Branchial Cleft Sinuses and Cysts

Branchial Cleft Sinuses and Cysts

Mark Felton

Jugpal S. Arneja

Neil K. Chadha


  • Branchial arches are akin to ancient gill apparatus (FIG 1).

  • Humans have five branchial/pharyngeal arches, 1 to 4 and 6 (there is no 5th branchial arch), which form craniocaudally from week 4.

  • Membrane ectoderm externally and endoderm internally covers the arches.

  • Cleft externally separates each arch.

  • Pouch internally separates each arch.

  • Each arch forms an artery, cartilaginous structure, nerve and muscle.

  • Arches 1 and 3 mainly form the face, and arches 3, 4, and 6 form the neck, with 4 and 6 fusing.

  • Ectodermal clefts obliterate except for the 1st branchial cleft, which forms the external auditory canal with outer side of the tympanic membrane forming the medial limit.

  • Branchial pouches form various head and neck organs (Tables 1 and 2).

FIG 1 • Branchial arch and pouches.


  • Failure of branchial pouch or cleft to obliterate during embryonic development can lead to fistula, sinus, or cyst formation:

    • A cyst is an epithelial-lined fluid-filled sac.

    • A sinus is a blind-ended epithelial lined tract opening on to skin or mucosa.

    • A fistula is an epithelial-lined tract connecting two surfaces (skin/mucosa).

  • The resultant anomaly from failure of this process relates to the specific arch, pouch or cleft derivatives.

  • The main branchial anomalies associated with sinuses and fistulae are 1st and 2nd cleft anomalies and 3rd and 4th pouch anomalies.

  • Type 1 branchial anomalies are rare anomalies resulting in duplication of the external ear canal and are classified as Work’s type 1 or 2.

  • Branchial cleft cysts are regarded as 2nd branchial anomalies. Several theories exist as to their origin including3:

    • Lymph node inclusion theory—cystic transformation of lymph nodes

    • Branchial cleft remnant theory—remnant of branchial cleft/pouch

    • Thymopharyngeal duct theory—remnant of the connection between the thymus and 3rd pouch

    • Cervical sinus of His theory—cyst is formed by remains of the cervical sinus.


  • Branchial sinuses and fistulas may present as a discharging neck punctum +/- neck swelling.

  • Type 1 branchial anomaly is rare.

    • Often a late diagnosis

    • May present with a mass in parotid or submandibular region

    • Discharging neck punctum or discharging ear

  • Type 2 branchial anomalies are the most common branchial anomaly.

    • Often present at or just after birth

    • External opening in the skin (punctum) along anterior border sternocleidomastoid muscle +/- discharge

  • Type 3 and 4 brachial sinus

    • Neonates—lateral neck cyst/abscess +/- airway obstruction

    • Child/young adult—thyroiditis/recurrent neck abscess

    • Most commonly diagnosed in childhood (delayed diagnosis)

  • Branchial cysts

    • May present as a cystic neck swelling +/- infection/abscess

      Table 1 Branchial Arch and Pouch Derivatives

      Arch Derivatives

      Pouch Derivatives



      Cranial Nerve



      Part of terminal branches maxillary artery

      Meckel cartilage: malleus and incus, anterior malleolar ligament, mandible template, maxilla, zygomatic bone and squamous temporal bone, mandible


      Muscles of mastication, mylohyoid, tensor tympani, anterior belly digastric

      Tubo-tympanic recess, tympanic cavity, mastoid antrum, Eustachian tube


      Stapedial arteries

      Reichert cartilage: stapes, styloid process, stylohyoid ligament, lesser cornu, and superior body of hyoid


      Muscles of facial expression, stapedius, stylohyoid, posterior belly digastric



      Common carotid arteries, internal carotid arteries

      Greater cornu and inferior part of hyoid



      Inferior parathyroid glands and thymus


      Left forms part of aortic arch, right forms part right subclavian artery


      X—vagus, superior laryngeal

      Cricothyroid, pharynx constrictors

      Superior parathyroid glands and possibly the calcitonin-producing cells of thyroid


      Pulmonary arteries, ductus arteriosus


      X—vagus, recurrent laryngeal

      Intrinsic muscles of larynx

    • Peak age 3rd decade

    • Most are located anterior to the upper part of the sternocleidomastoid muscle

  • Branchio-oto-renal syndrome is an autosomal dominant syndrome with a prevalence of 1 in 40 000 people. It is caused by mutations in the EYA1, SIX1, and SIX5 genes.4

  • Children born with this typically have branchial anomalies, ear abnormalities (including pits, tags, atresia, hearing loss) and kidney abnormalities (including hypoplastic/absent kidneys). If suspected, these children require audiometry, an ultrasound of the renal tract, and genetic counseling.


  • Imaging varies depending on the branchial anomaly.

  • Cysts—ultrasound (USS) is obtained usually, but an MRI may be helpful when the diagnosis is not clear on USS.

  • Type 1—CT to image middle ear and MRI for soft tissues and course of sinus/fistula (FIG 2A).

  • Type 2—clinical diagnosis; usually no imaging required.

  • Types 3 and 4—barium swallow/and direct laryngoscopy to assess for sinus/fistula entrance at the pyriform fossa; USS +/- MRI to assess thyroid involvement and any cystic component (FIG 2B).

Table 2 Pathophysiology and Sinus/Fistula Course

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Feb 27, 2020 | Posted by in Pediatric plastic surgery | Comments Off on Branchial Cleft Sinuses and Cysts
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