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Section 1
Pathology asthe Foundation ofMedicine
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t.me/Dr_Mouayyad_AlbtousH
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Introduction toPathology
S. R. Prabhu1 and Suja Pillai
1
School of Dentistry, University of Queensland, Brisbane, Queensland, Australia
2
Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia
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1.1 Introduction
Pathology is the medical speciality concerned with the scientific study of the nature and causes of
diseases. It bridges science and medicine and supports every aspect of patient care, from diagnostic
testing, treatment and advice to disease prevention. The origin of the term (etymology) ‘pathology’
is derived from the Greek words ‘Pathos’ and ‘logy’, meaning the study of suffering(1). ‘Disease’
refers to a definable deviation from normal phenotypic observable characteristics evident via
patient symptoms and signs(2). The cause of the disease is referred to as its aetiology. One disease
entity can have more than one aetiology, and it is also possible that one aetiology can lead to more
than one disease. Sometimes, the affix pathy indicates a disease state in both physical ailments,
such as cardiomyopathy, and psychological conditions, such as psychopathy (3). Each disease
develops through physical, chemical and cellular events. This stepwise process of disease development is called its pathogenesis– a Greek word meaning generation of suffering(2). It leads to cellular and tissue function changes. A pathologist is a specialist in pathology who offers diagnosis
using observations at the clinical, gross, body fluid, light microscopic, immunophenotypic, ultrastructural, cytogenetic and molecular levels(4). Pathologists diagnose disease by generating a differential diagnosis and then finding the best fit for the clinical presentation, the radiographic
appearance and the pathologic (clinical lab and morphologic) findings(2). The presentation of a disease to a clinician is in the form of a human patient with variably specific complaints (symptoms).
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1.2 History ofPathology
Pathology has evolved over the years as a distinct discipline. Its roots arise in pre- historic and
medieval times. The earliest concept of disease was the religious belief that disease was the outcome of a ‘curse from God’ or the belief that it had a supernatural cause from the ‘evil eye of
spirits’(5). The rational approach to disease by methods of observation followed after many decades. Gross features of the disease that were directly visible, either in the living or dead, came first
Pathological Basis of Oral and Maxillofacial Diseases, First Edition. Edited by S. R. Prabhu, Syed Ali Khurram,
Omar Kujan and Merva Soluk Tekkesin.
© 2025 John Wiley & Sons Ltd. Published 2025 by John Wiley & Sons Ltd.
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to notice, and documentation of the disease began with Egyptian medicine. In the last three
centuries BC, the Greeks, heavily influenced by Hippocrates, made lasting contributions to
anatomy and pathology(6). Hippocrates (460– 370 BC) is traditionally considered ‘the father of
medicine’. He disassociated disease from religion and magic. He believed in studying patients’
symptoms and described methods of diagnosis(6). His collection of writings based on observations of cases called the Hippocratic Corpus was the mainstay of learning medicine for over two
thousand years. In Rome, Hippocratic teaching was promoted by Cornelius Celsus (53 BC– 7 AD)
and Claudius Galen (130– 200 AD)(6). Celsius was the first to describe the following four cardinal
signs of inflammation: rubor, tumour, calor and dolor(6). In addition, Galen postulated humoral
theory (Galenic theory). According to this theory, an imbalance of four body fluids – blood,
lymph, biliary secretion from the liver and bile, which was believed at that time to be from the
spleen– resulted in illness(6).
Human anatomy and gross pathology became popular during the Renaissance (14– 17th century). During this period, anatomic dissections were performed in various theatres in ancient parts
of Europe. Correlations of clinical manifestations of disease with gross pathological findings at
autopsies became the major method of study of pathology until the middle of the 17th century.
Before 1668, Antony van Leeuwenhoek (1632– 1723)(6, 7), a cloth merchant in Holland, invented
the first- ever hand- held microscope by grinding the lenses. He recognised male spermatozoa using
his microscope and introduced staining using saffron to examine muscle fibres(6, 7). Other prominent individuals of this period who contributed to the development of pathology include Marcello
Malpighi (1624– 1694), Giovanni B Morgagni (1682– 1771), Sir Percival Pott (1714– 1788), John
Hunter (1728– 1793), William Hunter (1718– 1788), Edward Jenner (1749– 1823), Thomas Addison
(1793– 1860), Thomas Hodgkin (1798– 1866) and RTH Laennec (1781– 1826)(6– 10).
