Eur J Plast Surg (2009) 32:263–266 DOI 10.1007/s00238-009-0342-7
CASE REPORT
Congenital midline cervical cleft presenting as neck contracture Umesh Sharma & Milind M. Mehta & Vijay Y. Bhatia
Received: 6 October 2008 / Accepted: 3 June 2009 / Published online: 26 June 2009 # Springer-Verlag 2009
Abstract Congenital midline cervical cleft is a rare congenital anomaly involving the neck. This developmental anomaly presents at birth with a ventral midline defect of the neck extending for a variable distance from the mandible to the manubrium with a superior nipple-like skin projection and a subcutaneous fibrous cord. Other associated clinical features include thyroglossal duct cysts, cleft lip/mandible/sternum, mandibular spurs, and or bronchogenic cysts. Initially, the cleft is covered by an exudative thin desquamating epithelium which toughens and dries during the following weeks, creating scarring. Caucasian females are more commonly affected than other races. Most of the earlier described cases were in initial years of life. Available literature highlights the possible long-term sequelae but only a few reports have described such a case and associated problems. Through this case report, we describe a delayed and neglected case that presented with neck contracture and protruded chin. Here, we have tried to show the long-term sequelae when the lesion is allowed to heal secondarily during earlier life. In delayed presentation, confusion in diagnosis may occur due to lack of typical features. Most of these lesions have healed with scarring leading to contractures and mandibular abnormalities. Keywords Cervical cleft . Neck contracture
Introduction Congenital midline cervical cleft is a rare anomaly of the anterior neck and appears to occur as a result of failure of U. Sharma : M. M. Mehta : V. Y. Bhatia (*) V.S.G.H, Ahmedabad, India e-mail:
[email protected]
fusion of the paired first and second branchial arches in the anterior midline during embryogenesis [1]. The diagnosis is typically made on the basis of the lesion’s characteristic clinical presentation at birth. Histologically, the cleft usually consists of a stratified keratinized squamous epithelium with hyperkeratosis, dermal fibrosis, and few or no skin appendages. Surgical intervention is necessary to avoid potential long-term complications, such as contractures with limitation of neck mobility [2] and changes in the mandible due to traction. Possible long-term sequelae in neglected cases have been published but detailed description of such a case has been reported only by a few. We present here one case of congenital midline cervical cleft in a teenager presenting with neck contracture and protrusion of chin, and we discuss the embryology, presentation, and surgical management of this unusual condition.
Case report A 14-year-old Asian patient presented with inability to extend his neck. The patient complained of a thickened band-like structure at the midline of the anterior neck from the mandible to the upper chest. History revealed an unremarkable pregnancy and delivery with no congenital problems in the family. At the time of birth, the patient had a midline lesion in the form of a band of fibrous tissue from chin to upper chest. There was a raw area at the center of the lesion; this was allowed to heal by secondary intention and no specialist consultation was sought. At 3 years of age, the wound healed and a small sinus with occasional discharge remained. By the age of 6 years the sinus also healed, but the patient’s range of extension decreased gradually and the fibrotic band of tissue in the midline of neck progressively thickened and shortened.
