differential diagnosis of oral and maxillofacial lesions

Dr. Ahmed M. Adawy Professor Emeritus, Dep. Oral & Maxillofacial Surg.

Former Dean, Faculty of Dental MedicineAl-Azhar University

A wide variety of lesions from the soft tissues; mucosaand submucosal structures, or hard tissues; bone andodontogenic structures may arise in the orofacial region.Diagnosing such lesions is necessary for the propermanagement of patients. Clinical diagnosis is thecognitive process of applying logic and knowledge, in aseries of step-by-step decisions, to create a list ofpossible diagnoses. A thorough history and a completeoral examination are required. Radiographicexamination, laboratory investigation, and, if indicated,surgical procedure to obtain a biopsy specimen forpathologic examination are also helpful

Oral lesions usually manifest as one of the following: (1)

change in colour; (2) swelling; (3) ulcers; (4) vesiculo-bullous

or (5) surface textural changes [1,2]. The word swelling denotes

any enlargement or protuberance over the body surface [3] . The

swellings may be classified as a sessile or pedunculated based

on the type of junction of the lesion with underlying tissue.

Anatomically, the swellings may also be classified as central

and peripheral lesions. The term exophytic lesions represent

any pathological growth that projects above the normal

contours of the oral surface epithelium [4]. Ulcerations, are loss

of epithelium. Whereas, vesiculo-bullous indicate loculated

fluid in or under the mucosa

"Chief Complaint." is a poor name for what we want the

patient to tell us. To some patients it is not a "complaint",

but to most, they come with a "problem". The primary

task is to seek out and understand the patient's problem. To

do this you must, first, listen carefully to what the patient

says. Second, analyze and interpret the problem. Most of

our patients, however, did not seek medical advice unless

they have pain and/or swellings. Further, many of the

orofacial lesions are completely asymptomatic and are

discovered accidentally during regular chick-up or

periodic radiographic examination

The patient should be questioned for the following:

1. How long has the lesion been present?. The duration of

the lesion may provide valuable clues to its nature. For

instance, a lesion that has been present for several years

may be congenital.

2. Has the lesion changed in size?. If so, at what rate and

to what magnitude?. A rapidly growing lesion is more

likely to be aggressive, whereas a slow-growing lesion

may indicates a more benign process

3. Has the lesion changed in character ?. For example, if a

lesion presented as an ulcer, but the patient says that it

began as a vesicle, a more thorough search for other signs

or symptoms of a vesiculo-bullous or viral disease may be

indicated.

4.What symptoms are associated with the lesion? (e.g.,

pain, abnormal sensations, anesthesia, a feeling of

swelling, bad taste or smell, dysphagia, swelling or

tenderness of adjacent lymph nodes)

If painful, what is the character of the pain?. What

exacerbates and what diminishes the pain?. Pain is most

often associated with lesions that contain an inflammatory

component. Cancer, although referred as a painful lesion,

often is not. Numbness in the distribution of one of the

sensory nerves may indicates an inflammatory or

malignant process. Dysphagia indicates that the muscles

of deglutition are involved

Swelling may be one of the common symptoms associated

with oral lesions, which indicates nothing more than

expansile process that can result from a variety causes.

Slow-growing masses (duration of months to years) are

usually benign. Whereas, rapidly growing masses ( hrs to

days) are usually inflammatory. In general, tender lymph

nodes indicate an inflammation

5. Are there any associated constitutional symptoms

(e.g. fever, nausea, anorexia)? For example, systemic viral

illnesses e.g., measles [5] can cause oral manifestations

along with the systemic illness. Interesting to note that

lymphoma and leukemia are usually accompanied with

low grade fever [6]

6. Is there any historic reason for the lesion (e.g., trauma

to the area, a recent toothache)?. Frequently, lesions in and

around the oral cavity are caused by habits, hard or hot

foods, and recent trauma. Ill-fitting prosthetic device,

cheek biting, sharp teeth, and other habits are common

causes of oral lesions. Additionally, the dentition should

always examined very carefully when a lesion is found,

because many of such lesions have some relationship to

the teeth

You have to think of your patient demographically, as part

of an age, sex, racial and occupational group, while you

consider their problem. Many diseases and conditions are

found in specific age, sex, race and occupational clusters.

