Book 2 IJFMT Oct.2020.Indb

1412 Indian Journal of Forensic Medicine & Toxicology, October-December 2020, Vol. 14, No. 4 Syndromes of Head and Neck – A Quick Review Sangeetha Priya.P1, Aravindha Babu2, K.M.K.Masthan3, N.Anitha4 1Post graduate Student, 2Professor, 3Professor and Head, 4Reader, Department of Oral Pathology and Microbiology, Sree Balaji Dental College and Hospital, Bharath Institute of Higher Education and Research, Pallikaranai, Chennai Abstract The aggregate of signs and symptoms associated with any morbid process and constituting together the picture of the disease and related to each other anatomically, biologically and physiologically. A group of deformation and malformation sequence etc that occurs together due to some identifiable underlying cause. The aim of this review is to describe a collective knowledge about various syndromes associated head and neck- A dentist point of view Keywords: Syndrome, Metabolism, Dental, Orofacial. Introduction one disease. For example, toxic shock syndrome can be caused by various toxins. The real importance behind the learning of syndromes associated with conditions is of relevance to If an underlying genetic cause is suspected but clinical examination of the head and neck. Knowledge not known, a condition may be referred to as a genetic of syndrome may quickly solve some difficult diagnostic association . By definition, an association indicates problems and appropriate treatment instituted . The that the collection of signs and symptoms occurs in following list takes you through conditions met by the combination more frequently than would be likely by authors either in their clinical practice or in examinations chance alone. and which could therefore be considered worth knowing and helpful in academic and clinical excellence. Syndromes are often named after the physician or group of physicians that discovered them In some instances, a syndrome is so closely associated or initially described the full clinical picture. with a pathogenesis and that the words yndrome, Such eponymous syndrome names are examples disease, and disorder end up being used interchangeably. of medical eponyms. Recently, there has been a shift This is especially true of inherited syndromes. For towards naming conditions descriptively by symptoms example, Down syndrome, Wolf–Hirschhorn syndrome, or underlying cause rather than eponymously, but the and Andersen syndrome are disorders with known eponymous syndrome names often persist in common pathogeneses, so each is more than just a set of signs usage and symptoms, despite the syndrome nomenclature1,2. In other instances, a syndrome is not specific to only DIAGNOSIS BETWEEN A SYNDROME AND A DISEASE: Corresponding Author : Representing medical knowledge is a highly complex Dr. Sangeetha Priya.P endeavor. The improper use of the terms “syndrome”, Post graduate student, Department of Oral Pathology “disease” and their relations to “diagnosis” is one of and MicrobiologySree Balaji Dental College and the difficulties with which medical informaticians must HospitalBharath Institute of Higher Education and deal, especially when developing expert systems to Research, 9884770609 support diagnoses. Although ubiquitous in medical and [email protected] lay discourse, the term “disease” has no unambiguous, Indian Journal of Forensic Medicine & Toxicology, October-December 2020, Vol. 14, No. 4 1413 generally accepted definition. However, most of those medical concepts but are not diagnoses, whereas more using this term allow themselves the comfortable specific syndromes such as “congestive heart failure” delusion that everyone knows what it means3. or “right heart failure” are diagnoses6. Due to the imprecision of natural language, some syndromes could Diagnostic categories (diseases and most also imply a simple pathological finding (vasculitis) or syndromes) are simply concepts. They are justified only just a physical finding. Frequently, for example, arthritis if they provide a useful framework for organizing and syndromes are simply referred to as “arthritis”. explaining the complexity of clinical experience in order to derive inferences about outcome and if they guide CAUSES FOR A SYNDROME: decisions about treatment. When one or more chromosome is missing or A syndrome is a recognizable complex of mutated or if extra chromosome are present, then symptoms and physical findings which indicate a there is incorrect number of proteins made , this may specific condition for which a direct cause is not cause abnormal development and growth and result necessarily understood. Thus in practice doctors refer in syndrome. Sometimes these abnormal genes or to the infamous “viral syndrome” as such because of chromosomes are passed down from the parent and the uncertainty