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Fig. 1 Band of fibrotic tissue at midline of entire neck with prominent chin
On examination, there was a midline subcutaneous band of fibrous tissue, from chin to upper anterior chest. The skin at the center of the neck showed healing by secondary intention and associated discoloration. The patient had severe difficulty when attempting to extend his neck (Figs. 1 and 2). No other associated abnormalities were noted, except some protrusion of the mandible. A magnetic resonance imaging (MRI) scan of the neck and chest was done which showed a midline subcutaneous band of fibrous tissue from the mandible to manubrium; there were no other associated abnormalities (Fig 3). The diagnosis of midline cervical cleft was made and it was decided to totally excise the band of fibrous tissue and the overlying hypopigmented scar tissue with closure by multiple Z-plasty. The boy and his parents were told that a genioplasty would be required at a later stage. Intraoperatively, the upper end of the fibrotic tissue band was attached to the periosteum at the lower end of the
Fig. 2 Lateral view with inability to extend the neck
Fig. 3 MRI scan showing band of fibrotic tissue from mandible to manubrium
mandible, thus distorting its shape due to chronic traction. There was small midline crest at the lower border of mandible. The inferior end of the band was merged with the periosteum over the manubrium extending up to the manubriosternal joint (Fig 4). The whole of the fibrous band along with the periosteum at the superior and inferior limits was excised together with overlying scarred adherent skin. The resultant defect was closed by the multiple Zplasty technique. The postoperative period was uneventful, except congestion at apex of upper flap, which resolved spontaneously (Fig 5). Histology demonstrated that the
Fig. 4 Intraoperative picture showing fibrotic tissue band
Eur J Plast Surg (2009) 32:263–266
Fig. 5 Result on the third postoperative day
fibrous band was lined by stratified keratinized squamous epithelium with parakeratosis and without skin appendages. The patient was discharged on the fourth postoperative day.
Discussion The congenital midline cervical cleft (CMCC) is a rare developmental anomaly of the neck. Bailey [3] was the first to describe this abnormality in 1924. The plastic surgery literature has few reports of this condition; there are some published reports in the otolaryngology journals. Most of the cases described were Caucasian females [4]. The ideal treatment is to reconstruct them in infancy. Long-term sequelae in neglected cases have been presented but the detailed description of such a case and the associated problems have been reported by a few authors. In this presentation, we describe a neglected case in an Indian male; he had developed long-term sequelae in the form of neck contracture and chin protrusion. Embryologists differ in their opinions regarding occurrence of congenital midline cervical cleft syndrome. Impaired or delayed midline fusion of the first or second branchial arches [4, 5] seems to be the most acceptable etiology. Other proposed theories are: amniotic adhesions, vascular anomalies [6], and faulty differentiation of mesenchymal tissue [7]. Isolated midline cervical cleft has been reported to occur due to the deficient or delayed migration along the second (hyoid) arch. Midline deformities such as a sacral tuft and a minor tongue-tie may be
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associated with chromosomes 13/14 de novo Robertsonian translocations [8]. Ventral outgrowth of skeletal muscle or structures above cleft which are raised into an anterior vertical structure can be the explanation for the nipple-like skin tag at the superior end of the cleft. The etiology of the caudal sinus is obscure. Histologically, the hallmark of clefting consists of stratified keratinized squamous epithelium with hyperkeratosis, dermal fibrosis, and little or no skin appendages. The sinus tract consists of pseudostratified ciliated columnar epithelium with seromucinous glands and the nipple-like portion, which consists of normal skin, but it may also contain cartilage and skeletal muscle. The CMCC can present with many features of variable severity, e.g., a midline defect of anterior neck skin, a superior nipple-like skin projection with a sinus at inferior end [9], and a subcutaneous fibrous cord. Cervical clefts are usually visible extending anywhere from the lower lip to the suprasternal notch, and they mainly involve the skin and deeper neck tissues. Initially, the cleft is covered by an exudative thin desquamating epithelium which toughens and dries during the following weeks; this creates scarring and contracture. The covering epithelium lacks sweat glands, sebaceous glands, and hair follicles. The cranial end of the cleft has a nipple-like protuberance while the caudal end has an opening into a sinus tract where mucoid secretions can be seen. The differential diagnosis includes branchial cleft anomaly, thyroglossal duct cysts (or fistula), and ectopic bronchogenic cysts. CMCC can be associated with various other anomalies such as thyroglossal duct cysts, absent hyoid bone, dermoid cysts, and bronchogenic cysts. There can be clefts at other places, e.g., the lip, tongue, mandible, or manubrium [10]. For proper treatment of the condition, investigations such as an ultrasonogram of the neck and chest and/or MRI scan should be done to rule out other associated abnormalities. The mainstay of treatment is excision of the lesion and closure of the skin defect by local skin flaps. Surgery should be done during infancy to prevent contractures and for cosmetic reasons [11]. The resultant defect after excision of the lesion should be closed the by multiple Zplasty technique [12–14]. Inclusion of platysma in the flaps improves the circulation and prevents tethering of platysma [15]. Other techniques described for closure of the defect are linear closure [15], use of tissue expanders, elliptical incision, and using the fingerlike projection in closure [9], double opposing Z-plasties where skin and subcutaneous fat and platysma muscle are mobilized and transposed separately [14]. Linear closures should be avoided as these do not improve the mentocervical angle; they are poor in cosmetic appearance and recurrence is higher. A Z-plasty allows broken-line closure, reorientation of the defect in the horizontal plane with recreation of a cervicomental angle,
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and, most importantly, a lengthening of the anterior neck skin that aids in preventing recurrent contracture [12–14].