For example, oral squamous cell carcinomas are more

common in males aged between 51 to 70 years, mainly

due to smoking habit. The most frequent sites are lower

lip vermilion, tongue, and gingiva/alveolar ridge. There

was a strong association between outdoor occupation,

mainly farmers, and white skin color with lip squamous

cell carcinoma [7]

An accurate health history, and, if needed, consultationwith medical specialists are mandatory for two basicreasons: The first reason is that a patients with certainmedical conditions, such as congenital heart defects,coagulopathies, and hypertension, may require specialprecautions when any surgical treatment is required. Thesecond reason is that the lesion under investigation may bean oral manifestation of a systemic disease. For instance,multiple lytic lesions and loss of lamina dura bone suggestthe possibility of hyperparathyroidism [8]. A patient withmultiple radiolucencies of the jaws or other bones mayalso have multiple myeloma [9]

It is very helpful to draw the lesion in the patient’s chart [10].

This allows follow-up the course of the lesion over time and

determines whether it is resolving or changing in nature

Lesions may arise from any tissue within the oral cavity,

including mucosal epithelium, submucosal connective

tissue, muscle, tendon, nerve, bone, blood vessels, and

salivary glands. The exact anatomic location of the lesion

should aid in this determination. For example, if a mass is

present on the dorsum of the tongue, an epithelial,

connective tissue, or muscle origin for the mass should be

considered. Similarly, a swelling on the floor of the

mouth, salivary gland etiology has to be included in

differential diagnosis

The lesion should be described as one of the several types of medical terminology [11]:Macule: circumscribed area of color change without elevation

Nodule: large palpable mass, elevated above the epithelial surface

Papule: small palpable mass, elevated above the epithelial surface

Ulcer: loss of epithelium

Erosion: superficial ulcer

Bulla: loculated fluid in or under the epithelium of skin or mucosa

Vesicle: small loculation of fluid in or under the epithelium

Pustule: cloudy or white vesicle, the color of which results from the presence of pus

The clinical characters such as consistency of the lesion(soft/hard), color and pigmentation of the lesion, shape ofthe swelling, base of the growth, location of the lesion(anterior/posterior jaw; labial/buccal mucosa) areimportant parameters in decision making. The obtainedinformation should be analyzed step by step for successfuldiagnosis of the lesion.

Site

Size

Shape

Shade

Surface

Certain locations correspond to certain diseases. Some

lesions occur in certain locations but don't occur in others.

For example, the peripheral ossifying fibroma is seen only

on the gingiva because it is of periodontal ligament origin.

Thus, a lesion located on the lip could not be a peripheral

ossifying fibroma. Meanwhile, lesions of salivary gland

etiology should be excluded form gingival swilling,

simply because salivary glands are not present their.

Another reason location is important, is that certain lesions

occur more frequently in some areas than others. For

example, dentigerous cysts, and ameloblastomas are

commonly seen in the angle and ramus of the mandible

The presence multiple lesions is an important

diagnostic sign. When multiple areas of ulceration are

found within the oral cavity, the possibility of a vesiculo-

bullous disease is suggested. It is unusual to find multiple

areas of carcinoma in the mouth. Likewise, multiple

osteolytic lesions should raise the possibility of multiple

myeloma, metastatic malignancy, and metabolic

abnormality (i.e., hyperparathyroidism)

Accurate recordings of these two basic physical

characteristics should be made for future reference.

Accurate measurements allow to follow the changes in

the size of the lesion. Rapidly growing lesions with a

history of resolution and remission are usually

inflammatory ones. It is not typical for any true

neoplasm to remit or regress, although some will have

periods of biological inactivity. Measurement of the

lesion is also used in the T staging of oral squamous

cell carcinoma and salivary gland malignancies

The color or colors are an important consideration. A

bluish swelling that blanches by pressure may indicate a

vascular lesion, whereas a bluish lesion that does not

blanch may indicate a mucus-containing lesion. A

pigmented lesion of the oral mucosa may carry more

importance than a lesion of normal color. An erythematous

lesion may be more ominous than a white lesion. Some

lesions may have more than one color, and this should be

noted in detail. Frequently, inflammation is superimposed

on areas of the lesion because of mechanical trauma or

ulceration, which gives a varied picture from one time to

the next

Normal mucosal color in elevated lesions indicates the

pathology is submucosal in origin. Most commonly,

normal color lesions may be due to one of several forms of

underlying pathosis, e.g. hyperplasia, neoplasia, fluid

accumulation, or cyst formation

In general, the white color of a lesion is due to 1) a thickening of

the epithelium (which may be the result of hyperkeratosis,

acanthosis, or edema of the epithelial cells), 2) a whitish

pseudomembane composed of surface debris or fungal colonies

covering the epithelium, or 3) decreased vascularity or various

deposits affecting the underlying connective tissue [12]

