptical excision, was more pleasing, as no webs or tethering formed. Nevertheless, both patients exhibited good functional and cosmetic results by the time they reached 5 years of age.
Our two patients had been born 10 days apart at a regional hospital in upstate New York. Their families lived in small cities located 15 miles apart. Epidemiologic links were sought, but none was found. The two families had no consanguinity, and they did not share water systems or food sources. During their pregnancies, neither mother was known to have been exposed to communicable illnesses, radiation, or hazardous substances such as asbestos. Neither mother had any unusual dietary habits, and neither had taken any medications or supplements other than over-the-counter vitamins. Invasive procedures such as surgery or amniocentesis had not been performed during either pregnancy. Both mothers were in good health and had undergone multiple ultrasound examinations, including early ultrasonography at approximately 6 to 7 weeks of gestation. Both pregnancies were uncomplicated until delivery. To the best of their knowledge, members of the two families had never met, and they did not share workplaces or hobbies. Patient 1 had no family history of congenital disorders; patient 2 had a family history of a congenital heart defect.
As far as we know, no other cases of midline cervical cleft have been reported so close together in terms of time and geographic area. We add these two cases to the world literature because we suspect that such cases, which must be recognized at an early age, are underreported.
(1.) Luschka H. Veber Fistula colli congenita. Arch Physiol Heil 1848; 7:25.
(2.) Bailey H. Thyroglossal cysts and fistulae. Br J Surg 1924;12:579-89.
(3.) Morton CB, Jordan HD. Median cleft of lower lip and mandible, cleft sternum and absence of basihyoid: Report of a case. Arch Surg 1935;30:647-56.
(4.) Ombredanne L. Chirurgie Infantile. Paris: Masson; 1946.
(5.) Gardner RO, Moss AL. The congenital cervical midline cleft. Case report and review of literature. Br J Plast Surg 2005;58(3):399-403.
(6.) Gargan TJ, McKinnon M, Mulliken JB. Midline cervical cleft. Plast Reconst Surg 1985;76(2):225-9.
(7.) Maddalozzo J, Frankel A, Holinger LD. Midline cervical cleft. Pediatrics 1993;92(2):286-7.
(8.) Nicklaus PI, Forte V, Friedberg J. Congenital mid-line cervical cleft. J Otolaryngol 1992;21 (4):241-3.
(9.) Amr M. Cervical cysts, sinuses, and fistulae of branchial, pharyngothymic duct, and thyroglossal duct origin. Br J Plast Surg 1964; 17:148-67.
(10.) Fincher SG, Fincher GG. Congenital midline cervical cleft with subcutaneous fibrous cord. Otolaryngol Head Neck Surg 1989; 101(3):399-401.
(11.) Cosman 13, Crikelair GE Midline branchiogenic syndromes. Plast Reconst Surg 1969;44(1):41-8.
Christine Franzese, MD; James D. Hayes, MD; Kristie Nichols, MD
From the otolaryngology-head and neck surgery private practice of James D. Hayes, MD.
Corresponding author: James D. Hayes, MD, 1220 Murray Hill Rd., Vestal, NY 13850. Phone/fax: (607) 21%5487; e-mail: dochayesii@ aol.com