Congenital Sinuses of The Neck and its Etiology

Congenital Neck Sinuses
prepared by Dr. Ali Raghad
Mosul / Iraq

1. Congenital Neck Sinuses Prepared by :Ali Raghad 2nd Year Student Iraqi Board for Medical Specialization Supervised by Consultant Dr. Marwan Faisal M.B.Ch.B.FICMS

2. Basic Definitions Cyst: is abnormal, fluid-filled sac that can develop in tissues in any part of the body. Sinus: is a blind tract lined by granulation tissue leading from epithelial surface down into tissues Fistula: is an abnormal communication between lumen of one viscus and lumen of another (internal fistula) or between lumen of hollow viscus to the exterior (external fistula) or between any two vessels

3. Embryology The branchial arches are mesodermal structures that go on to form muscle, cartilage and bone. The spaces between the arches on the outside of the embryo lined with ectoderm called branchial clefts. The branchial pouches are found on the endodermal side of the branchial apparatus and separates the branchial arches.  Branchial cleft anomalies will result in a congenital sinus with an opening on a skin surface Pharyngeal pouch anomalies (third or fourth) will result in a sinus with an opening on a mucosal surface, typically in the left piriform fossa

4. Embryology

5. First Branchial Cleft Sinuses First branchial cleft sinuses are rare and account for less than 10% of branchial cleft anomalies. The external opening in the neck varies in position but lies on a line between the tragus and the hyoid bone. The opening is often inconspicuous and appears as a skin-lined pit

6. First Branchial Cleft Sinuses The sinus (sometimes known as a collaural fistula) is often formed of cartilage, and lined with squamous epithelium. The original classification (Work Classification) divides them into two types according to the presence or absence of mesothelial elements within the wall. Type I lesions : are duplications of the membraneous external auditory canal and composed of ectoderm, course lateral to the facial nerve and end in a cul-de-sac on a bony plate near the mesotempanum

7. First Branchial Cleft Sinuses Type II lesions are both ectodermal and mesodermal in origin and contain cartilage and hair follicles. Two clinical signs described with type II lesions are a sinus opening in the neck , situated in a triangle limited by the external auditory canal above, the mental region anteriorly , and the hyoid bone inferiorly, and the occasional presence of an asymptomatic membranous attachment from the floor of the external canal to the umbo . These lesions pass medial to the facial nerve and usually present as masses inferior to the angle of the mandible

8. Type II first branchial cleft cyst with a discharging sinus in the submandibular area

9. Otoscopy showing a membranous attachment (web) extending from the floor of the external canal to the umbo

10. First Branchial Cleft Sinuses Presentation The opening is present at birth and may become more obvious by the discharge of epithelial or sebaceous debris. The sinus may become acutely infected and may progress to abscess formation. Being lined with skin, these lesions do not discharge mucus

11. First Branchial Cleft Sinuses Investigation MRI is preferable over CT in children to minimize exposure to ionizing radiation and provide excellent visualization of soft-tissue planes. CT may be preferred in some institutions because of cost, availability and speed of image acquisition. A radiopaque sinogram is not routinely indicated

12. First branchial cleft fistula measuring 1.1 cm that is directed towards the head and medial to the pinna of the ear. MRI scan T1 . A Coronal cut. B Sagittal cut. C Coronal cut. D Axial Cut

13. First Branchial Cleft Sinuses Treatment Surgical excision of these lesions is usually advocated if at all symptomatic or if one or more episodes of infection have already occurred. A parotidectomy -type incision is modified to include the lower opening of the sinus. Facial nerve exposure and protection is required in nearly every case of first branchial cleft sinus

14. Second Branchial Cleft Sinuses Second branchial cleft sinuses are the commonest of the branchial anomalies (up to 90% ). The second branchial cleft sinus presents as a congenital opening on the lower neck, anterior to the sternocleidomastoid muscle. Second branchial cleft cysts are thought to be congenital in origin even though they rarely present in childhood and are much more common in young adults. Metastatic SCC should be considered until proven otherwise in patients over 40 years

15. A - three years old girl with a small cutaneous opening at the anterior border of SCM muscle B- On swallowing, the opening elevated, forming a cutaneous depression similar to a dimple

16. Second Branchial Cleft Sinuses The tract of the second branchial cleft sinus is directed proximally and medially to pass between the internal and external carotid arteries. The proximal end may communicate with the pharynx through the palatine tonsil to form a true fistula in some cases, although most lesions are not patent through their whole length. The sinus nearly always leaks clear or mucoid fluid from the distal external opening. Second branchial arch sinuses may be associated with branchio - oto -renal syndrome, especially if bilateral.

