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Syndrome--a changing concept.

Syndrome is one of the oldest terms in the medical vocabulary. Traditionally, the term has been used mainly as a designation for complex medical entities, such as multiple abnormalities, that are characterized by clusters of concurring symptoms, usually three or more. During the mid-twentieth century, the meaning and the use of the term were altered. First to take place was an attempt to eliminate physicians' names from syndrome nomenclature, resulting in a significant increase in the use of descriptive designations in proportion to eponyms. But the trend was counterbalanced by the creation of new classes of eponyms. Eponymous syndrome nomenclature now includes the names of literary characters, patients' surnames, subjects of famous paintings, famous persons, geographic locations, institutions, biblical figures, and mythological characters. This was followed by a relaxation in the scope of the definition of syndrome, wherein the term could also be used as a modifier indicating a special (sometimes unspecified) complexity of an already named pathological condition. Eventually syndrome changed from its original use as an exclusively medical term and came to mean anything unusual, abnormal, bizarre, or humorous, whether medical, social, behavioral, or cultural. This unrestrained use of the term is the principal cause of an enormous volume of the sometimes irrelevant syndrome literature cluttering databases in the MEDLARS system and of the deterioration of "SYNDROME" as a specific MeSH term and a useful search parameter.

Abstracting and Indexing↗

Why does cirrhosis belong to Laennec?

It is well known that Laennec gave cirrhosis its name from the Greek word kirrhos (tawny), in a brief footnote to his treatise De l'auscultation médiate (1819), but the eponym "Laennec's cirrhosis" is rarely used in France. This article explores the reasons why North American physicians commemorate a French chest specialist in their name for a hepatic lesion that had first been recognized in England more than a century earlier. It traces the content and fortunes of Laennec's essay on cirrhosis, part of an incomplete manuscript, including its eventual partial publication by a British editor in the original French. A survey of 19th-century literature on cirrhosis revealed that it was not until the publication of William Osler's textbook that the eponym came into common use. The geographic patterns of influence of Osler's book and the differing preoccupations of physicians on the two sides of the English Channel probably combined to result in the paradoxic employment of this eponym.

England↗

Benign anatomical mistakes: "ampulla of Vater" and "papilla of Vater".

The anatomy of the ampullary termination of the bile and pancreatic ducts is complex; appropriate terminology for this area is confusing and inaccurate. We examine the terms "ampulla of Vater" and "papilla of Vater" for anatomical and historical correctness. The term "ampulla" refers to a dilated part of a duct or other channel. Thus, this word is topographically correct to describe the dilatation at the confluence of the bile and main pancreatic ducts; historically, however, there is considerable reason to believe that its first description was by Santorini rather than Vater. The eponymous term "papilla of Vater" is also incorrect historically. The use of eponyms is firmly entrenched in the medical literature, but some are so problematic that they should be discarded. The eponymous terms for both the ampulla and the papilla should be replaced with the terms "hepatopancreatic ampulla" (or "biliaropancreatic ampulla") and "major [or "greater"] duodenal papilla," respectively.

Ampulla of Vater↗

[Maximilian Koenigsbeck and localized pustular psoriasis].

In 1917, Maximilian Koenigsbeck in his thesis first described a localized type of pustular psoriasis confined to the hands and feet. That was the starting point for the development of the eponym "Koenigsbeck-Barber" disease for psoriasis pustulosa palmaris et plantaris. The present paper is the first report dealing with the life and work of Koenigsbeck. It includes a short biography, a discussion of Koenigsbeck's thesis in its historical context and the history of the eponym with emphasis on its current significance.

Adult↗

The misidentification of Clerambault's and Kandinsky-Clerambault's syndromes.

Eponymic terms or eponyms are labels describing phenomena that reflect the name(s) of the person(s) who first described the phenomena. Using a similar term to describe different forms of pathology leads to a muddle. In this paper, we describe "Clerambault's syndrome" and "Kandinsky-Clerambault's syndrome" and discuss and clarify the confusion surrounding these different syndromes.

Automatism↗

[Lhermitte's sign].