The red color of a lesion is usually indicative of :

1) an inflammatory lesion of variable etiology (e.g. reactive,

allergic, or infectious) accompanied by hyperemia,

2) an atrophy of the epithelium allowing easier visualization of

the vascular component of the underlying connective tissue, or

3) a lesion featuring proliferation of blood vessels [12]

In most instances, blue/purple discoloration of oral mucosa is

produced by blood-containing vascular lesions, or mucus-

containing salivary gland lesions. In contrast, a brown/gray/black

discoloration usually ensues from accumulation of either

exogenous stain or melanin [12]

The surface of the lesion may be smooth lobulated, or

irregular. If ulceration is present, the characteristics of the

ulcer base should be recorded. Ulcer beds can be smooth;

full of granulation tissue: covered with a slough,

membrane, or scab; or fungating, such as is seen with

some malignancies

Schematic view of surface and base characteristics

of exophytic lesions [13]

Nodular lesion with

smooth surface

Dome-shaped lesion

With smooth surface

Papillary growth

Verrucous lesions

Surface

A sessile lesion with ulcerated

smooth surface

Pedunculated lesion with

granular surface

The sharpness of the boundaries of the lesion is an

important sign. If a mass is present, is it fixed to

surrounding deeper tissues or is it freely movable?. The

determination of the boundaries will aid in establishing

whether the mass is fixed to bone, arising from the bone

and extending into soft tissues, or of an infiltrating nature.

The same applies to an ulceration; however, a description

of the boundaries should include a physical description of

the margins. The margin of an ulcer may be flat, rolled,

raised, or everted

The consistency of lesions is described as soft, as in the

case of a lipoma; firm, which is the consistency of a

fibroma; or hard, as in the case of an osteoma or tori.

Indurated simply means firm or hard

Lipoma Fibroma Osteoma

Fluctuation is the term given to a wavelike motion felt on

palpating a mass or cavity with nonrigid walls, which

contains fluid. This is a valuable physical sign, because it

usually indicates fluid within the mass. It can be elicited

by palpating with two or more fingers in a rhythmic

fashion, such that as one finger exerts pressure, the other

finger feels the impulse transmitted through the fluid-filled

cavity

Palpation of a mass may reveal a pulsatile quality, which

indicates a large vascular component. This is especially

important in bony lesions. A thrill is the name given to the

palpable vibration accompanying a vascular murmur or

pulsation. If a thrill is palpable, auscultation with a

stethoscope may reveal a bruit, or audible murmur.

Lesions with palpable thrills or audible bruits should be

referred to a specialist for treatment, because life-

threatening hemorrhage can arise when biopsy is

attempted

Inspection and palpation of the areas around the lesion,

including the regional lymph nodes, is mandatory. The

presence of neck swellings is not an uncommon finding,

especially in patients with oral infections or malignancies.

Lymphatic drainage from oral cavity sites is mainly to

submental and submandibular lymph nodes, although

other regional lymph nodes may be involved.

Lymphadenopathy secondary to infection is generally

characterized by both mobile and tender nodes. Patients

with oral cancer typically present with non-tender node

enlargement, with firm or hard lymph nodes on palpation

and fixation [14]

Anatomic location of cervico-facial lymph nodes

Radiographs are useful as diagnostic adjuncts to the

clinical examination and history of lesions within or

adjacent to bone. Compared to the adjacent bone, the

radiodensity of the lesion could be uniformly radiolucent,

radiolucent with patchy opacities within (mixed) and

radiopaque [15]. Radiolucency is a result of resorption of

mineralized tissue or decrease in thickness where as

radiopacity is due to an increase in mineralization,

increase in thickness, superimposition on some other

structures or a result of calcification in soft tissues

Radiolucent

Mixed radiolucent/ radiopaque

Radiopaque

Interpretation of radiographs has been made on a clinical

basis constituted by the following criteria: (1) location (2)

periphery and shape (3) internal structure (4) effect on

surrounding structures and (5) periosteal reactions [16].

