general and oral pathology diagnostic processes and soft tissue tumors

diagnosis

• the determination of the nature of a disease or condition;; an explanation for your findings

• correct diagnosis→ most appropriate and effective treatment

diagnostic process

1. gathering information

2. analyzing information

3. establish a diagnosis or possible diagnosis

gathering information

• patient chief complaint (primary symptom)

• history of present illness

• past medical history

• medication and allergy

• social/family history

• physical exam

  • intra and extra oral examination

  • paraclinical/lab and imaging tests

• biopsy

patient chief complaint

• the primary symptom that a patient states as the reason for seeking medical care

history of present illness

• following the chief complaint in medical history taking, a history of the present illness refers to a detailed interview prompted by the chief complaint or presenting symptom

• a detailed chronological narrative, as much as possible in the patients own words, of the development of the current health problem from its onset to the present

past medical history

• prior illness, their treatments and sequelae

medications/ allergies

• list of medications taken at the time of diagnosis by patient

• list of any allergy

social hisotry

• marital status, past and present occupations, travel, hobbies, stresses, diet, habits, and use of tobacco, alcohol, or drugs

family history

• present health or cause of death of parents, brothers, sisters, with particular attention to hereditary disorders

physical examination

• examination by means such as visual inspection, palpation, percussion, and auscultation to collect information for diagnosis

• very important to know normal anatomy and variations so that abnormalities are easily recognized

extraoral examination

• observation the eyes and pupils

• examination of the skin of head and neck for detection of any lesion

• palpation of the head and neck lymph nodes for any induration, mobility, and tenderness of lymph nodes and lymphadenopathy

• examination of thyroid gland

• bilateral palpation of the temporomandibular joints and examination of the patient for any limitations in opening the mouth or for any joint sounds

intraoral examination

• oropharynx and tonsils examination

• visualize and palpate the soft and hard palates and the maxillary tuberosity

• stretch out the buccal mucosa and labial mucosa, visulaize and palpate for any abnormality

• examine the mandible

• floor of the mouth

• tongue examination

• attached gingiva

• assess the amount and quality of the saliva (thick foamy saliva→ dry mouth)

• evaluation of parafunctional habits (bruxism)

describing and recording lesions

• size

• color

• site/location

• distribution

• and character should be noted

describing and recording the size of the lesions

• record the dimensions of the lesion in mm or cm (don’t say small or large as they are too vague)

• intraoral: use perio probe as ruler

• extraoral: use flexible rulers

describing and recording the color of lesions

• normal mucosa-like color, white (keratotic), red, black-brown, bluish-grey…

• homogenous (even throughout) or variegated (uneven) color are one of the features distinguishing a nevus from melanoma

describing and recording the site/ location of lesions

• be specific

• give anatomic relationships (left buccal mucosa, anterior to parotid papilla)

• left, right, anterior, posterior

• superior, inferior, medial, lateral

• facial, lingual

describing and recording the distribution of lesions

• localized (found in one are only) or generalized (located in most of the tissues in one area)

• single or multiple

• in case of multiple lesions, being discrete and separate or being coalescing

• margins: well defined or circumscribed vs poorly defined

describing and recording the character of lesions

• flat, raised, or depressed

• surface texture: smooth, rough (papillary, granular, shaggy, pebbly, ulcerated)

• consistency on palpation: fluctuant (fluid filled), soft, doughy, rubbery, firm (fibrous), hard

macule/ patch

• a flat lesion differentiated from surrounding tissue by color alone

macule

less than 1 cm in diameter

patch

more than 1 cm in diameter

papule

a solid raised lesion less than 5 mm

plaque

a solid, raised, flat topped lesion greater than 5 mm in diameter

vesicle

an elevated lesions less than 0.5 cm in diameter, filled with a clear fluid. if larger than 0.5 cm, is called bulla

pustule

a raised lesion filled with pus

nodule

• a slightly larger papule, less than 2 cm

• anything larger may be called a tumor or mass

• exophytic nodule, grows outward from the surface of the tissue

• endophytic nodule, grows into the surrounding tissues and presents as palpable mass with or without any noticeable swelling

erosion

slightly depressed are of skin or mucosa in which part or all of the epidermis or epithelium has been lost

ulcer

loss of epithelium and underlying connective tissue

fissure

• a linear cleavage of skin or mucosa which may extend into the dermis or underlying connective tissue

differential diagnosis

• a list of possible diagnostic considerations

• arranged in descending order of probability

• 1st on your list = most likely diagnosis

working diagnosis

• tentative diagnosis; your clinical impression

• the most likely consideration from the differential diagnosis

• should be the first one listed on your differential diagnosis

paraclinical/lab and imaging tests

• blood/ serum test (CBC.,…)

• radiography/imaging (x-ray, CT, MRI, ultrasound…)

• molecular/cytogenic tests (most of the times for confirmation of final diagnosis)

radiopaque or radiodense

• stronger x-ray absorption

• whiter/lighter apprearance

radiolucent

• darker appearance (weaker x-ray absorption)

describing radiographic findings

• localization: anatomic position, localized vs generalized, unilateral vs bilateral, single or multi

