David E. Tunkel and Jonathan A. Perkins
Head and neck masses commonly occur in young children, and the differential diagnosis for such masses is broad. The initial history and physical examination usually provides sufficient information to narrow the possible causes of a swelling in a child’s head or neck. This should direct the subsequent evaluation and initial therapy. While the majority of these head and neck masses are inflammatory in nature, congenital abnormalities and neoplasms can occur and often require surgical intervention for diagnosis and treatment. In one review of children with head and neck masses that were biopsied or excised, 55% had congenital lesions, 27% had inflammatory masses, and 14% had a benign or malignant neoplasm.1 A thorough evaluation of a child with a head and neck mass is necessary to prevent delay in diagnosing a malignancy and to allow appropriate medical or surgical treatment of persistent benign diseases.
AGE CONSIDERATIONS IN DIFFERENTIAL DIAGNOSIS
Neonates and young infants who present with neck masses at or close to the time of birth most likely have congenital abnormalities such as branchial cleft cysts, thyroglossal duct cysts, or vascular malformations (see Chapter 372). Infants can also develop infectious neck masses, including abscesses that usually occur from suppuration of lymph nodes. Neck abscesses in infants can occur throughout the neck (Fig. 373-1) and are usually caused by Staphylococcus aureus.2 These abscesses are treated with appropriate antibiotic therapy (with the increasing frequency of methicillin-resistant Staphylococcus aureus in mind) and with surgical drainage when necessary.3 A neck mass that appears in the first several weeks of life is fibromatosis coli, also called sternomastoid tumor of infancy, which presents with a firm lateral neck swelling and is often associated with a head turn or tilt (Fig. 373-2). Both parents and primary care physicians often have concerns of potential malignancy with this presentation. The diagnosis is a clinical one, supported by ultrasonographic findings of a solid mass within the sternomastoid muscle, and resolution is expected in almost all infants.4 The most common malignancies that present as neck masses in infants are blue-cell tumors, which include neuroblastoma, rhabdomyosarcoma, and lymphoma (see discussion of malignant neoplasms below).
Neck masses in preschool children usually are inflammatory in nature, and transient lymphadenopathy can occur commonly in association with other infectious symptoms. Congenital neck masses may first present at this age, when a quiescent congenital cyst enlarges as a result of infection. Nontuberculous mycobacterial adenitis occurs primarily in this age group, usually presenting as a mass in the submandibular, parotid, or upper neck areas that eventually causes skin discoloration or fistula formation.5 Surgery is the primary treatment for this localized infection.
Figure 373-1. Suppurative adenitis/neck abscess in an 8-month-old child.
Figure 373-2. Firm swelling within the sterno-mastoid muscle in a 4-week-old child with sterno-mastoid tumor of infancy (fibromatosis coli).
Older children and adolescents with neck masses usually have enlarged cervical lymph nodes as a reactive process that is secondary to viral or bacterial infection. However, children in this age group can have malignant tumors such as lymphoma or carcinomas of the thyroid or salivary glands, and consultation for possible tissue diagnosis should be sought in patients with other associated symptoms, a mass that is enlarging, and persistent swelling.6 African American teenagers have an increased risk of nasopharyngeal carcinoma, a disease that often presents with metastatic disease in the neck before the nasopharyngeal primary is detected.7
DIAGNOSTIC EVALUATION
The initial focused history should assess the lesion’s time of onset and duration, the rate of growth, and the presence of associated systemic symptoms such as fever, weight loss, and cough. Information about environmental exposures, including exposure to cats, HIV, tuberculosis, or radiation, should be obtained.
The examination should focus on the location, size, and consistency of the mass(es), and whether the mass seems tender. Discoloration, fixation, or necrosis of the overlying skin should be noted. Supraclavicular and posterior triangle masses in children have a higher incidence of malignancy.8
Laboratory studies should be directed based on the findings of the history and examination. A complete blood count and C-reactive protein may be helpful in assessing acute inflammatory processes in the neck. Tuberculin skin testing or Quantiferon TB blood testing should be used when mycobacterial infection is suspected. Specific serological tests, such as Epstein-Barr virus antibody titers or Bartonella henselae (“cat-scratch” disease) titers, may be helpful when these diseases are suspected clinically.
