Congenital Head and Neck Masses

CONGENITAL HEAD AND NECK MASSES
DISUSUN OLEH :
Putri Linggar Batari
122810105
PEMBIMBING:
dr. Ismi Cahyadi Sp. THT-KL Subsp – Onk (K) FICS
KSM ILMU THT-KL

RSUD WALED-FK UNIVERSITAS SWADAYA GUNUNG JATI
2024
KEPANITERAAN KLINIK SMF ILMU THT-KL│RSUD WALED│FK UGJ│CIREBON│2024
DEFINITION
¡ Congenital neck masses, cysts, and other lesions encompass heterogeneous entities that have a
tremendous variety of clinical presentations.
¡ Congenital neck lesions are often categorized based on whether they are typically midline or lateral.
Too great a focus on this midline versus lateral dogma may prematurely narrow the differential
diagnosis.

THYROGLOSSAL DUCT CYST

DEFINITION
¡ Thyroglossal duct cyst (TGDC) is the most common congenital anomaly that presents as a pediatric
neck mass.
¡ TGDC occurs due to persistence of the thyroglossal duct, often with thyroid tissue elements, along the
path of thyroid gland’s descent during embryologic development.

DEFINITION
¡ The course of the thyroglossal duct is from the foramen cecum at
the base of tongue to the final thyroid gland location in the lower
aspect of the anterior part of the neck.
¡ During the fourth week of fetal development, epithelium located
in the floor of the pharynx that later forms the foramen cecum of
the tongue evaginates to form the thyroglossal duct.

DEFINITION
¡ The duct descends to the midline of the lower part of the neck,
where its distal end becomes bilobed and differentiates into the
thyroid gland. Thyroid-gland development is com- pleted at the
eighth week of gestation. Between the eighth and tenth weeks,
the duct normally involutes

EVALUATION
¡ TGDCs most commonly present as a midline cervical swelling,
often in close association with the hyoid bone
¡ More rarely, they present in the base of tongue (lingual TGDC),

superior to the sternum , or within the thyroid gland.
¡ Untreated TGDCs have a propensity for infection, and the

treatment of choice is surgical removal.
¡ Neck examination will often show a soft or hard lump in the

perihyoid area in the midline of the neck.

EVALUATION
In less than 2% of patients with suspected TGDC, the lump will turn out to be ectopic thyroid tissue
comprising some or all of the patient’s func- tional thyroid tissue. This diagnosis is suspected if the
preoperative ultrasound shows solid tissue rather than a cyst, especially if there is no ultrasonic
evidence of thyroid tissue in the expected location low in the neck. Laboratory studies may reveal
hypothyroidism. The management of ectopic thyroid tissue can be controversial.

EVALUATION
EVALUATION
¡ Ultrasound of the neck can help differentiate a TGDC from a dermoid cyst, lymph node, or ectopic
thyroid tissue.
¡ Ultrasonic evaluation is the preferred choice of imaging as it can be performed quickly, does not
involve radi- ation or require sedation.
¡ Computed tomography (CT) or magnetic resonance imaging (MRI) is typically not needed but may be
useful in recurrent or complicated cases.
¡ Some surgeons recommend thyroid functions tests (TFTs), but this is not necessary in an
asymptomatic patient
¡ The absence of thyroid tissue in the expected location should raise suspicion for an ectopic thyroid
gland rather than a TGDC.

MANAGEMENT
¡ Historically, TGDC was managed by simple cystectomy.
¡ Based on embryologic principles, advocated resection of the

middle third of the hyoid bone. This reduced recurrence rates to
20%.
¡ The complete Sistrunk procedure, currently the standard treat-
ment for a TGDC, involves removal of the cyst and remnant
thyroglossal duct tract in continuity with the middle third of the
hyoid bone and involved tongue musculature

MANAGEMENT
¡ If solid tissue is identified at the time of surGery, this may represent ectopic thyroid tissue. This may
have been suspected based on the results of the preoperative ultrasound
¡ A frozen section analysis showing normal thyroid tissue can confirm the diagnosis. The management
of this entity can be controversial.
¡ If apparently normal thyroid tissue is noted in the expected location low in the neck, the surgeon
should remove the ectopic tissue by proceeding with a Sistrunk procedure.
¡ If no normal thyroid tissue is seen in the expected location in the neck, continuing with removal of the
ectopic tissue may render the patient permanently hypothyroid requiring lifelong therapy. In this
situation, an alternative is to leave the ectopic tissue present and follow closely.
¡ Thyroid suppression therapy may be indicated to shrink the mass for mass effect compression or
cosmetic reasons.