regarding the legion of viral agents that sometimes they occur spontaneously without reason7,8. is causing the illness4. Once medical science identifies CLASSIFICATION OF SYNDROME9-11: a causative agent or process with a fairly high degree of certainty, physicians may then refer to the process 1) Etiologic classification as a disease, not a syndrome. Mucocutaneous lymph node syndrome became Kawasaki syndrome which in 2) Embryologic or histologic classification turn metamorphosed into Kawasaki disease; the latter 3) Syndrome prototype is properly a disease, no longer a syndrome, by virtue of its clearly identifiable diagnostic features and disease 4) Polythetic classification progression, and response to specific treatment. 5) Monothetic classification Albert et al. catalogued six general views or concepts about what types of conditions may be said to constitute 6) Mixed classification a disease. These views range from nominalism and 7) Morphogenetic classification cultural-relativistic theories (i.e. some conditions become a disease when a profession or a society labels it as such) 1.ETIOLOGIC CLASSIFICATION to a “disease realism” view (objectively demonstrable Syndromes can be classified according to broad departure from adaptive biological functioning). The etiologies suc as latter model is the one best suited to the present state of medicine; it emphasizes that the clinical signs and i) Monogenic symptoms do not constitute the disease and that it is not until causal mechanisms are clearly identified that we ii) Chromosomal can say we have “really” discovered the disease5,6. iii) Environmental induced Medical literature, even that from governmental Such classification usually requires supplementary organizations and institutions authorized to implement category such as : Multifactorial , Unknown, and standards, is plagued with misleading assertions such as Disruptive “a syndrome is a disease …”, “a syndrome indicates a particular disease…” and “Lyme disease syndrome” (It 2.EMBRYOLOGIC / HISTOLOGIC is inappropriate to apply “syndrome” to Lyme disease CLASSIFICATION because its causative agent is known). Developmental disturbances of the tissue structure Some syndromes such as “heart failure” are useful are basis of some classification. Thus hematoneoplastic 1414 Indian Journal of Forensic Medicine & Toxicology, October-December 2020, Vol. 14, No. 4 syndrome are sometimes classified on the basis of the Non-contiguous malformation , Embryonic germ layer involved. p l e i o t r o p y , L a c k o f b i o c h e m i c a l d e fi n i t i o n example- Trisomy 13 syndrome, Rubenstein Tyabi EXAMPLE : 1) Multiple osteochondroma involves syndrome only one germ layer- the mesoderm iv) Dyshistogenic syndrome (Tissue) 2) Gardner syndrome involves all three germ layer A) SIMPLE : Involvement of only 1 germ layer , Inheritance- dominant or recessive Example: 3.Polythetic classification: syndromes sharing a Achondroplasia large portion of their principal anomalies are grouped together . They are even better aid in differential B) HEMARTONEOPLASTIC SYNDROME diagnosis. : Hamartomas or neoplasias, involves more t h a n 1 g e r m l a y e r , c o m m o n l y d o m i n a n t . 4.Syndrome prototype by Herrmann and Opitz 1974 Example : Peutz Jeghers syndrome, Gardners syndrome and Cohen 1982: 5.MONOTHETIC CLASSIFICATION i) Dysmetabolic syndrome (metabolism) In this type of classification , syndromes are grouped Normal birth, uniform clinical feature, no congenital together because they share a single feature such as for malformation, biochemically defined, recessive mode of example cleft palate. Such groupings are often used as inheritance Example : Hurler syndrome , Tay- Sachs an aid in differential diagnosis, for example : Disease. i) Syndrome with arthrogryposis ii) Deformation syndrome ( region) ii) Syndrome with craniosynostosis Changes in shape of previously normal structure, lack of movement – mechanical andfunctional, iii) Syndrome with propensity commonly affects musculoskeletal system LIST OF SYNDROMES ACCORDING TO ORAL iii) Malformation syndrome ( organ or field) CAVITY SITE SYNDROMES ASSOCIATED WITH DEFORMATION IN LIP12 FEATURES SYNDROME Double lip Ascher’s syndrome Cowden’s syndrome Pebbly lesions of lip Down’s syndrome Everted lip Fusion of upper lip to maxillary gingival Fusion of upper lip to maxillary gingival Thick lips Hurler syndrome Pigmented lip Laugier – Hunziker syndrome Neuromas of lip Multiple endocrine neoplasia syndrome Cleft lip Goltz Gorlin syndrome Reiger’s syndrome Protruding lip Occurrence of pits of lip Van Der Woude’s Syndrome Whistling face syndrome Whisting Lips Dryness and fissuring of lips Mucocutaneous lymph node syndrome Indian Journal of Forensic Medicine & Toxicology, October-December 2020, Vol.

Load more