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Congenital
Midline Cervical Cleft (CMCC) is a very rare congenital disorder of the
anterior neck.
Even though the
embryologic mechanism that accounts for the congenital midline cervical cleft
is not firmly established, most researchers believe that it involves a failure
of the branchial arches to unite in the midline. The main characteristics of
the defect are: (1) a caudally located fistula opening; (2) intermittent serous
fluid discharge in the early neonatal period; (3) nipple-like protuberance of
the cleft in the superior aspect; (4) a widened scar and minimal neck
contracture in later life. Diagnosis is based on these features found at birth.
The method of choice is surgical intervention in the form of Z-plasty
technique. Early treatment is significant to prevent cervical contractures,
scarring, and to achieve beneficial cosmetic results.
Keywords: Congenital midline cervical cleft, Midline
cervical cleft, Congenital neck anomalies, Surgical excision, Z-plasty
DEFINITION
Congenital Midline
Cervical Cleft (CMCC) is a very rare congenital anomaly of the anterior neck.
It appears to occur as a result of a failure of fusion of the paired second
branchial arches in the midline during embryogenesis [1].
INCIDENCE
In 1848, Luschka described the first case of
CMCC, while Bailey reported the first description of this abnormality in 1924.
By 2014 only 205 cases had been documented [2-4].
A female to
male ratio of 2:1 is reported, with a sporadic presentation [5]. Especially
Caucasian females appear to be the most affected [6]. The age of presentation
ranges from birth to 23 years [7].
PATHOGENESIS
The embryo pathogenesis of CMCC has not been
established, although several theories have been proposed, the most widely
accepted being the impaired fusion of the first or second branchial arches
during the third and fourth weeks of embryonic development [8].
The CMCC consists of epidermis, a mucosal surface
skeletal muscle that is superficial to glandular tissue and platysma. In 1949,
Ombredanne et al. suggested that pressure from the pericardial roof on the
developing branchial arches results in pressure necrosis and scarring [9].
Oostrom et al. [10] hypothesized that rupture of a pathological adhesion
between the epithelium of the cardiohepatic fold with that of the ventral part
of the first branchial arch leads to tissue ischemia, again with localized
necrosis and scarring.
However, these theories do not explain the consistent
anatomy of the CMCC or the presence of skeletal muscle and glandular tissue
[6].
Furthermore the atypical development of the first
branchial arch may also provide a possible explanation for the histological
findings. The branchial arches start to form on day 22 in the human embryo. A
horizontal cleft divides the first arch into maxillary and mandibular processes
each side at the midline. On day 26 the mandibular process fuses. A delay in
this process could cause a deposition of ectodermal cells with underlying
mesodermal cells in the ventral side of the neck. These would continue to
modify and form skeletal muscle such as tongue derivative, salivary glandular
tissue and a mucosal surface, thus resulting in the CMCC defect [3,6].
Due to this second theory hair follicles or sweat or
sebaceous glands are absent [1]. It may be concluded that the skin protuberance
could be a vertical excrescence of tongue muscle, since the fibrous cord is
connected to the fibrous median septum of the tongue base; salivary glands in
the sinus tract and mucoid discharge contribute to the theory [11].
Surgical
intervention should be performed at an early stage, since the traction of the
cord on the mandibular bone during development may produce abnormalities such
as exostosis, micrognathia and torticollis [8]. Congenital midline cervical
cleft may also be associated with other malformations in the region, such as
thyroglossal duct cyst, ectopic bronchogenic cyst, cleft tongue, lower lip and
mandible or cleft sternum, hypoplasia or absence of the hyoid bone, and can
also be associated with cardiac anomalies [1].
DIAGNOSIS
Diagnosis is based on the clinical features of CMCC (Table 1) and
the main characteristic is a protruding lesion at the midline of the anterior
region of the neck, between the chin and the suprasternal notch (Figure 1).
The lesion is superficial and the superficial muscles of the neck remain intact
[3].
It is not a true cleft, because there exists
no skin gap. A mucosal surface bisects a skin tag and a short sinus (normally
about 1 cm in length). CMCC constitutes a variation of the cleft category
number 30 of the Tessier classification system of craniofacial defects
[2,12,13].