Besides Babinski's, Lhermitte's sign is likely the eponym mostly used in the neurological literature. We review here the history of this eponym as well as recent advances on its pathophysiology and treatment. Lhermitte's phenomenon is, on one hand, a symptom as it is spontaneously explained by patients, and, on the other hand, a sign as it may be triggered by flexion of the nape. Initially described after head and cervical spine trauma, firstly by Marie and then by Babinski, it was Jean Lhermitte who recognized on it an etiological specificity, namely, a demyelinating sign of cervical spinal posterior cords. He also made a pathophysiological interpretation of the phenomenon, namely, a stretching of posterior cords during flexion of the neck. All authors agree that this phenomenon is more common in multiple sclerosis, although it has been descibed in many other conditions. The history of how this sign was hatched, whose pathophysiology remains a mystery, is fascinating. And it is fascinating the fact that patients compare the phenomenon with a current, especially if we bear in mind that few people may have suffered an electrocution, mainly in that time when just a few ones could actually enjoy domestic electricity.

Cervical Vertebrae↗

Marjolin's ulcer. Report of two cases and evidence that Marjolin did not describe cancer arising in scars of burns.

Two patients who developed malignant neoplasms in scars (Marjolin's ulcers) are described in this report. The first patient developed a squamous cell carcinoma in the site of a chronic, draining urinary fistula. The malignancy later metastasized. The second patient developed a squamous cell carcinoma and a basal cell carcinoma in a scar from a burn and a keratoacanthoma in a scar from a vaccination. The history of the eponym "Marjolin's ulcer" is traced and it is pointed out that Marjolin did not describe the condition he is eponymously credited with, but that the false ascription to him arose over time.

Aged↗

Hyphenated history: the Hueter-Volkmann law.

The language that orthopedic surgeons speak is filled with eponyms. Perhaps more than any other medical specialty, we speak cryptically to one another using code words and secret language. Certain hyphenated eponyms are particularly interesting, because they pique one's curiosity as to how these persons came to be partners in orthopedic history. We will offer some bits of orthopedic hyphenated history, outlining the pertinent work of the respective authors as well as associated background information. This paper focuses on the Hueter-Volkmann law, an important orthopedic concept concerning bone growth. This law bears the names of the two men credited with enunciating and popularizing it, Carl Hueter and Richard von Volkmann.

Bone Development↗

Hyphenated history: the Phelps-Baker test.

The language of orthopedics is filled with eponyms. Orthopedic surgeons speak cryptically to one another using code words and "orthopedic pig-Latin." Certain hyphenated eponyms are particularly interesting, because they represent people who came to be partners in orthopedic history. The derivation of the Phelps-Baker test, an important component of the hip examination of children who suffer from cerebral palsy, named in honor of Winthrop Morgan Phelps and Lenox D. Baker, is described in this report.

Eponyms↗

Hyphenated history: Osgood-Schlatter disease.

The language of orthopedics is rather interesting in that it often credits the original describers or those who popularized a disease process by attaching their names to the disease process in question. These so-called "eponyms" have become quite commonplace in our literature and offer important orthopedic historical insight. Often throughout history, the simultaneous discovery of a disorder is described by two independent researchers, resulting in a hyphenated eponym. Such is the case in the observations made by two physicians, Robert Bayley Osgood and Carl Schlatter, concerning overuse injuries of the tibial tubercle in adolescents. This disorder subsequently became known as "Osgood-Schlatter disease, and aspects of its hyphenated history are the focus of this paper.

Eponyms↗

Terminologia anatomica: new terminology for the new anatomist.

Over many years, anatomical terminology has been the subject of much controversy and disagreement. Previously, the International Anatomical Nomenclature Committee has been responsible for the production of six editions of Nomina Anatomica. In 1989 a new committee, the Federative Committee on Anatomical Terminology (FCAT), was created by its parent body, the International Federation of Associations of Anatomists (IFAA). FCAT has worked for 9 years and published Terminologia Anatomica (TA) in 1998. FCAT's aim has been to democratize the terminology and make it the internationally accepted, living language of anatomy. The worldwide adoption of the same terminology would eliminate national differences, which were causing extreme confusion in instances where the same structure was known by several names. The new terminology is thus the result of worldwide consultation and contains Latin and equivalent English terms. It is indexed in Latin and English and contains an index of eponyms in order to find the correct non-eponymous term. The future goal of FCAT is to continue to improve the terminology-new structures are described, different terms come into use, and the terminology needs to be expanded to include terms used by clinicians for structures that currently do not appear in the list. Future versions of the terminology must accommodate the needs of all who use it, both in the clinical and scientific worlds.

Anatomy↗

Albert Wojciech Adamkiewicz: the discoverer of the variable vascularity of the spinal cord.