MANAGEMENT
¡ Broad-spectrum antibiotics with or without incision and drainage are necessary for infected TGDCs. It
is preferable to delay definitive surgery until the infection is resolved.
¡ Complications with the Sistrunk procedure other than infection are typically minor and wound related.
More serious complications, however, may occur including violation of the airway, neurovascular
injury, or hematoma with airway obstruction.

BRACHIAL APPARATUS ANOMALIES

DEFINITION
¡ Branchial apparatus anomalies are the second most common congenital lesions that can present as a
mass in the pediatric neck, representing 30% of such masses.
¡ caused by failure of the clefts and pouches of the pharyngeal apparatus to obliterate during
embryogenesis.
¡ The pharyngeal arches (also known as branchial arches), of which four are dominant and two much
smaller, are evident by the fourth to fifth week of gestation.
¡ Each arch is composed of mesoderm along with a primary blood vessel, nerve, and cartilage bar, and
is separated from the next by an external cleft lined by ectoderm and an internal pouch lined by
endoderm.
¡ The only cleft that persists is the first, which becomes the external auditory canal.
¡ This pharyngeal apparatus gives rise to primary structures of the head and neck

DEFINITION

DEFINITION
¡ Branchial anomalies can present as solitary cysts, sinuses (tract either to pharynx or
skin), vestigial remnants, or complete pharyngocutaneous fistulas
¡ The definition of a fistula is an epithelial lined tract that connects areas of cutaneous and
mucosal epithelium, whereas a sinus is an epithelial lined pouch that opens to an area of
either cutaneous or mucosal epithelium.
¡ Branchial anomalies can be complicated by recurrent infection, abscess formation, and
drainage. When large, they can have a mass effect impacting the aerodigestive tract
with airway or swallowing difficulties.

FIRST BRANCHIAL APPARATUS ANOMALIES
¡ The first pharyngeal arch, with maxillary and mandibular processes, differentiates to
form many structures of the mid-face, mandible, middle ear, and muscles innervated by
the motor branch of the mandibular nerve (V3).
¡ The first cleft and pouch form much of the eustachian tube, middle ear and mastoid
cavity, and external auditory canal
¡ They can present as a cutaneous pit in the neck, parotid area, external auditory meatus,
or periauricular area or with swelling and infectious complications at any of these sites.

¡ First brachial cleft anomalies are often divided into two types based on the Work
histopathologic classification system
¡ A type I first branchial cleft anomaly is an ectoderm-derived duplication of the
membranous external auditory canal and travels lateral to the facial nerve.
¡ A type II anomaly is ectoderm- and mesoderm-derived and can have an intimate
association with and tract medial to the facial nerve. It often presents with swelling or
pits around the auricle or as far inferior as the angle of the mandible and submandibular
area, but always cephalad to the hyoid bone


FIRST BRANCHIAL APPARATUS ANOMALIES : Evaluation
¡ Neck examination will often show a hard or soft swelling or pit in the periauricular area, parotid area,
or upper neck.
¡ There may be infectious symptoms.
¡ Occasionally, involvement of the external auditory canal or tympanic membrane can be seen.
¡ While ultrasound can help identify an underlying cyst, CT or MRI pro- vide more anatomic detail and
can better define any parotid gland involvement, which allows for better preoperative planning and
assessment of facial nerve risk prior to surgical intervention.
¡ Laboratory studies are typically not useful.

FIRST BRANCHIAL APPARATUS ANOMALIES : Management
¡ The recommend treatment of first branchial cleft anomalies is
surgical excision
¡ This may involves superficial (rarely total) parotidectomy and
facial nerve dissection, more commonly with a type II lesion.
¡ Complications typically involve wound issues, recurrence, or
facial nerve weakness.
¡ The risk of recurrence can range from 3% for primary
resections to 20% for revision operations.
¡ Facial nerve weakness is rare and typically temporary as long as
the nerve is identified and preserved.