Summary The congenital midline cervical cleft is a rare developmental anomaly of the neck, occurring mainly in white females. We report a case of a teenage Asian male, who presented with the inability to extend his neck due to a thickened band like structure going from the chin to the upper chest wall with protrusion of the chin. Here, we have discussed various presentations, clinical features and associations, embryology, histological features, and the treatment in brief. Due to the extremely low incidence of this condition, delay in diagnosis and improper treatment are possibilities. Delayed presentation may not present the typical features due to secondary healing and contractures; this can further confuse the picture.
References 1. Mlynarek A, Hagr A, Tewfik TL, Nguyenc VH (2003) Congenital mid-line cervical cleft: case report and review of literature. Int J Ped Otorhinol 67(11):1243–1249 Nov 2. Van Duyn J (1963) Congenital midline cervical cord with report of a case and a note on the etiology of congenital torticollis. Plast Reconstr Surg 31:576–586
Eur J Plast Surg (2009) 32:263–266 3. Bailey H (1924) Thyroglossal cysts and fistulae. Br J Surg 12:579–589 4. Gargan TJ, McKinnon M, Mulliken JB (1985) Midline cervical cleft. Plast Reconstr Surg 76(2):225–229 5. Amr M (1964) Cervical cysts, sinuses, and fistulae of brachial, pharryngothymic duct and thyroglossal duct origin. Br J Plast Surg 17:148–167 6. Braithwaite F, Watson J (1949) A report on three unusual cleft lips. Br J Plast Surg 32:38 7. Godbersen S, Heckel V, Wiedemann HR (1987) Brief clinical report: pterygium colli medianum and midline cervical cleft: midline anomalies in the sense of a developmental field defect. Am J Med Genet 3(27):719–723 8. Agag R, Sacks J, Silver L (2007) Congenital midline cervical cleft, cleft palate. Craniofac J 44(1):98–101 9. Gardner RO, Moss AL (2005) The congenital cervical midline cleft. Case report and review of literature. Br J Plast Surg 58 (3):399–403 10. Monroe C (1966) Midline cleft of the lower lip, mandible and tongue with flexion contracture of the neck. Plast Reconstr Surg 38:312–319 11. Smith RM, Barth PC, Castillo J, Millman B, Wood WE (2006) Congenital midline cervical cleft: a report of 3 cases. Ear Nose Throat J 85(2):119–120 12. Bajaj Y, Dunaway D, Hartley BE (2004) Surgical approach for congenital midline cervical cleft. J Laryngol Otol 118:566–569 13. Cochran CS, Defatta RJ, Brenski AC (2006) Congenital midline cervical cleft: a practical approach to Z-plasty closure. Int J Pediatr Otorhinolaryngol 70(3):553–559 14. Daw JL Jr, Patel PK (2003) Double-opposing Z-plasty for correction of midline cervical web. J Craniofac Surg 14(5):774– 778 15. Franzese C, Hayes JD, Nichols K (2008) Congenital midline cervical cleft: a report of two cases. Ear Nose Throat J 87(3):166– 168