17. Second Branchial Cleft Sinuses classification : • type I : deep to platysma , anterior to sternocleidomastoid • type II : abutting internal carotid artery and adherent to internal jugular vein (most common) • type III : extending between internal and external carotid arteries • type IV : abutting pharyngeal wall and potentially extending superiorly to skull base.

18. Investigation Neck ultrasonography can characterize the size of tract or associated sharply demarcated cyst, and renal tracts can be imaged to exclude horseshoe or duplex kidney A radiopaque sinogram is not routinely indicated. Cross-sectional imaging will usually show the close relations of a second branchial cyst and is particularly helpful for type III or IV presentations MRI is preferable to CT in children to minimize exposure to ionizing radiation and provide excellent detail of soft tissue planes.

19. Beak Sign in Second Branchial Cleft Cyst

20. Treatment Excision of second branchial cleft sinuses is advisable. Surgery can be performed at any age and aims to excise the tract completely when no infection is present. Care must be taken to avoid injury to the hypoglossal nerve and internal jugular vein. Complete excision of the sinus will prevent recurrence.

21. Branchial Cystic Carcinoma The evidence for the existence of branchial cystic or branchiogenic carcinoma is tenuous . Many patients with CUP may present with a cystic lateral neck mass . There is enough evidence to recommend that all patients over 35 years old with lateral cystic masses must be presumed to have cancer until proven otherwise, and should be entered into CUP investigation protocol even if the initial FNAC is not suggestive of metastatic SCC.

22. MCQ -1 Which of the following applies to branchial cysts? a - They usually present in the neonatal period. b - They present in the midline of the neck. c - Infection of the cyst leads to an increase in size facilitating surgical excision. d- They are found at the junction of the upper and middle third of the sternomastoid muscle. e -They contain clear fluid.

23. MCQ -2 Branchial cyst is best differentiated from cold abscess by a - Fluctuation . b - Transillumination . c –Contains cholesterol crystals. d- Contains sulfur granules. e - Contains blood.

24. Third and fourth branchial sinuses Third and fourth pharyngeal pouch sinuses are rare abnormalities, accounting for 1–2% of branchial lesions. They almost always occur on the left side. They tend to present in early childhood with associated infections or in neonates with airway obstruction. Various investigations have been proposed: barium swallow, radioiodine scan, ultrasonography and CT. However, MR imaging alone is suitable followed by rigid endoscopy under anesthesia to identify an opening in the pyriform sinus.

25. Third and fourth BCA tract course

26. Fourth branchial cleft fistula Esophagogram shows a thin line of barium ( arroheads ) that extends from the apex of pyriform sinus

27. Treatment Wide-field extirpation of the cyst, tract and ipsilateral thyroid lobe using a hybrid open and endoscopic approach to the pyriform sinus was the standard treatment. Modern management utilizes endoscopic cautery of the pyriform fossa sinus alone as first-line treatment.

28. Preauricular sinus Results from incomplete fusion of the auricular hillocks ( three from the first and three from the second branchial arch).

29. Preauricular sinus Bilateral preauricular sinuses may be present with hearing loss. Preauricular sinuses occur sporadically or may be inherited While a sinus found above the line of the tragus is usually an isolated preauricular sinus/cyst, a sinus found below the level of the tragus is more likely related to a first branchial cleft anomaly and checking the EAC for fistula is imperative. Preauricular sinuses may be associated with several syndromes, most notably branchio - oto -renal syndrome.

30. Preauricular Sinus Presentation A preauricular sinus is often asymptomatic with a solitary pit, most commonly just anterior to the ascending crus of the helix . Frequent discharge or abscess formation following preauricular lymphadenitis may occur Whilst infected, there may be an increase in size, tenderness, surrounding erythema and discharge on palpation

31. Preauricular Sinus Treatment : Acute infections are best treated with intravenous antibiotics and in severe cases needle aspiration with microbiology culture of the aspirate. SURGERY: is usually influenced by frequency and severity of infective episodes, chronicity of sinus discharge and development of unsightly overlying skin inflammation. Incision and drainage should be avoided in acute infections due to the risk of sinus disruption and seeding and less likely facial nerve injury

32. Preauricular Sinus The sinus is explored under general anaesthetia with a lacrimal probe which usually shows deep extension towards the roof of the ear canal for 10 mm or more. The punctum is excised with a fusiform skin paddle and excised in continuity with the entire tract, which is usually adjacent to the underlying cartilage; excising a portion of this reduces the risk of recurrence. Some will use methylene blue to guide dissection but others avoid this in case of spillage into the field, which makes dissection more awkward.