Pathology started developing in the latter half of the 19th century. Rudolf Ludwig Carl
Virchow(1821– 1902), a German physician and pathologist, is known as ‘the father of modern
pathology’(8,9). Virchow was the first to develop a systematic autopsy method based on his knowledge of cellular pathology(10). Virchow is also credited with several fundamental discoveries.
Hismost widely known scientific contribution is his cell theory. Virchow was the first to analyse
hair in criminal investigations and made the first forensic report in 1861(11, 12).
During the 19th century, many other individuals contributed to pathology. They include Louis
Pasteur (1822– 1895)(13) and G H A Hansen (1841– 1912)(14), who were responsible for discovering causative microorganisms for tuberculosis and leprosy, respectively (14). Other prominent
individuals who contributed to pathology during this period were Paul Ehrlich (1854– 1915)(13),
Christian Gram (1853– 1938), D L Romanowsky (1861– 1921), Robert Koch (1843– 1910), Sir William
Leishman (1865– 1926), Karl Landsteiner (1863– 1943) and G N Papanicolaou (1883– 1962)(6). In
addition, Joe Hin Tejo and Albert Levan (1956) identified chromosomes and their correct number
in humans(6). Other significant milestones in the development of modern pathology include the
identification of the Philadelphia chromosome in leukaemia in 1960, the introduction of the in
situ hybridisation technique in 1969, the recombinant DNA technique in 1974 and the polymerase
chain reaction (PCR) in 1983. In situ hybridisation was invented in 1969 by American biologists(15). Recombinant DNA technology was created in 1974 by Stanley Cohen of Stanford and
Herbert Boyer of UCSF(16).
1.3 Study ofPathology
Pathology is best studied in two stages: general pathology and systematic pathology.
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(a) (b)
1.3.1 General Pathology
General pathology is the foundation of pathology. The broad scientific field seeks to understand
the mechanisms of injury to cells and tissues and how to respond to and repair injury. Areas of
study include cellular adaptation to injury, necrosis, inflammation, wound healing and neoplasia.
General pathology covers basic knowledge that has to be acquired before studying systemic
pathology(17).
1.3.2 Systematic Pathology (Systemic Pathology)
Systematic pathology deals with descriptions of diseases affecting organs or organ systems. Some
pathologists discuss these diseases under the heading of systemic pathology. In recent years, however, the term systemic has been abandoned by many pathologists because the word ‘systemic’
refers to a disease that has spread to all body systems. The preferred term for the study of organbased pathology, therefore, is systematic pathology.
1.4 Specialities andSubspecialties ofPathology
1.4.1 Anatomical Pathology
Anatomical pathology is a medical speciality concerned with diagnosing disease based on the
gross, microscopic, chemical, immunologic and molecular examination of organs, tissues
and thewhole body (autopsy). Anatomic pathology has two subdivisions: histopathology and
cytopathology(17).
The pathology laboratory receives large whole organs, or parts of organs, removed during surgery. These specimens are examined for size, shape, colour and external abnormalities (gross
pathology) (Figure 1.1a). The initial step in reviewing a clinical specimen is confirmation
of the identity of the patient and the anatomical site from which the sample was obtained.
Next,theclinical team should communicate sufficient clinical data to the pathology team to
guide theappropriate diagnostic examination and interpretation of the specimen. After recording these findings, smaller samples are taken for definitive microscopic evaluation. Surgical
pathology allows for a definitive diagnosis of the disease. This is usually performed by a
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Figure1.1 Ameloblastoma of the mandible. Gross pathology of a surgical specimen (a) and
histopathologic features (b). Source: With permission of WebPathology, LLC.
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combination of gross (Figure1.1a) and histopathologic (Figure1.1b) examinations of the tissue
and may involve evaluations of molecular properties of the tissue by immunohistochemistry or
other laboratory tests.
1.4.1.1 Histopathology andCytopathology
Histopathology is a branch of anatomic pathology that involves an examination of tissue from
biopsy or surgery under the microscope, often aided by special staining techniques and other associated tests, such as using antibodies to identify different tissue components. Histological tissue
sections are processed for microscopic viewing using chemical fixation or frozen sections. Frozen
section processing involves freezing the tissue and generating thin frozen slices of the specimen,
which are mounted onto glass slides. Before viewing the tissue under a microscope, slides processed by chemical fixation or frozen sections are either stained with chemicals or antibodies to
reveal cellular components(17).