SECOND BRANCHIAL APPARATUS ANOMALIES
¡ The second pharyngeal arch differentiates to form part of the hyoid bone and the
muscles innervated by the facial nerve (CN VII).
¡ The second pouch forms the palatine tonsils. The second cleft normally is obliterated by
the seventh week of gestation.
¡ Second branchial anomalies account for 70 to 90% of all branchial anomalies.
¡ They can present as a solitary cyst but may have a cutaneous pit at the anterior border of
the sternocleidomastoid muscle (SCM) in the lower third of the neck where it is in contact
with the platysma.
¡ Solitary cysts present at an older age and are more likely to have a history of recurrent
infection.

SECOND BRANCHIAL APPARATUS ANOMALIES

SECOND BRANCHIAL APPARATUS ANOMALIES : Evaluation
¡ When evaluating a fistula, cervical ultrasound can help screen for an underlying cyst
or cartilage component.
¡ Ultrasound is also useful for differentiating a cyst from a soft tissue mass or lymph
node when the distinction is not clear on physical examination.
¡ When a cyst is evident on physical examination, CT or MRI may be more useful to
define the anatomy for surgical planning better.
¡ Laboratory studies are typically not useful. Complete fistulas are more common on
the right

SECOND BRANCHIAL APPARATUS ANOMALIES : Management
¡ The recommended treatment of second
branchial anomalies is surgical excision. Pits
are typically excised by an elliptical skin
incision in continuity with the underlying
tract.
¡ Tracts are followed from inferior to superior,
taking care to protect adjacent structures
such as the internal jugular vein, carotid
artery, and nerves

THIRD AND FOURTH BRANCHIAL APPARATUS ANOMALIES
¡ Third and Fourth branchial anomalies present similarly and are difficult to differentiate
from each other.
¡ The third arch gives rise to part of the internal carotid artery, hyoid bone, epiglottis,
thymus, and stylopharyngeus muscle controlled by the glossopharyngeal nerve (CN IX)
¡ The fourth arch gives rise to the arch of the aorta, cartilages including thyroid, cuneiform,
and part of the epiglottic cartilage and muscles controlled by the superior laryngeal nerve
(a branch of CN X)
¡ The presentation of these lesions is most often as recurrent neck abscesses (40%) and /
or suppurative thyroiditis (30 to 45%)

THIRD AND FOURTH BRANCHIAL APPARATUS ANOMALIES : Evaluation
¡ Neck examination will less commonly show a pit in the cervical skin. A cyst with or
without an internal opening in the pyriform sinus is the most common presentation.
¡ Evidence of previous incision and drainage of a neck abscess or tenderness due to
thyroiditis may be present.
¡ Barium swallow, direct laryngoscopy, and MRI are the most useful diagnostic studies.
¡ Thyroid ultrasound may be helpful in patients with recurrent thyroiditis.
¡ These lesions are more common on the left.

THIRD AND FOURTH BRANCHIAL APPARATUS ANOMALIES : Evaluation

THIRD AND FOURTH BRANCHIAL APPARATUS ANOMALIES : Management
¡ The definitive treatment for third and fourth branchial anomalies is also surgical removal.
¡ Direct laryngoscopy with particular attention to the pyriform sinus is important to identify the tract opening
¡ Pyriform sinus openings can be closed with techniques such as monopolar or chemical cautery or fibrin
sealants.
¡ Hemithyroidectomy may be necessary in patients with recurrent thyroiditis.
¡ Recurrence rates have been shown to depend on the method of treatment:
a. Incision and drainage (90%),

b. Endoscopic cauterization of the opening in the pyriform sinus (15%)
c. Open neck surgery with excision of the lesion and tract (15%), and
d. Open surgery with hemi-thyroidectomy (8 to 15%)

PREAURICULAR CYST
¡ Preauricular skin pits with associated sinus tract and cyst are common congenital
lesions.
¡ These lesions have a squamous cell lining. They are theorized to form along the
fusion points of the six auricular hillocks during external ear formation near the sixth
week of embryogenesis.

PREAURICULAR CYST : Evaluation
¡ Attention is given for signs of infection or
drainage
¡ Imaging is typically not needed
¡ If seen in conjunction with branchial anomalies,
hearing loss, externalear malformations, or
family history of hearing loss external ear
malformations, or family history of hearing loss,
consideration should be given for renal
ultrasound and further workup of possible
Branchio-oto-renal syndrome (BORS)

PREAURICULAR CYST : Management
¡ Asymptomatic pits can typically be observed.
¡ Drainage or a history of infection is an indication for surgical removal
¡ The entire pit, tract, and associated cyst, if present, should be removed to avoid
recurrence.