Imaging studies are useful in confirming diagnoses and detailing anatomy for subsequent surgical intervention. Ultrasonography is most helpful for confirming the diagnosis of sterno-mastoid tumor of infancy and for assessing the presence of normal thyroid gland in children with suspected thyroglossal duct cysts.9 Computerized tomography, almost always done with intravenous contrast administration, is useful for delineating the anatomy of most pediatric neck masses and for diagnosing neck abscesses (eFig. 373.1 ). Magnetic resonance imaging (MRI), with or without magnetic resonance angiography, is the preferred method for diagnosing suspected vascular lesions or masses that may involve the central nervous system (eFig. 373.2 ). MRI also allows soft-tissue imaging without ionizing radiation, an advantage that has become more significant recently with published concerns about the potential oncogenic effects of radiographic imaging.10
INDICATIONS FOR SURGICAL INTERVENTION
Surgery for neck masses in children can be divided into incisional or excisional biopsy for diagnosis, excision of masses for treatment, and drainage or debridement of infectious masses/abscesses. While many neck masses in children are transient and will respond to medical therapy, persistent masses without obvious diagnosis should be evaluated for biopsy. Fine-needle aspiration biopsy can provide specimens for culture and cytopathology, but the frequency of nonepithelial neoplasms in children often requires open surgical biopsy for definitive diagnosis.11
Large neck masses, such as lymphatic malformations, in young children may be unsightly and may cause compressive symptoms, including airway obstruction (Fig. 373-3). These masses may require surgical intervention to avoid airway compromise. Congenital neck cysts and sinuses are usually excised to avoid the risk of subsequent infection or enlargement.
Surgical drainage of pediatric neck abscesses should be considered when the abscesses are large, the child is toxic, or when response to antibiotic therapy is not prompt. Small abscesses or areas of cellulitis may respond to medical therapy. Drainage also allows culture of the abscess material, which is particularly useful when resistant organisms are suspected. In children with chronic lymphadenitis, as seen with nontuberculous mycobacterial infection, debridement and curettage will provide tissue for pathological diagnosis and cultures and may cure many cases.
Figure 373-3. Large lymphatic malformation of the right neck in a 7-month-old child.
CONGENITAL NECK MASSES
Congenital anomalies of the neck consist of common and uncommon lesions that are discussed further in Chapter 372. They are best divided into those that are in the midline neck and those that present in the lateral neck (Table 372-2). The most common midline neck mass is the thyroglossal duct cyst.
Other midline neck masses and anomalies include dermoid cysts and midline cervical clefts. Lymphadenopathy can be found in the midline neck of young children, particularly in the submental area; in older children, thyroid neoplasms can occur in the midline.
Congenital anomalies of the lateral neck are usually branchial cysts and sinuses, although vascular malformations can occur throughout the neck and can be present at birth. Branchial cleft anomalies are discussed in Chapter 372.
INFLAMMATORY NECK MASSES
Enlarged lymph nodes in the neck are common in healthy young children, with palpable cervical adenopathy seen in up to 45%.12 Most of these nodes are reactive and transient, in response to viral or bacterial upper respiratory or other infection. Persistent adenopathy warrants additional diagnostic efforts to look for both systemic and local causes and, most importantly, to rule out malignancy. Acute bacterial adenitis is seen in young children, usually with abscess formation that is suspected clinically and confirmed by computed tomography or needle aspiration. Systemic viral illness can cause impressive cervical adenopathy in children, most notably with Epstein-Barr virus (EBV) mononucleosis. EBV infection can cause upper airway obstruction in young children from acute adenotonsillar enlargement.13 Diagnosis is confirmed with serological testing, and treatment is largely supportive.
