­Branchial cysts, sinuses and 

fistulae

Aetiology. Branchial cysts, sinuses and fistulae result from

maldevelopment of the branchial apparatus, most often
the second branchial arch, during embryonic develop-
ment. Familial occurrence has repeatedly been reported.

Pathology. The sinus tracts of branchial anomalies are

lined by stratified squamous epithelium, which may in
part be replaced by respiratory (ciliated columnar) epi-
thelium. There is often abundant subepithelial lymphoid
tissue. Thymic or thyroid tissue points to derivation from
the third or fourth branchial arch, respectively. The pres-
ence of smooth muscle, cartilage and seromucous glands

in branchial arch remnants may lead to confusion with a
bronchogenic cyst (see Cutaneous bronchogenic cysts).
Clinical features. External branchial sinuses and fistulae
are detectable as openings located on the lateral neck, at
the anterior border of the sternocleidomastoid muscle.
Sinuses end blindly in the deep neck tissue, while fis-
tulae have a continuous communication between skin
and mucosa and may drain into the tonsillar area of the
pharynx. Cysts present as painless, mobile swellings and
have neither a cutaneous nor a mucosal opening. The
external orifice of sinuses and fistulae may exude a
mucous secretion. Early secondary infection is frequent
and may cause significant morbidity. Because of their
obvious skin opening and associated drainage and infec-
tion, branchial sinuses and fistulae are usually diagnosed
much earlier than branchial cysts, most often in the first
few years of life [13].
Bilateral lesions are rare; preauricular pits may be an
associated finding. Branchial anomalies may form part of
complex hereditary conditions, such as BOR syndrome,
branchio‐oculo‐facial syndrome and others.
Diagnosis of branchial sinuses and fistulae is obvious
in light of the cutaneous opening in a typical location.
In contrast, branchial cysts are part of the extensive
differential diagnosis of lateral neck masses including
lymphadenitis, abscess, lipoma, cystic hygroma, hae-
mangioma, lymphangioma, lymphoma, ectopic thyroid
cyst, thyroglossal duct cyst and cervical thymic cyst [14].
Radiographic imaging may be indicated to establish the
diagnosis and assess the extension.
Treatment. Due to the lack of spontaneous regression of
branchial anomalies and common recurrent infections,
complete surgical removal under general anaesthesia
during the first year of life is the treatment of choice.
­Congenital midline cervical cleft
This rare congenital anomaly, most likely related to aber-
rant fusion of the first or second branchial arches, is
located in the anterior midline of the neck at any point
between the mandible and the sternum [15]. The charac-
teristic clinical presentation consists of a cephalic nipple‐
like projection (‘skin tag’) with the inferior margin being
formed by a short sinus of about 1 cm length and an
atrophic mucosal surface dividing the two. An underly-
ing fibrous cord may impair the movement of the head
and neck and cause webbing. The cleft is covered by
stratified squamous epithelium lacking skin append-
ages while the sinus tract is usually lined by pseu-
dostratified columnar epithelium and often contains
seromucinous salivary glands. The abnormality may be
isolated or associated with a broad spectrum of midline
defects, such as median cleft of the mandible, tongue
and lower lip. Complete excision of the anomaly with
the underlying fibrous tract within the first year of life is
critical to avoid scarring contracture and mandibular
deformities. The surgical defect is usually closed with
multiple Z‐plasties.
Chapter 9  Developmental Anomalies 105
­Thyroglossal duct cysts
Thyroglossal duct cysts develop as a result of mucus pro-
duction within an incompletely obliterated thyroglossal
duct [16]. Most often, these cysts lie close to the hyoid
bone in or near the midline of the neck, but they may be
located at any site along the pathway of the thyroid
SECTION 2: SKIN DISORDERS
OF NEONATES AND INFANTS
anlage. They are the commonest cause of midline neck
swellings in childhood and adolescence although a signifi-
cant minority of cysts are not diagnosed before adulthood.
Typically, a painless soft mass of 1–2 cm diameter moves
upwards on swallowing and on protrusion of the tongue.
Less often, there may be a discharging sinus occurring
spontaneously or after incomplete excision. Infection
occurs with increasing frequency with age. To avoid infec-
tious complications and malignant change, thyroglossal
duct cysts should be excised early in life by resection of
the mid‐portion of the hyoid bone and en bloc cystectomy
with a cuff of muscle around the duct to the base of the
tongue (Sistrunk’s operation) [17]. Postoperative recur-
rence rates are in the range of 3–4%. Prior to surgery, the
normal thyroid gland should be identified by appropriate
imaging. On ultrasound, the cysts themselves show an
unechoic, hypoechoic, pseudosolid or heterogeneous
pattern. CT, MRI and radioisotope thyroid scanning offer
more precise information about location, size and relation
to adjacent structures and together with fine‐needle
aspiration help to exclude differential diagnoses such
as ectopic thyroid tissue, lipoma, lymphadenopathy
and carcinoma. The ducts are frequently multiple and
branched. There are numerous cases reporting malig-
nancy arising in thyroglossal duct remnants with thyroid
papillary carcinoma being by far the most common type
of associated neoplasm.
­Cutaneous bronchogenic cysts
The precise aetiology of cutaneous bronchogenic cysts
is disputed. The more common cysts inside the thoracic
cage are believed to originate from accessory buds that
became sequestrated from the primitive tracheobron-
chial tree or primitive foregut. This concept also fits for
presternal cysts that may develop after the intervention
of fusing sternal bars, but it is unlikely for bronchogenic
cysts in ectopic locations such as the shoulder and scap-
ular regions. Transplantation via lymphatic or haematog-
enous routes, metaplasia and maldifferentiation of
epithelial components to ciliated epithelium are other
possibilities.
In most cases, the lesion becomes evident within the
first days of life as a swelling or as discharge on the lower
neck, the anterior upper chest near the suprasternal notch
or over the manubrium sterni. Chin, shoulder, scapular
region, back and abdomen are less common sites [18].
There is no connection to underlying structures. Males are
predominantly affected. Histological examination of
bronchogenic cysts typically reveals a lining of ciliated
and mucin‐producing pseudostratified columnar epithe-
lium of respiratory type. Excision is recommended to pre-
vent infection and malignant transformation.