CERVICAL DERMOID CYST
¡ Dermoid cysts result from trapped epithelial elements (ectoderm and endoderm) along embryologic lines of
fusion.
¡ They often present in a midline or paramedian location in the neck
¡ More rarely, they can present laterally in the neck, a location more typical of branchial anomalies.
¡ Other head, face, or neck locations are possible including commonly the nose and the lateral brow region of the
orbit
¡ They enlarge over time due to accumulation of sebaceous material. The contents have a characteristic “cheese-
like” quality
¡ These present commonly as a soft or hard, midline, non tender lump anywhere from the sternal notch to the
submentum and floor of mouth, with intact overlying skin or mucosa.
¡ Cervical dermoid cysts represent 20% of head and neck dermoids. They are usually diagnosed before three years
of age.

CERVICAL DERMOID CYST : Evaluation
¡ Midline cervical dermoid cysts are typically superficial to
the trachea, between the strap mucles, and well
encapsulated. They can be subcutaneous or deep to the
investing cervical fascia.
¡ Cervical ultrasound can help demonstrate the extent and
depth of the lesion as well as the cystic versus solid
characteristics.
¡ CT or MRI usually is not needed but may be helpful for
large or atypical lesions.

CERVICAL DERMOID CYST : Management
¡ The recommended treatment for a dermoid cyst is excision. Midline cervical dermoid
cysts can usually be removed by excision through a horizontal incision in a skin
crease.
¡ Recurrence is rare if completely excised, and complications are typically minor and
wound-related.

TERATOMA
¡ Teratomas are germ cell tumors that contain all three germ layers including ectoderm, endoderm, and
mesoderm.
¡ Approximately 3% of pediatric teratomas present in the head or neck, most often in neonates.
¡ These tumors are often large, and approximately 20 to 50% of neonatal cervicofacial teratomas present
with airway obstruction, sometimes described as congenital high airway obstruction syndrome (CHAOS).

TERATOMA : Evaluation
¡ Prenatal ultrasound can potentially diagnose lesions early, and plans can be made for an ex utero
intrapartum treatment (EXIT) procedure when necessary to secure the airway by intubation or
tracheostomyt.
¡ Ultrasound characteristically demonstrates mixed solid and cystic components and may show evidence of
calcifications.
¡ Many cervical teratomas are not detected prenatally but rather are discovered on neonatal physical
examination.
¡ A large, anterolateral, firm, multi-nodular neck mass with cystic and solid areas is characteristic.
¡ Full examination with particular attention to breathing, swallowing, and vocal cord function is essential.
¡ Ultrasound, CT, or MRI can help characterize the extent of the lesion
¡ MRI can demonstrate soft tissue detail and vascularity of the tumor.

TERATOMA : Management
¡ Surgical removal is the treatment of choice. The
lesions can be large, and care should be taken to
preserve neurovascular structures
¡ The surgical approach is dictated by the specific
location and extent of the lesion.

THYMIC CYST
¡ Thymic cysts are rare and occur along the course of embryologic descent of the thymus gland.
¡ The most common presenting age is two to 13 years old.
¡ Developing from the third branchial pouch at the sixth week of gestation, the primitive thymus gland
descends as an extension of the thymopharyngeal duct from the neck to a final location in the superior
mediastinum.
¡ Approximately 50% of cervical thymic cysts have extension to the mediastinum.

THYMIC CYST : Evaluation
¡ The majority of thymic cysts are first noted as a midline or lateral swelling in the lower third of the
neck, sometimes with fluctuating size, a history of infection, or aerodigestive obstructive
¡ Imaging is important to establish the extent of the lesion. Ultrasound is useful for identifying cystic
versus solid tissue, but MRI or CT scan is better for defining any mediastinal extension for surgical
planning.
¡ Solid tissue on imaging may represent ectopic thymic tissue.
¡ Fine-needle aspiration (FNA) can be helpful to confirm suspected ectopic thymus tissue.