The present article contains a brief biography as well as a discussion of the more significant contributions of Albert Wojciech Adamkiewicz, Head of General and Experimental Pathology at the Jagiellonian University in Cracow in the years 1879 to 1892, and who is now primarily remembered as the discoverer of the major radicular artery eponymically named "Adamkiewicz's artery." His work as an investigator of the variability of the vasculature of the spinal cord led to his major contributions to present clinical practice in such areas as vascular surgery, neurosurgery, pediatric surgery, and the surgery of the aorta, providing a permanent Polish eponymic accent in major textbooks in these specialties. This article also deals with Adamkiewicz's contributions in other fields, mostly involving the nervous system, such as the development of a new and original method for staining neuronal tissue (double staining of the spinal cord) and his extensive studies of spinal cord degeneration. The authors also present aspects of his career that brought ill fame to Adamkiewicz. These were his claims to have discovered the so-called nervous bodies and anticancer antitoxin, which were both severely criticized by his faculty peers at the Jagiellonian University. The biography is supplemented with an attempt at evaluating Adamkiewicz's entire scientific output, wherein unquestionable achievements and pointed discoveries prevail in comparison with failures.

General Surgery↗

Craniosynostosis syndromes in the genomic era.

The origin of craniosynostosis is heterogeneous: hereditary, mechanical, teratogenic, and idiopathic. Craniosynostosis is further defined by the suture(s) involved and whether it is syndromic or nonsyndromic. Syndromic craniosynostosis typically involves cranial sutures plus central nervous system and extracranial skeletal changes. Nonsyndromic craniosynostosis is usually confined to cranial changes. The most common syndromic synostoses reflect changes in fibroblast growth factor receptor (FGFR) activity related to mutations in the genes coding for these receptors. Other genes have been implicated in craniosynostosis syndromes. Several craniosynostosis syndromes are caused by mutation of the same FGFR, making the eponymic designation (eg, Crouzon's or Pfeiffer's syndrome) unclear. Ultimately, syndrome eponyms may be replaced by designation of the underlying mutation. Neurologic complications may include mental retardation, increased intracranial pressure, and cranial nerve abnormalities. Craniosynostosis syndromes require careful physical examination, radiological investigation, and now molecular evaluation to predict outcome and risk of recurrence.

Cranial Nerve Diseases↗

Three-dimensional phase contrast MR cerebral venography with zero filling interpolation in the slice encoding direction.

The purpose of this study was to evaluate the magnetic resonance (MR) cerebral venography findings of a three-dimensional phase contrast MR sequence with zero filling interpolation of the data in the slice encoding direction. Fifty volunteers were enrolled in the study. Images were obtained on a 1.5 MR imaging system with acquisition time of 12 min. MIP images were reconstructed throughout the entire imaging volume. A grading scale system was used to assess dural venous sinuses, major deep veins, cortical, and cortical eponymic veins. Inferior group of dural venous sinuses, inferior sagittal sinus, and cortical eponymic veins were poorly demonstrated. Score of the superior sagittal sinus, the straight sinus, the confluence of the superior sinus group, the right transverse and sigmoid sinuses, the internal veins, and the vein of Galen was excellent. The score of the left transverse and sigmoid sinuses was good. In conclusion, when using zero filling interpolation of the data in a three-dimensional phase contrast MR cerebral venography sequence, the superior group of dural venous sinuses and main major deep veins are demonstrated with good conspicuity.

Adolescent↗

History and clinical significance of mechanical symptoms in blistering dermatoses: a reappraisal.

In the era before the advent of routine microscopy and immunopathology, mechanical symptoms were described in an attempt to facilitate clinical diagnosis of blistering dermatoses. A plethora of eponyms and signs were described, but no proper original quotations exist. All the eponyms haunt the student and specialist. In the case of an ominous and, therefore, very important clinical phenomenon termed the Nikolskiy sign, this creates confusion about the specific meaning of the term, obscuring diagnosis and delaying initiation of an adequate treatment of pemphigus. We try to set this record straight and go to the sources. Russian, German, French, and English, at the least, are required to properly interpret the relevant descriptions. We provide an accurate interpretation of the major mechanical symptoms pathognomonic for acantholysis, dermoepidermal separation, and peeling of the entire epidermis. Correct performance of the tests and proper interpretation of the results can serve as an invaluable diagnostic tool to assist in the preliminary bedside diagnosis of serious and potentially lethal bullous dermatoses.

Europe↗

The mysterious relocation of the bundle of Türck.