• shape: round, ovoid, scalloped, irregular, etc

• periphery (border): well defined vs poorly defined (invasive and malignant tumors)

• internal structure: radiolucent (unilocular or multilocular, radiopaque, or mixed RL/RO)

• effects on surrounding structures: resorption of teeth or expansion of bone, or resorption of cortex

serologic tests

• CBC

urinolysis

• detecting some compounds filtered out by the kidney such as hydroxyproline as a marker for bone destruction in Paget disease

microbiological cultures

• to find appropriate antibiotics

antibody tests

• such as SSA and SSB for Sjogren syndrome

DNA-PCR (polymerase chain reaction)

• identifying some viruses such as HIV

ELISA

• enzyme-linked immunosorbent assay

  • for detecting hormones, bacterial antigens, and antibodies

salivary function tests

• for example in Sjogren syndrome

electromyography

• for diagnosis of neurological and neuromuscular problems such as TMJ disorders

biopsy

• the process of taking a sample of living tissue for histopathologic examination

• gold standard for definitive diagnosis

• tissue specimen is process into glass slides and histologic features are evaluated microscopically

biopsy methods

• excisional biopsy

• incisional biopsy

• needle biopsy

• fine needle aspiration

excisional bipsy

• total removal of lesions, either as a surgical biopsy or a punch biopsy

incisional biopsy

• representative sample of the lesion either as surgical biopsy or punch biopsy

needle biopsy

• using a large-bore needle

fine needle aspiration

• using a small diameter needle

biopsy and tissue processing

• ten percent buffered formalin, as an ideal tissue fixative → tissue processor→ five micron thick section cute using a microtome→ staining the slides→ studying the slides under the microscope

exfoliative cytology - brush biopsy

• a cytologic smear

• scraping surface cells form the skin or mucous membranes

• non invasive procedure, no need for anesthesia

• oral cytological smears, helpful in diagnosis of candidiasis

• brush biopsy, collecting cells for cytological evaluation

• limited conclusions about the diagnosis

final diagnosis

• determined after analysis of all the diagnostic information, including

  • clinical findings

  • radiographic/ imaging studies

  • laboratory studies

  • biopsy findings

summary of diagnostic process

1. chief complaint

2. history of present illness

3. past medical history

4. medications and allergies

5. social/ family history

6. extra-oral examination

7. intra-oral examination

8. differential diagnosis

9. working diagnosis

10. paraclinical / lab and imaging tests

11. biopsy

12. final diagnosis

13. appropriate and effective treatment and management

reactive/ inflammatory conditions

• very common lesions

• patient may have local factor such as bacterial plaque or food retention that tissue has overreacted to

  • fibroma

  • giant cell fibroma

  • pyogenic granuloma

  • peripheral giant cell granuloma

  • peripheral ossifying fibroma

benign neoplasms of adipose tissue

• lipoma

benign neoplasms of neural origin

• neurofibroma/ neurofibromatosis

• schwannoma

• granular cell tumor

• congenital epulis

benign neoplasms of vascular origin

• hemangioma

• lymphangioma

• vascular malformation

fibroma

• most common “tumor” of the oral cavity

• not a true neoplasm- inflammatory/ reactive tumor

• reactive lesion, secondary to trauma or chronic irritation

• buccal mucosa as the most common location

• labial mucosa, tongue, and gingiva

• conservative surgical excision as the treatment, recurrence is rare

giant cell fibroma

• a fibrous tumor with distinctive clinicopathologic features

• may be clinically mistaken for a papilloma

• 50% of cases on the gingiva

• tongue and palate as other sites of involvement

• clinically may be misdiagnoses as squamous papilloma

giant cell fibroma histopathologic features

• papillary surface

• presence of giant stellate-shaped fibroblasts in the lamina propria

giant cell fibroma treatment

• simple, conservative excision

• recurrance is rare

restrocuspid papillae

• a normal anatomic variation

• on the gingiva lingual to the mandibular cuspid, frequently bilateral

• microscopically like giant cell fibroma

• no need for treatment

pyogenic granuloma

• a common non-neoplastic proliferation of granulation tissue

• a misnomer (not pyogenic, not granuloma)

• response to local irritation or trauma

• usually ulcerated

• gingiva is the most common site

• common during pregnancy

• easily bleeds

pyogenic granuloma treatment

• conservative surgical excision with removal of any local factors

• lesions associated with pregnancy may spontaneously regress postpartum

• recurrences occur due to remaining local factors (calculus)

• reactive lesion

fibroma is considered a

gingiva

• most common site for pyogenic granuloma

peripheral giant cell granuloma

• relatively common reactive lesion of the gingiva

• histologically identical to the central giant cell granuloma

• bluish-purple lesion

• radiographic- may cause “cupping” resorption (saucerization)