The radiographic appearance frequently gives clues to the

true nature of a lesion. For example, the periphery or the

boundary of lesion constitute a broad classification as ill-

defined, well-defined with corticated margins and well-

defined with sclerotic margins

An illdefined (diffuse, irregular, moth-eaten, ragged)

periphery is suggestive of a lesion enlarging by invading

the surrounding bone. A well-defined (circumscribed)

periphery with corticated margins is suggestive of a lesion

enlarged by expansion. A well-defined periphery with a

sclerotic radiopaque margin is suggestive of an extremely

slow-growing lesion enlarged by expansion. Slow

growing lesions often cause expansion with cortical

bowing, while cortical destruction denotes aggressive

inflammatory or neoplastic lesions

Well-defined Ill-defined

Mixed radiolucent radiopaque lesions can be due to

inflammation, metabolic anomalies, fibro-osseous

conditions, or less commonly, malignant processes. [17]

The examples include, “cotton wool” appearance of

fibrous dysplasia and Paget’s disease, “orange-peel”

appearance or “ground glass” appearance of fibrous

dysplasia, “sunburst” appearance of central hemangioma,

and “wind-driven snow” appearance of Pindborg tumor

Mixed radiopaque-radiolucent lesion

exhibiting cotton – wool appearance

Orange peel opacity

Ground glass appearance

Sunburst pattern of trabeculations

Wind-driven snow appearance

Some benign lesions like ameloblastoma occurs in manyforms such as unilocular radiolucency resembling a cyst,soap-bubble pattern , or a multicystic appearance. Otherexamples with similar pattern are central giant cellgranuloma, central hemangioma, and odontogenickeratocystic tumor. “Honeycomb” or “solid pattern” areseen in tumors that have not undergone cystic degeneration

Multilocular lesion

The punched-out periphery is a characteristic feature of

multiple myeloma seen only when tumor destruction

extends to the surface of the bone and there is often no

new bone laid down

When lesions within the soft tissues are proximal to bone,

radiographs may elucidate whether the lesion is causing an

osseous reaction, eroding into the bone or invading the

bony cortex

Several oral lesions may be manifestations of systemic

diseases. For instance, multiple lyric lesions and loss of

lamina dura bone suggest the possibility of

hyperparathyroidism. Serum levels of calcium,

phosphorus, and alkaline phosphatase should identify this

metabolic abnormality. A patient with multiple

radiolucencies of the jaws or other bones may also have

multiple myeloma. Serum protein analysis can be useful

for identifying this disease process

Differential diagnosis is the art or process of

differentiating between two or more conditions / diseases

which share similar signs and symptoms. Differential

diagnosis should be approached on the basis of exclusion.

All lesions that cannot be excluded represent the initial

differential diagnosis and are the basis for ordering tests

and procedures to narrow the diagnosis. Attempts should

be done to come to timely diagnosis via more logical

routes such as decision trees rather than test-and error

methods. A decision tree is a flowchart that organizes

features of lesions so that the clinician can make a series

of orderly decisions to reach a logical conclusion

Decision tree of oral and maxillofacial lesions

The first decision to make when using the decision tree is

whether the lesion is a surface lesion, soft tissue

enlargement, or that of bony origin. Surface lesions consist

of lesions that involve the epithelium and superficial

connective tissue of mucosa and skin. They do not exceed

2-3 mm in thickness. Surface lesions are divided into three

categories based on their clinical appearance: white,

pigmented, and vesicular-ulcerated-erythematous. Soft

tissue enlargements are swellings or masses that are

divided into two categories: reactive and tumors. If a soft

tissue enlargement appears to be a tumor, the clinician

must next determine if the enlargement is benign or

malignant

Decision tree for oral mucosal lesions

Benign tumors, typically have a slow growth rate,

measured in months and years. They can be subdivided into

three categories: epithelial, mesenchymal, and salivary

gland tumors. Malignant neoplasms are more likely to be

painful and cause ulceration of the overlying epithelium

than benign lesions. Since malignant neoplasms invade or

infiltrate surrounding muscle, nerve, blood vessels, and

connective tissue, they are fixed or adherent to surrounding

structures during palpation. In general, benign tumors are

surrounded by a fibrous connective tissue capsule, which

may allow the lesion to be moved within the tissue

independent of surrounding structures

Central jaw lesions develop from both odontogenic and

nonodontogenic origins and have varying degrees of

destructive potential. Common benign cystic lesions

include radicular cysts, and follicular cysts. Benign solid

tumors represent a broad spectrum of lesions such as

ameloblastomas, odontomas, ossifying fibromas, and

periapical cemental dysplasia. Malignant tumors that often

involve the jaw bones include squamous cell carcinomas,

osteosarcoma, and metastatic tumors. In addition, vascular

lesions such as hemangioma and arteriovenous

malformations may develop, further expanding the

differential diagnosis

It should be emphasized, however, that the clinical

descriptions of this presentation are general guidelines,

and exceptions occur. Removal of the lesion and

microscopic examination of the tissue is often the only

way to arrive at a definitive diagnosis

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