The name bundle of Türck has become synonymous with the temporopontine tract. As details concerning this pathway have been confusing and incomplete we reviewed the papers of Ludwig Türck (1810-1868) to determine what in fact he originally described. Türck's pioneering degeneration studies provided great detail concerning the corticospinal tracts. Charcot recognized his contributions and used the eponym 'bundle of Türck' to denote the anterior corticospinal tract. Türck did not observe projections from the temporal lobe to the basis pontis, nor did he describe a temporopontine tract located at the most lateral aspect of the cerebral peduncle. The papers of Meynert, Flechsig and others reveal the origins of the current incorrect use of the eponym.

History, 17th Century↗

Molecular diagnosis of bilateral coronal synostosis.

The authors performed a prospective study evaluating molecular diagnosis in patients with bilateral coronal synostosis. The patients were divided into two groups: (1) those clinically classified as having Apert, Crouzon, or Pfeiffer syndrome and (2) those clinically unclassified and labeled as having brachycephaly. Blood samples were drawn for genomic DNA analysis from 57 patients from 1995 to 1997. Polymerase chain reactions were performed using primers flanking exons in FGFR 1, 2, and 3. Each exon was screened for mutations using single-strand confirmation polymorphism, and mutations were identified by DNA sequencing. Mutations in FGFR2 or FGFR3 were found in all patients (n = 38) assigned a phenotypic (eponymous) diagnosis. All Apert syndrome patients (n = 13) carried one of the two known point mutations in exon 7 of FGFR2 (Ser252Trp and Pro253Arg). Twenty-five patients were diagnosed as having either Crouzon or Pfeiffer syndrome. Five patients with Crouzon syndrome of variable severity had mutations in exon 7 of FGFR2. Fifteen patients (12 with Crouzon, 3 with Pfeiffer) had a mutation in exon 9 of FGFR2, many of which involved loss or gain of a cysteine residue. A wide phenotypic range was observed in patients with identical mutations, including those involving cysteine. Two patients labeled as having Crouzon syndrome had the Pro250Arg mutation in exon 7 of FGFR3. All three patients with the crouzonoid phenotype and acanthosis nigricans had the same mutation in exon 10 of FGFR3 (Ala391Glu). This is a distinct disorder, characterized by jugular foraminal stenosis, Chiari I anomaly, and intracranial venous hypertension. Mutations were found in 14 of 19 clinically unclassifiable patients. Three mutations were in exon 9, and one was in the donor splice site of intron 9 on FGFR2. The most common mutation discovered in this group was Pro250Arg in exon 7 of FGFR3. These patients (n = 10) had either bilateral or unilateral coronal synostosis, minimal midfacial hypoplasia with class I or class II occlusion, and minor brachysyndactyly. No mutations in FGFR 1, 2, or 3 were detected in five patients with nonspecific brachycephaly. In conclusion, a molecular diagnosis was possible in all patients (n = 38) given a phenotypic (eponymous) diagnosis. Different phenotypes observed with identical mutations probably resulted from modulation by their genetic background. A molecular diagnosis was made in 74 percent of the 19 unclassified patients in this series; all mutations were in FGFR2 or FGFR3. Our data and those of other investigators suggest that we should begin integrating molecular diagnosis with phenotypic diagnosis of craniosynostoses in studies of natural history and dysmorphology and in analyses of surgical results.

Child↗

Nosology of primary vasculitis.

PURPOSE OF REVIEW: Recent developments in the nosology of primary systemic vasculitis are placed in the context of an historical overview. The ongoing attempts to develop criteria for classification and diagnosis are discussed. RECENT FINDINGS: Giant cell arteritis has supplanted temporal arteritis as the preferred term for chronic granulomatous arteritis in older adults. A new classification system for childhood vasculitis has been proposed by a European collaborative group. A study of idiopathic polyarteritis nodosa demonstrates greater similarity to microscopic polyangiitis in relapse rate than previously reported. Controversy has arisen over the eponym Wegener's granulomatosis because of alleged involvement of Friedrich Wegener in the Nazi regime during World War II. Diagnostic criteria for Kawasaki disease are problematic because many patients with coronary artery involvement do not fulfill current criteria at the time of presentation. Classification of antineutrophil cytoplasm autoantibody-associated small vessel vasculitis based on antineutrophil cytoplasm autoantibody specificity has been complicated by the finding that different ethnic groups may have very different clinical features relative to antigen specificity; for example, most patients with Wegener's granulomatosis in China have myeloperoxidase-antineutrophil cytoplasm autoantibodies rather than proteinase 3-antineutrophil cytoplasm autoantibodies. SUMMARY: Within the past year, new classification systems for primary vasculitis have been proposed, new classification criteria have been developed, and the appropriateness of a longstanding eponym has been challenged.

Arteritis↗