Cytopathology (cytology) examines single cells or small groups of cells from scrapings or aspiration of fluid or tissue under the microscope (Figure1.2). It is not only usually used to aid in diagnosing cancer but also helps diagnose certain infectious diseases and other inflammatory
conditions. A common example of a cytology test is the cervical Pap smear.
A brief description of the biopsy and autopsy is in order here.
Biopsy refers to removing cells or tissues for examination by a pathologist. The pathologist may
study the tissue under a microscope or perform other tests on the cells or tissue. There are many
different types of biopsy procedures. The most common styles include (i) incisional biopsy, in
which only a sample of tissue is removed; (ii) excisional biopsy, in which an entire lump or suspicious area is removed; and (iii) needle biopsy, in which a sample of tissue or fluid is removed
with a needle. The procedure is called a core biopsy when a wide needle is used. When a thin
needle is used, the process is called a fine- needle aspiration biopsy (FNAB)(17).
An autopsy is a specialised surgical procedure performed by a pathologist. It consists of a thor-
ough examination of a corpse to determine the cause and manner of death and to evaluate
anydisease or injury that may be present. The principal aim of an autopsy or post- mortem
examination is to determine the cause of death, the person’s state of health before they die,
andwhether any medical diagnosis and treatment before death were appropriate(17).
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Figure1.2 Cytological smear
showing individual cells.
1.5 Laboratory Medicine (Clinical Pathology)
Laboratory medicine, or clinical pathology, is a medical speciality concerned with diagnosing disease based on the laboratory analysis of bodily fluids, such as blood, urine and tissues, using the
tools of chemistry, microbiology, haematology and molecular pathology(17).
1.5.1 Chemical Pathology (Clinical Biochemistry)
Chemical pathology is also known as clinical biochemistry. This subspeciality of clinical pathology
includes blood chemistries (e.g. electrolytes, blood gases, lipids, liver and kidney function tests),
the study of hormones and diagnosis of endocrine disorders, the study of drugs of abuse and other
chemicals (toxicology), measurement of therapeutic medications, blood levels to optimise dosage
and chemical analysis of urine for a wide array of diseases, along with other fluids such as cerebrospinal fluid (CSF) and effusions(17).
1.5.2 Hematopathology
Hematopathology (haematology) deals with disorders of the cellular and coagulable components
of the blood. Haematology tests such as complete blood count and peripheral blood smear analysis
are commonly ordered tests in clinical laboratories. Physicians specialising in this field are referred
to as haematologists. Haematologists also diagnose disorders of the bone marrow and lymphatic
system(17).
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1.5.3 Immunopathology
Immunopathology (immunology) deals with the specific defence mechanisms of the body.
Immunopathology consists of adverse reactions generated by the immune response, divided into
humoral and cellular (T- cell- mediated) responses. Immunopathology also includes the study of
autoimmune diseases, which represent a failure of the normal mechanisms that maintain immunologic homeostasis in response to specific antigens(17).
1.6 Molecular Pathology
Molecular pathology is an emerging discipline of pathology. It can be broadly defined as the testing
of nucleic acids within a clinical context. The applications of molecular diagnostics span a range of
human disorders, including hereditary, neoplastic and infectious diseases. Many molecular pathology techniques rely on labelled antibodies and nucleic acid probes and are either slide or fluid
based. Molecular- based assays are used for specific purposes, such as establishing the basis of an
existing disorder (diagnostic testing), determining the presence of a genetic condition when there
are no apparent symptoms (predictive testing), carrier testing, assessing a foetus for abnormalities
(prenatal testing), detecting cancer- causing genetic mutations and selecting pharmacotherapy.
Techniques include PCR, multiplex PCR, DNA microarray, in situ hybridisation, in situ RNA
sequencing, molecular profiling of pathogens and analysis of bacterial genes for antibacterial
resistance(17).
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1.7 Genetic Pathology
Genetic pathology refers to the study of abnormal chromosomes and genes. It focuses on the analysis of human genes for mutations that cause disease. This is a relatively new subspecialty of
pathology(17).
1.8 Oral andMaxillofacial Pathology
Oral and maxillofacial pathology (OMFP) refers to the diseases of the oral cavity, jaws and related
structures, including salivary glands, temporomandibular joints, facial muscles and perioral skin.