33. Nasal Dermoid Most common congenital nasal anomaly Nasal dermoids are epithelial-lined cavities or sinus tracts with variable numbers of skin appendages, including hair follicles, sebaceous glands, and exocrine glands.  A punctum may lie anywhere on the nasal dorsum and may discharge or even have hairs extruding, which is considered pathognomonic . The cyst will lie somewhere between the columella and the glabella . A tract may also extend superiorly and intracranially .

34. Presentation Clinical presentation may be simply a small punctum or isolated mass, often presenting at birth or soon after. There are some reported associations with other congenital anomalies such as hydrocephalus, aural atresia and cardiac abnormalities. Differential diagnosis include glioma , encephalocoele and nasal polyposis

35. Presentation Nasal dermoids do not compress or transilluminate . Dermoids can form anywhere along the nose from the glabella down to the nasal tip or columella ; the most common site is the lower third of the nasal bridge. Up to 45% of nasal dermoid cysts have an intracranial connection. On exam, hypertelorism may be present. They do not enlarge with crying or valsalva maneuver and demonstrate a negative Furstenberg test

36. Complications Complications of untreated nasal dermoid infection include abscess formation , cellulitis , and osteomyelitis . Patients with intracranial connection are also at risk for cerebrospinal fluid (CSF) leakage , brain abscesses , cavernous sinus thrombosis , and meningitis . Gradual expansion of nasal dermoid cysts can deform nasal bones or cartilage .

37. Hartley Classification

38. Imaging Imaging is essential to exclude or confirm intracranial extension and planning for surgery. CT scan imaging is useful for identifying the presence of a sinus tract, ruling out intracranial connection, and visualizing bony defects of the skull base Findings of a bifid anterior crista galli and a patent or enlarged foramen caecum suggest, but do not confirm, intracranial involvement

39. Imaging MRI is more sensitive and specific than CT and therefore, is preferred for visualizing soft tissues and diagnosing intracranial extension. Nasal dermoid cysts appear isointense on TI-weighted images and hyperintense on T2-weighted images.

40. Sagittal MRI of a nasal dermoid , evident as a region of signal hyperintensity in the anterior nasal septum as a hyperintense lesion

41. Surgery In general, nasal dermoid cysts and sinuses should be surgically removed at an early age to avoid complications. If intracranial extension is present, a neurosurgical evaluation is required and craniotomy is generally performed as part of the procedure. The nasal portion of the dermoid can be removed using a variety of incisions, including midline vertical, transverse, lateral rhinotomy , or midbrow .

42. Surgery The external rhinoplasty approach allows good surgical exposure and a superior cosmetic result. Cartilaginous grafts are sometimes needed for dorsal augmentation when normal nasal structures have been altered by the mass.

43. Congenital Midline Cervical Cleft/Cord Etiology is unclear but it is thought to arise due to failed midline fusion of the second and third branchial arches. CMCC may present at birth with a cleft extending from the mentum to the sternum. There may be no external defect seen but a characteristic ‘cord’ seen or palpated below the skin when the neck is extended. If a cleft is present, serous discharge may be evident and the upper end will have a pseudonipple appearance

44. Congenital midline cervical cord/cleft (CMCC) CT or MRI allows characterization of the location and depth of the tract and differentiation from other midline congenital lesions. If there is no skin breakdown and the patient is asymptomatic, a conservative approach may be adopted. Surgery is indicated for cosmetic reasons and prevention of cervical contractures. Elective surgical excision is advocated using stepladder horizontal incisions or Z- plasty closure to avoid contracture

45. Sinus Sternoclavicularis Sinus sternoclavicularis is usually present at birth with an asymptomatic sinus at or near the sternoclavicular joint, more often on the left side. Ultrasound allows characterization of the location and depth of the tract and confirmation of normal thyroid gland. If there is no skin breakdown and the patient is asymptomatic, a conservative approach may be adopted. Elective surgery is indicated for cosmetic reasons, usually involving excision of a blind-ending sinus which peters out adjacent to the sternoclavicular joint.

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