Pathognomonic

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Pathognomonic (often misspelled as pathognomic and sometimes as pathomnemonic) is a term, often used in medicine, that means characteristic for a particular disease. A pathognomonic sign is a particular sign whose presence means that a particular disease is present beyond any doubt. Labelling a sign or symptom "pathognomonic" represents a marked intensification of a "diagnostic" sign or symptom.

The word is an adjective of Greek origin (παθογνωμονικόν [σύμπτωμα]), derived from páthos ("πάθος" meaning "disease") and gnōmon ("γνώμον" meaning "judge").

Practical use[edit]

While some findings may be classic, typical or highly suggestive in a certain condition, they may not occur uniquely in this condition and therefore may not directly imply a specific diagnosis. A pathognomonic sign or symptom has very high specificity but does not need to have high sensitivity: for example it can sometimes be absent in a certain disease, since the term only implies that, when it is present, the doctor instantly knows the patient's illness. The presence of a pathognomonic finding, on the other hand, allows immediate diagnosis, since there are no other conditions in the differential diagnosis.

Singular pathognomonic signs are relatively uncommon. Examples of pathognomonic findings include Koplik's spots inside the mouth in measles, the palmar xanthomata seen on the hands of people suffering from hyperlipoproteinemia, Negri bodies within brain tissue infected with rabies, or a tetrad of rash, arthralgia, abdominal pain and kidney disease in a child with Henoch-Schönlein purpura.

As opposed to symptoms (reported subjectively by the patient and not measured) and signs (observed by the physician at the bedside on physical exam, without need for a report[citation needed]) a larger number of medical test results are pathognomonic. An example is the hypersegmented neutrophil, which is seen only in megaloblastic anemias (not a single disease, but a set of closely related disease states). More often a test result is "pathognomonic" only because there has been a consensus to define the disease state in terms of the test result (such as diabetes mellitus being defined in terms of chronic fasting blood glucose levels).

In contrast, a test with very high sensitivity rarely misses a condition, so a negative result should be reassuring (the disease tested for is absent). A sign or symptom with very high sensitivity is often termed sine qua non. An example of such test is a genetic test to find an underlying mutation in certain types of hereditary colon cancer.[1][2]

Examples[edit]

Disease Sign
Cytomegalovirus infection Owl's eye appearance of inclusion bodies[3][4]
Hodgkin's lymphoma Pain within minutes[5] after drinking alcohol.[6]

Reed-Sternberg cells (giant mono- and multinucleated cells) upon microscopy

Lyme disease Erythema chronicum migrans[7]
Inclusion body myositis Filamentous material seen in inclusion bodies under electron microscopy
Hypocalcemia Trousseau sign and Chvostek sign
Tetanus Risus sardonicus
Measles Koplik's spots
Diphtheria Pseudomembrane on tonsils, pharynx and nasal cavity
Chronic hemorrhagic pancreatitis Grey-Turner's sign (ecchymosis in flank area)
Cholera Rice-watery stool
Enteric fever Rose spots in abdomen
Meningitis Kernig's sign and Brudzinski's sign
Cholecystitis Murphy's sign (pain on deep inspiration when inflamed gallbladder is palpated)
Angina pectoris Levine's sign (hand clutching of chest)[8]
Patent ductus arteriosus Machine-like murmur
Pleural Effusion Stony-dull percussion
Parkinson's disease[citation needed] Pill-rolling tremors[citation needed]
Whipple's disease Oculo-masticatory myorhythmia
Acute myeloid leukemia Auer rod
Multiple sclerosis Bilateral internuclear ophthalmoplegia
Congestive heart failure Third heart sound
Pericarditis Pericardial friction rub
Neurofibromatosis I Plexiform neurofibroma
Pyelonephritis White blood cell casts
Rheumatic fever Aschoff bodies
Rabies Hydrophobia and negri bodies

See also[edit]

References[edit]

  1. ^ Lynch, H. T.; Lynch, J. F.; Lynch, P. M.; Attard, T. (2007). "Hereditary colorectal cancer syndromes: Molecular genetics, genetic counseling, diagnosis and management". Familial Cancer 7 (1): 27–39. doi:10.1007/s10689-007-9165-5. PMID 17999161.  edit
  2. ^ Lynch, H. T.; Lanspa, S. J. (2010). "Colorectal Cancer Survival Advantage in MUTYH-Associated Polyposis and Lynch Syndrome Families". JNCI Journal of the National Cancer Institute 102 (22): 1687. doi:10.1093/jnci/djq439.  edit
  3. ^ Page 268 in: Gibbs, Ronald Darnley; Sweet, Richard L. (2009). Infectious Diseases of the Female Genital Tract (INFECTIOUS DISEASE OF THE FEMALE GENITAL TRACT ( SWEET)). Hagerstwon, MD: Lippincott Williams & Wilkins. ISBN 0-7817-7815-8. 
  4. ^ Mattes FM, McLaughlin JE, Emery VC, Clark DA, Griffiths PD (August 2000). "Histopathological detection of owl's eye inclusions is still specific for cytomegalovirus in the era of human herpesviruses 6 and 7". J. Clin. Pathol. 53 (8): 612–4. doi:10.1136/jcp.53.8.612. PMC 1762915. PMID 11002765. 
  5. ^ Bobrove AM (June 1983). "Alcohol-related pain and Hodgkin's disease". The Western Journal of Medicine 138 (6): 874–5. PMC 1010854. PMID 6613116. 
  6. ^ Page 242 in: John Kearsley (1998). Cancer: A Comprehensive Clinical Guide. Washington, DC: Taylor & Francis. ISBN 90-5702-215-X. 
  7. ^ Ogden NH, Lindsay LR, Morshed M, Sockett PN, Artsob H (January 2008). "The rising challenge of Lyme borreliosis in Canada". Can. Commun. Dis. Rep. 34 (1): 1–19. PMID 18290267. 
  8. ^ Mark H. Swartz (2014). Textbook of Physical Diagnosis: History and Examination. Elsevier. p. 354. ISBN 9780323225076. 

External links[edit]