It is considered to be a speciality of dentistry and pathology. OMFP significantly contributes to
head and neck services worldwide(17, 18).
1.9 Forensic Pathology
Forensic pathology is a branch of pathology concerned with determining the cause of death by
examination of a corpse. The pathologist performs the autopsy at the coroner’s request, usually
during the investigation of criminal and civil law cases in some jurisdictions. Forensic pathologists
are also frequently asked to confirm the identity of a corpse(17, 19).
1.9.1 Forensic Odontology
Forensic odontology is a sub- division of forensic pathology, defined as a branch of dentistry that
deals with processing, reviewing, evaluating and adequately handling and examining dental evidence in the medico- legal process. Forensic odontology requires an interdisciplinary knowledge of
all dental specialities. Methods like rugoscopy, cheiloscopy, bite marks, tooth prints, radiographs,
photographs and molecular techniques are included in forensic odontology. Forensic odontology is
used to identify victims and suspects in mass disasters, abuse and crimes(20).
1.10 Digital Pathology
Digital pathology is the practice of pathology using digital imaging. With the whole- slide imaging
(WSI) technique, digital pathology allows digital image sharing between different locations for
education, research and diagnosis. Digital pathology is on the verge of becoming a mainstream
option for routine diagnostics(17, 21).
1.11 Summary
Pathology is the medical speciality concerned with studying the nature and causes of diseases. It
deals with several subspecialties, such as general pathology, anatomical pathology, chemical
pathology, hematopathology, immunopathology, forensic pathology, genetic pathology and
OMFP(17).
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References
Pathologists consider each disease to have an aetiology (initial cause), a pathogenesis (stepwise progression) and a natural history with effects on normal function (clinical outcome).
Pathologists collect the data needed to answer patients’ and clinicians’ questions, phrased
as‘What is it?’ (diagnosis), ‘How is it going to behave?’ (prognosis) and ‘How do I treat it?’
(prediction of response to therapy). Instincts, diagnostic criteria and the optical, mechanical,
chemical and computing technologies described previously are the basis for modern service in
pathology.
References
1 Janssen DF. From pathognomicha and passiologia to pathologia: a concise history of a neologism
(1486– 1598). Pathologica. 2022;114(2):185– 8. https://doi.org/10.32074/1591- 951X- 261.
2 Funkhouser WK. Pathology: the clinical description of human disease. Mol Pathol. 2009:197– 207.
https://doi.org/10.1016/B978- 0- 12- 374419- 7.00011- 1.
3 Kumar V, Abbas AK, Fausto N, Aster JC. Robbins and Cotran Pathologic Basis of Disease,
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edition. Philadelphia: Saunders/Elsevier; 2010.
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4 Cross SS. Underwood’s Pathology: A Clinical Approach. Elsevier– Health Sciences
Division; 2018.
5 Long E. History of Pathology. NewYork: Dover; 1965.
6 Mohan H, Mohan S. Introduction to Pathology. Essential Pathology for Dental Students,
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edition. New Delhi: Jaypee Brothers Medical Publishers; 2017, pp. 1– 8.
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7 Lane N. The unseen world: reflections on Leeuwenhoek (1677) ‘concerning little animal’. Philos
Trans R Soc B: Biol Sci. 2015;370(1666). https://doi.org/10.1098/rstb.2014.0344.
8 Huisman F, Warner JH. Locating Medical History: The Stories and Their Meanings. Baltimore:
Johns Hopkins University Press; 2004, p. 415.
9 Turk JL. Rudolf Virchow— Father of cellular pathology. J R Soc Med. 1993;86:688– 9.
10 Silver GA. Virchow, the heroic model in medicine: health policy by accolade. Am J Public Health.
1987;77(1):82– 8. https://doi.org/10.2105/AJPH.77.1.82.
11 Committee on Science, Technology, and Law, Federal Judicial Center, National Research Council,
Policy and Global Affairs, Committee on the Development of the Third Edition of the Reference
Manual on Scientific Evidence. Reference Manual on Scientific Evidence, 3
Academies Press; 2011, p. 112.
12 Wagner RP. Anecdotal, historical and critical commentaries on genetics. Rudolph Virchow and the
genetic basis of somatic ecology. Genetics. 1999;151(3):917– 20. https://doi.org/10.1093/
genetics/151.3.917.