Children can present with neck masses from more chronic infectious conditions. Children with (HIV) infection usually have cervical adenopathy. Parotid masses, from recurrent parotitis or from lymphoepithelial cyst formation, are noted in many children with HIV disease.14 Sclerotherapy has been used to reduce the size of symptomatic or unsightly cysts.15
Nontuberculous mycobacterial cervical adenitis has been seen more frequently in healthy children over the past several decades. This illness occurs primarily in immunocompetent young children, with the peak incidence appearing between 2 and 3 years of age.16Mycobacterium avium complex is the etiologic organism in most cases (see Chapter 270). This illness presents with a slowly enlarging unilateral mass or group of nodes, most commonly involving the submandibular/facial nodes or the preauricular/parotid area. Over time, the skin may become indurated or necrotic (Fig. 373-4). Diagnosis is largely based on clinical suspicion. A positive tuberculin skin test may confirm clinical suspicion, and diagnosis is confirmed by characteristic histopathology and positive cultures from needle-aspiration material or surgical specimens. The treatment remains surgical, as complete excision of the involved lymph nodes and skin is usually curative. The role for antibiotic treatment, with combinations of drugs including clarithromycin or azithromycin and rifabutin, is still under investigation, but surgical excision seems to provide more reliable cure rates.17 Antibiotic therapy may be effective for children with persistent disease after incomplete excision.18
Figure 373-4. Fistula formation from nontuberculous mycobacterial adenitis in a 2-year-old.
VASCULAR ANOMALIES
Our understanding of the behavior of vascular anomalies has increased over the past several decades.19-21 These lesions are divided into two groups: vascular tumors, which are lesions that demonstrate new cell growth, and vascular malformations, which are lesions that have disorganized vasculature without cellular proliferation. For a detailed discussion of the classification and management of vascular anomalies, see Chapter 364 and Table 364-1.22
VASCULAR TUMORS
Infantile hemangioma (IH) is the most common vascular tumor.23 IHs are not present at birth but appear during infancy and grow rapidly for several months. The biology and management of IH is detailed in Chapter 364. IHs are focal or segmental and can involve superficial skin or deep tissues.24 The appearance of IH varies with size and the relation to overlying skin, as superficial lesions are red and deep lesions are blue (Fig. 373-5). Treatment is based on accurate diagnosis, steroid responsiveness, and the presence of potential life- or function-threatening complications.
Other vascular tumors such as tufted angioma or kaposiform hemangioendothelioma are much less common and can be associated with the consumptive coagulopathy known as the Kasabach-Merritt phenomenon.25-27 Congenital hemangiomas are present at birth and are histologically identical to IH but lack GLUT1.28,29 Other conditions associated with vascular tumors include neonatal hemangiomatosis, where multiple cutaneous IHs are associated with deep visceral lesions. PHACE (posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and other cardiac defects, and eye abnormalities) syndrome is associated with large IHs.30,31
VASCULAR MALFORMATIONS
The most common vascular malformations that affect the head and neck in children are lymphatic malformations (LMs) (Fig. 373-3).32 LMs, consisting of abnormal lymphatic channels, can present at birth or later in childhood when they enlarge in response to infection. Treatment of LMs is determined by location, radiographic characteristics, and the amount of functional compromise caused by the mass. Macrocystic malformations (cystic hygromas) are treated with surgical excision or sclerotherapy.33 Microcystic malformations are treated primarily with surgery. LMs in the upper neck may cause tongue and mandibular enlargement.34 Immune system dysfunction may be present in some children with LM.35
Venous malformations consist of tangled abnormal blood vessels filled with slow moving blood. These lesions are frequently present in muscle tissue (eFig. 373.3 ), and they can involve skin.36 Treatment consists of sclero-therapy or surgical resection. Arteriovenous malformations are high-flow vascular malformations that can present as enlarging masses throughout the head and neck, with the auricle being a frequent site of such lesions.37,38 These generally require complete surgical excision for resolution. Attempts to eradicate these lesions with embolization generally fail and result in a lesion of increased size.