The lesion extends caudally as a longitudinal
cleft lined by a reddened and desquamative epithelium. Generally, a
mucus-secreting opening of the fistulous tract exists in the most caudal
portion of the cleft (Figure 1). The
seromucinous discharge resolves gradually the first months of infancy [2]. Over
time the cleft heals and a longitudinal scar is formed, developing the
formation of web, which causes contracture of the neck, limits neck mobility,
particularly extension, or torticollis [7,14].
Additionally, palpation reveals a
subcutaneous fibrous cord that extends to the entire cleft or part of it, from
the submental region to the suprasternal notch [3]. It is also important to
probe the sinus and visualize the blind end by means of radiography.
Histologic examination has revealed
stratified keratinized squamous epithelium lacking skin appendages such as
sweat or sebaceous glands. The dermis has alternating hypertrophy and atrophy
and there is a mild lymphocytic inflammatory infiltrate in the subcutaneous
tissues [15].
An associated
sinus tract is lined by a pseudostratified epithelium with seromucinous
salivary glands; however, there have been several reports of respiratory
epithelium and bronchial glands associated with the sinus tract (Figure 2) [16].
RADIOLOGICAL ASPECT
Ultrasonographic examination is significant
to exclude associated abnormalities of the thyroid gland and other related
anomalies. The regional site of the sinus tract is important in distinguishing
the CMCC from a thyroglossal fistula, since the tract extends caudally in CMCC
and cranially in the thyroglossal fistula [11].
Previous to the widespread use of ultrasound
and MRI, radiographs of the neck typically demonstrated bony spurring at the
mandible in advanced cases due to traction from the underlying fibrous cord.
Ultrasound of the neck shows a non-vascular, blind-ending sinus tract from the
skin surface. Mostly the thyroid gland is normal.
MRI defines the lesion, its course and
excludes other differential considerations such as thyroglossal duct cysts or
branchial cleft anomalies (Figure 3).
MRI usually shows skin thinning and a peripherally - enhancing, T1 hypointense
and T2 hyperintense linear tract without disruption of any bony or
cartilaginous structures or involvement of the thyroid gland (Figures 3-5) [17].
DIFFERENTIAL
DIAGNOSIS
Differential diagnosis includes thyroglossal
duct cysts or branchial cleft anomalies (Table
2). A thyroglossal duct cyst characteristically appears cystic, although
the midline T2 hyperintense lesion have faint peripheral enhancement (Figure 3). A thyroglossal duct cyst is
classically much higher in the neck, being more midline when related to the
hyoid and more lateral when located in the infrahyoid neck. Moreover, a
thyroglossal duct cyst does not usually have an associated sinus tract unless
it is superinfected. 2nd or 3rd branchial cleft cysts or pyriform sinus
fistulae are typically off midline in the lateral neck [17].
TREATMENT
CMCC is treated with surgical resection and
proper reconstruction to avoid scarring, to prevent cervical contractures and
to cure other associated congenital abnormalities.
A timely treatment of CMCC is essential to
prevent changes in the growth of the lower third of the face, mandibular
development and extension of the neck [18]. Reconstruction of the defect needs
surgical maneuvers other than primary closure. Primary closure would lead to an
unsightly scar and a vertical scar band that would cause restriction of neck
movements. Consequently, Z-plasty is one of the surgical procedures used to
close the defect. Single, double or multiple Z-plasty is the treatment of
choice for CMCC (Figure 6).
According to long-term functional results of congenital midline cervical
cleft, Z-plasty closure have been reported to be satisfactory with improvement
in vertical neck movement (Figure 7). Cosmetic results are more
variable. Horizontal scars often remain thin but widening of the oblique limbs
of the Z-plasty scar has been described [18].
Nevertheless more advanced cases having
hypoplasia of mandible, absent hyoid and/or thyroid cartilage or other
supporting structures of the neck warrant extensive teamwork between plastic
surgeon, head and neck surgeon, maxillofacial surgeon, which might need to be
supported by a psychologists, speech therapist, paediatrician and very
dedicated nursing care [2].