• almost exclusively on the gingiva or edentulous alveolar ridge

peripheral giant cell granuloma histopathologic features

• chocolate chip cookie like histology

peripheral giant cell granuloma treatment and prognosis

• local excision down to the underlying bone

• removal of local factors

• approximately 10% recurrence rate

peripheral ossifying fibroma

• not confused with “peripheral odontogenic fibroma”

• relatively common reactive lesion, probably arising from periodontal ligament

• unrelated to the central ossifying fibroma

• exclusively on the gingiva

• maxilla> mandible

• frequently ulcerated

peripheral ossifying fibroma treatment and prognosis

• local excision down to the periosteum

• elimination of local factors or irritants

• approximately 16% recurrence rate

gingiva or edentulous alveolar ridge

• peripheral giant cell granuloma occurs almost exclusively on

lipoma

• benign tumor of fat

• although rare in the oral/ maxillofacial area, the lipoma is the most common mesenchymal neoplasm

• unrelated to metabolism/ body fat

• F>M

• soft nodule, most

• commonly involving the buccal mucosa

• normal or yellow in color

lipoma treatment and prognosis

• conservative surgical excision

• recurrence is rare

neurofibroma

• as the most common type of peripheral nerve neoplasms

• a mixture of cell types, including Schwann cells and perineural fibroblasts

• skin as the most frequent location

• tongue and buccal mucosa as the most common intraoral sites

• on rare occasions, the tumor can arise centrally within the bone

• solitary or syndrome-related

• multiple lesions associated with neurofirbomatosis

neurofibromatosis type 1

• one of the most common autosomal genetic problems that affects humans

• occurs at a frequency of approximately 1 in 3,000 live births

• approximately half are transmitted as autosomal dominant trait; other half appear to be new mutations

• high variable gene expression- some cases are very mild, others are quite severe

• variety of manifestations, both cutaneous and oral

neurofibromatosis type I skin lesison

• cafe-au-lait spots

  • light brown (color of coffee with milk) macules with smooth (coast of California) borders

  • usually 6 or more greater than 1.5 cm

• axillary freckling

• lisch nodules (benign pigmented nodules of iris)

• multiple neurofibromas

multiple neurofibromas

• small, discrete lesions or massive pendulous ones

• neurofibromatosis type 1 skin lesion

neurofibromatosis type 1 management

• treatment consists of removing traumatized neurofibromas or disfiguring lesions

• genetic counseling

• follow for potential malignant transformation (malignant peripheral nerve sheath tumor)

schwannoma

• benign neural tumor of shwann cell origin

• uncommon, but often involved the head and neck

• young and middle aged adults

• slow growing

• variable symptoms

• oral tumors most commonly involve the tongue and may arise within the bone, causing an expansile, unilocular radiolucency

schwannoma treatment and prognosis

• surgical excision

• recurrence is not expected

• malignant transformation is rare

• malignant peripheral nerve sheath tumor, malignant schwannoma, neurofibrosarcoma

neurofibromatosis type 1

• which is associated with cafe-au-lait spots and lisch nodules

granular cell tumor

• a benign soft tissue neoplasm showing significant predilection for oral cavity

• of schwann cells origin

• tongue as the single most common site of involvement

• treatment: conservative surgical excision

congenital epulis

• rare lesion of underdetermined histogenesis

• found at birth on the maxillary ridge of girl babies

• smooth surfaced, often pedunculated, lobulated nodule

• vary in size

• the cells are granular histopathological

benign neoplasms of vascular origin

• hemangioma

• lymphangioma

hemangioma

• most common soft tissue tumors of infancy

• prevalence of 1-2% in neonates and 12% by the age of 1 year

• rapid postnatal growth for 8-12 months, followed by slow regression for the next 1-5 years

• head and neck as most common location

• capillary, cavernous, and juvenile as subtypes

arterior venous (vascular) malformations

• uncommon errors on vascular morphogenesis

• distinct from hemangioma

• not a neoplasm

• present at birth but may not clinically evident

• consist of abnormal channels lined by normal endothelium

• classified as arterial, venous, capillary, lymphatic, or combinations

vascular malformations

• are present at birth

• no rapid increase in size

• no involution

hemangioma

• not always present at birth

• rapid increase in size

• involution

presence at birth and involution

• key distinguishing feature between infantile hemangioma and vascular malformation

lymphangioma

• benign lymphatic counterparts of hemangiomas

  • simple capillary lymphangiomas

  • cavernous lymphangiomas (cystic hygromas)

• oral lesions: tongue is the most common sites with a “frogs egg” appearance

• deeper tumors appear as ill-defined masses

• alveolar lymphangiomas

simple (capillary) lymphangiomas

• raised lesions, up to 1-2 cm, predominantly seen in head, neck, and axillary subcutaneous tissues

cavernous lymphangiomas (cystic hydromas)

• found in the neck or maxilla of children up to 15 cm in size

• 75% occur in head and neck

lymphangioma treatment and prognosis

• surgical excision when appropriate

• recurrence common

• cystic hygroma usually has a lower recurrence rate