Figure 373-5. Large hemangioma with both cutaneous and deep parotid/neck involvement.
HEAD AND NECK NEOPLASMS IN CHILDREN
While neoplasms of the head and neck are rare, several types of benign and malignant neoplasms are unique to the skull base and neck and require a variety of treatments (eTable 373.1 ). Many of these neoplasms are discussed more fully in other areas of this textbook.
MALIGNANT NEOPLASMS
The primary tumor site of nasopharyngeal carcinoma is in the nasopharynx, but cervical metastasis at the time of presentation is common.39 The undifferentiated form of this tumor that is most common in children is associated with Epstein-Barr virus exposure. Nasal obstruction and middle ear effusion from nasopharyngeal mass effect are frequent with nasopharyngeal carcinoma, as is the presence of a solitary solid mass in the posterior neck. Treatment involves primary radiation therapy and adjuvant chemotherapy, with surgical therapy only rarely considered.
Rhabdomyosarcoma can occur in any head and neck location, frequently involving parameningeal areas (see Chapter 455).40 Rhabdomyosarcoma frequently causes significant skull base destruction from asymptomatic or rapid tumor growth before eventual diagnosis (eFig. 373.4 ). Treatment generally consists of multimodality therapy with radiation and chemotherapy. Surgical intervention is considered for initial diagnosis. Several series demonstrate that after initial treatment, resection of any residual tumor is beneficial if complete resection is achieved. Localized rhabdomyosarcoma, such as those seen in the orbit, has a favorable prognosis, while parameningeal tumor sites are difficult to completely eradicate. Ewing sarcoma can occur in or around any bone of the skull base and facial skeleton, and it is commonly seen in the mandible (see Chapter 454). Esthesioneuroblastoma is an uncommon malignant tumor that has been thought to arise from olfactory epithelium but can occur anywhere in the superior nasal cavity.41These tumors cause nasal obstruction and facial deformation and are usually treated with aggressive craniofacial resection followed by radiation therapy.
Neuroblastoma is the most common malignant neoplasm in infants, and up to 9% present with a primary head and neck lesion (see Chapter 457).54 Children with head and neck neuroblastoma can present with a neck mass, compressive airway symptoms, or even a Horner syndrome from cervical sympathetic trunk involvement. While surgical resection is favored for an isolated lesion, combined modality therapy is used for advanced disease.
Lymphomas, both Hodgkin’s and nonHodgkin’s types, can present at head and neck sites in children (see Chapters 451 and 452). Persistent enlargement of lymph nodes, particularly when systemic signs or symptoms suggestive of malignancy are present, should warrant open biopsy to exclude lymphoma.
Ten percent of thyroid cancer occurs in patients under 21 years old (see Chapter 530). While well-differentiated thyroid carcinomas are most common in young patients, cervical metastasis at the time of presentation is unfortunately also common in children.43 Overall survival is excellent despite aggressive disease, with surgical treatment followed by possible radioactive iodine therapy and careful long-term surveillance. Malignant salivary tumors can occur in children, most commonly mucoepidermoid carcinoma. These tumors are treated with surgical excision and facial nerve preservation, with postoperative radiotherapy decisions based on tumor type, histologic grade, and disease stage.44
BENIGN NEOPLASMS
Juvenile nasopharyngeal angiofibroma is an unusual, histologically benign but locally aggressive tumor that arises in the nasopharynx in older male children (see Chapter 370 and eFig. 370.4 ). This tumor causes nasal obstruction and epistaxis. They can be localized to the nasopharynx, or they can spread throughout the skull base and into the middle cranial fossa.
A variety of benign tumors present as head and neck masses in children. Children with neurofibromatosis can have large plexiform neurofibromas that cause airway symptoms and other difficulties from mass effect (eFig. 373.5 ). Benign salivary tumors, most commonly pleomorphic adenoma, can arise from any of the major or even minor salivary glands in older children. These tumors are treated with complete surgical resection.