THYMIC CYST : Management
¡ The recommended treatment for thymic cysts is surgical removal.
¡ Thymic cysts are often found in close approximation to the carotid sheath, and their surgical removal
poses risk to the carotid artery, jugular vein, and vagus nerve.
¡ Ectopic thymic tissue is often asymptomatic and can be followed clinically without surgical removal.

MIDLINE CERVICAL CLEFT
¡ Midline cervical cleft (CMCC) is a rare congenital anomaly, with fewer than 100 reported.
¡ The leading cause is thought to be failure of midline fusion of the first or second branchial arches
during embryogenesis.
¡ The appearance is a midline skin defect with an erythematous, vertical line of variable thickness and
length anywhere from the mandible to the sternal notch, associated with a skin protuberance at the
superior end and a sinus tract at the inferior end

MIDLINE CERVICAL CLEFT : Evaluation
¡ Palpation will often show a firm,
subcutaneous fibrous cord along the length
of the lesion.
¡ As this is a fusion defect, the cord is a
product of a fibrous abnormality of the
median raphe of the strap muscles.
¡ The lesion is cutaneous and subcutaneous,
and imaging is typically not needed.

MIDLINE CERVICAL CLEFT : Management
¡ recommended treatment is early surgical removal
to avoid infection and reduce the restriction on
cervical extension.
¡ The amorphus underlying fibrous cord requires
excision from the sternum to the mentum.
¡ After excision, repair by Z-plasty (single or
multiple adjacent) is recommended, serving both
to reorient the closure in a relaxed skin tension
line horizontally and to lengthen the closure,
thereby relieving the restriction o

FIBROMATOSUS COLLI
¡ Fibromatosis colli is also known as sternocleidomastoid tumor
or pseudotumor of infancy.
¡ This anomaly typically presents in the neonate as a hard,
minimally mobile, cervical mass intimately associated with the
SCM, often in conjunction with torticollis of the involved
muscle.
¡ The incidence is 0.4% of live births
¡ the cause is presumed to be a fibrotic reaction of the SCM

either secondary to abnormal intrauterine fetal position- ing or
cervical trauma during the birth process

FIBROMATOSUS COLLI : Evaluation
¡ On physical examination there is a mass in the mid to lower third of the lateral aspect of the neck,
associated with the SCM
¡ The involved muscle is often shortened from the fibrosis, resulting in torticollis with the head turned to the
opposite side.
¡ Cervical ultrasound, when combined with history and physical examination, is often diagnostic. Ultrasound
typically shows a hyperechoic mass or diffuse SCM enlargement with mixed echogenity
¡ FNA Biopsy can be diagnostic and shows benign fibroblat and atrophic skeletal muscle

FIBROMATOSUS COLLI : Management
¡ Physical therapy and time result in resolution of the fibrotic mass and torticollis in 90% or more cases,
especially if therapy is initiated promptly at a young age.
¡ Rarely, persistent muscle contraction warrants surgical intervention such as tenotomy, muscle lengthening,
or division of the SCM.

CONGENITAL NEOPLASTIC LESIONS
¡ Congenital pediatric neoplastic neck lesions are relatively rare but may arise from a wide
array of epithelial, mesenchymal, neural, thyroid, salivary, and lymphoid tissues.
¡ Such lesions include a heterogeneous group of benign and malignant pathologies, the
individual incidence, evaluation, and management of which are diverse.
¡ Biopsy is often required to guide medical therapy (rhabdomyosarcoma and lymphoma).
¡ Surgical excision may be required to treat the patient with sarcomas other than
rhabdomyosarcoma and neoplasms of salivary or thyroid gland origin most effectively.

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CONGENITAL HEAD AND NECK MASSES

KSM ILMU THT-KL

KEPANITERAAN KLINIK SMF ILMU THT-KL│RSUD WALED│FK UGJ│CIREBON│2024

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¡ During the fourth week of fetal development, epithelium located

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¡ More rarely, they present in the base of tongue (lingual TGDC),

¡ Untreated TGDCs have a propensity for infection, and the

¡ Neck examination will often show a soft or hard lump in the

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¡ Based on embryologic principles, advocated resection of the

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¡ Recurrence rates have been shown to depend on the method of treatment:

a. Incision and drainage (90%),

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¡ The most common presenting age is two to 13 years old.

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¡ the cause is presumed to be a fibrotic reaction of the SCM

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