Therefore a correct earlier recognition of
the lesion and appropriate surgical management are indispensable to avoid
long-term complications [2].
CONCLUSION
CMCC is an uncommon congenital malformation
which diagnosis is made on clinical examination. The main characteristic is a
midline cutaneous protuberance over a linear vertical erythematous area. A
fibrous band located under this lesion usually extends to the manubrium and a
fistulous opening can be noticed at the caudal end. Surgical excision and
reconstruction of all pathologic tissues with multiple Z-plasty reconstruction
must be performed immediately in order to limit the risk of recurrence and
avoid limitation of extension of the neck (Figure 7).
1.
Smith RM Jr, Barth PC, Castillo J, Millman B, Wood WE
(2006) Congenital midline cervical cleft: A report of 3 cases. ENT J 85:
119-125.
2.
Jaiswal AA, Behera BK, Membally R, Mohanty MK (2017)
Congenital midline cervical cleft: A case report with review of literature. Int
J Head Neck Surg 8: 25-30.
3.
Rodriguez AHR, Guimaraes ASC, de Abreu e Souza AS,
Padrao TM, de Souza NFA (2017) Congenital midline cervical cleft. Rev Bras Cir
Plast 27: 644-647.
4.
Puscas L (2015) Midline cervical cleft: Review of an
uncommonentity. Int J Pediatr 10.
5.
Eastlack JP, Howard RM, Frieden IJ (2000) Congenital
midline cervical cleft: A case report and review of the English language
literature. Pediatr Dermatol 17: 118-122.
6.
Gardner ROE, Moss ALH (2005) Congenital cervical
midline cleft. Case report and review of literature. Br J Plast Surg 58:
399-403.
7.
Mlynarek A, Hagr A, Tewfik TL, Nguyen VH (2003)
Congenital midline cervical cleft: A case report and review of the literature.
Int J Pediatr Otorhinolaryngol 67: 1243-1244.
8.
McInnes CW, Benson AD, Verchere CG, Ludemann JP,
Arneja JS (2012) Management of congenital midline cervical cleft. J Craniofac
Surg 23: 36-38.
9.
Ombredanne L (1949) Precis Clinique et Operatoire de
Chirurgie Infantile. Masson, Paris, France, 5th Edn.
10.
Oostrom CAM, Vermeij-Keers C, Gilbert PM, Meulen van
der JC (1949) Median cleft of the lower lip and mandible: Case reports, a new
embryologic hypothesis and subdivision. Plast Reconstr Surg 97: 313-320.
11.
Genç A, Taneli C, Arslan O, Daglar Z, Mir E (2002)
Congenital midline cervical cleft: A rare embryopathogenic disorder. Eur J
Plast Surg 25: 29-31.
12.
Tessier P (1976) Anatomical classification of facial,
cranio-facial and latero-facial clefts. J Maxillofac Surg 4: 69-92.
13.
Saha S, Misra S, Saha VP, Mondal AR (2005) Midline
cervical cleft: A report of two cases. Indian J Otolaryngol Head Neck Surg 57:
78.
14.
Sinopidis X, Kourea HP, Panagidis A, Alexopoulos V,
Tzifas S, et al. (2012) Congenital midline cervical cleft: Diagnosis,
pathologic findings and early stage treatment. Case Rep Pediatr 2012: 951040.
15.
van der Staak FHJ, Pruszczynski, Severijnen RSVM, van
de Kaa CA, Festen C (1991) The midline cervical cleft. J Pediatr Surg 26:
1391-1393.
16.
Agag R, Sacks J, Silver L (2007) Congenital midline
cervical cleft. Cleft Palate Craniofac J 44: 98-101.
17.
Villanueva-Meyer J, Glastonbury C, Marcovici P (2015)
Congenital midline cervical cleft. J Radiol Case Rep 9: 7-11.
18.
Kakodkar K, Patel S, Maddalozzo J (2013) Congenital
midline cervical cleft. Otolaryngology 3: 132.
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