13 Mohan H, Mohan S. Introduction to pathology. In: Mohan H, Mohan S, editors. Essential Pathology
for Dental Students. Delhi: Jaypee Bros. Medical Publishers(P) Ltd; 2017, pp. 1– 9.
14 Irgens L. The discovery of the leprosy bacillus. Tidsskr Nor Laegeforen. 2002;122(7):708– 9.
15 Pardue M- L, Gall JG. Formation and detection of RNA- DNA hybrid molecules in cytological
preparations. Proc Natl Acad Sci USA. 1969;63:378– 83.
16 Japan Prize. Scientific career. Fields…pp. F1, F5. ISSN 0362…“Is Kary Mullis God? (Or Just the
Big Kahuna?)”. Esquire. 1993;122(1):68– 75.
17 Royal College of Pathologists of Australia. What is pathology. In: Career in Pathology. Pathology
Update; 2017, pp. 1– 4. https://www.rcpa.edu.au/Pathology- Careers/What- is- Pathology.
18 Neville BW, Damm DD, Allen CA, Bouquot JE. Oral & Maxillofacial Pathology, 2
Philadelphia: W.B. Saunders; 2002.
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19 De Matteis A, Del Fante Z, Santoro P. Forensic pathology: past, present and future. Clin Ter.
2020;171(4):e302– 3. https://doi.org/10.7417/CT.2020.2232.
20 Mohammed F, Fairozekhan AT, Bhat S, Menezes RG Forensic odontology. [Updated 2023 August 14].
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023January. Available from:
https://www.ncbi.nlm.nih.gov/books/NBK540984/
21 Pantanowitz L. Twenty years of digital pathology: an overview of the road travelled, what is on the
Horizon, and the emergence of vendor- neutral archives. J. Pathol. Inf. 2018;9:40. https://doi.org/
10.4103/jpi.jpi_69_18.
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Global Scenario, Aetiology and Risk Factors Associated with Oral
and Maxillofacial Diseases: An Overview
Nesa Aurlene Jayadhas and Santosh Kumar Tadakamadla
Dentistry and Oral Health, Latrobe Rural Health School, La Trobe University, Bendigo, Victoria, Australia
2.1 Introduction
Worldwide, the prevalence of common oral diseases like dental caries, gingivitis and periodontitis
remains relatively high despite the availability of successful measures to prevent oral diseases
resulting from dental plaque accumulation. Likewise, oral cancer is also a highly prevalent disease
and is among the top15most common cancers in the world(1). Untreated dental decay is the most
common health condition worldwide, and oral diseases, including dental caries, gingivitis, periodontitis and oral cancer, affect almost half of the global population(1). This chapter presents an
overview of the prevalence of common oral diseases worldwide, the individual and system- level
risk factors for oral diseases and global trends.
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2.2 Global Prevalence andAetiology ofCommon Oral Diseases
2.2.1 Dental Caries
The World Health Organisation’s (WHO) Global Oral Health Status Report (2022) estimates that
globally, there are around 2 billion people with dental caries of permanent teeth, and nearly 0.5
billion children present with caries in their primary teeth(2). This makes dental caries the most
common disease condition that affects mankind. Dental caries is a disease that is caused by localized destruction of the hard tissues of the teeth, the main etiological agent for dental caries are
bacteria present in dental plaque. Bacteria in the dental plaque break down sugar substrates and
release organic acid which is responsible for the demineralization and destruction of tooth structure (3). Data from the Global Burden of Disease study (GBD, 2019) has revealed that the prevalence of dental caries has remained substantially high in all countries in the world from 1990 to
2019(4). In 2019, un treated dental caries of the permanent teeth was the most prevalent health
condition in the world, with an estimated 2 billion experiencing dental caries in permanent dentition(4). Likewise, the high prevalence of caries in deciduous teeth made it the most prevalent
health condition among all diseases among 0- to 14- year- old children, with half a billion children
presenting with caries in primary teeth(4).
Pathological Basis of Oral and Maxillofacial Diseases, First Edition. Edited by S. R. Prabhu, Syed Ali Khurram,
OmarKujan and Merva Soluk Tekkesin.
© 2025 John Wiley & Sons Ltd. Published 2025 by John Wiley & Sons Ltd.
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