Clinical and historical aspects of the Elephant Man: exploring the facts and the myths.

Joseph Merrick, the Elephant Man, presented to the Royal London Hospital in 1884 with an obscure condition that puzzled his contemporaries, and fascinates clinicians to this day. Throughout the 1900s, a number of theories were advanced to explain the numerous growths that covered his body: neurofibromatosis, Proteus syndrome, and a combination of childhood injury, fibrous dysplasia, and pyarthrosis. The debate continued throughout the 20th century without resolution. Today, new consensus on the genetic and clinical diagnosis of neurofibromatosis and Proteus syndrome has allowed advancements in the Elephant Man's diagnosis. Using recent clinical diagnostic criteria it is now possible to conclude that Joseph Merrick was in all likelihood suffering from Proteus syndrome. Nevertheless, details of his genotype remain unknown. Obtaining intact DNA from the Elephant Man's skeleton is challenging, yet it is possible that sequencing Merrick's genome could provide genetic confirmation of his clinical diagnosis, and shed light on the process of tumourigenesis.

Eponyms in cardiothoracic radiology: Part I. Neoplasms.

Eponyms serve the purpose of honoring individuals who have made important observations and discoveries. As with other fields of medicine, eponyms are frequently encountered in radiology, particularly in chest radiology. However, inappropriate use of an eponym may lead to potentially dangerous miscommunication. Moreover, an eponym may honor the incorrect person or a person who falls into disrepute. Despite their limitations, eponyms are still widespread in medical literature. Furthermore, in some circumstances, more than one individual may have contributed to the description or discovery of a particular anatomical structure or disease, whereas in others, an eponym may have been incorrectly applied initially and propagated for years in medical literature. Nevertheless, radiologic eponyms are a means of honoring those who have made lasting contributions to the field of radiology, and familiarity with these eponyms is critical for proper reporting and accurate communication. In addition, the acquisition of some historical knowledge about those whose names are associated with various structures or pathologic conditions conveys a sense of humanity in the field of medicine. In this article, the first of a multipart series, the authors discuss a number of chest radiology eponyms as they relate to neoplasms, including relevant clinical and imaging features, as well biographic information of the respective eponym׳s namesake.

Historical case: "Portrait of a one-eyed man" by Vincent Van Gogh.

The post-impressionist Dutch painter Vincent Willem Van Gogh (1853-1890) painted the "Portrait of a one-eyed man" (1889) when he was admitted to the mental hospital of Saint Paul-de-Mausole. The portrait probably depicts one of Van Gogh's fellow patients who was suffering from a left-sided upper eyelid ptosis. Neurofibromatosis type I with orbitotemporal involvement has been suggested as the underlying disease process. However, from an otorhinolaryngological point of view, alternative diagnoses are possible. In this paper, the entities of giant frontal sinus osteoma and giant frontal sinus mucocoele are discussed, as well as the operative procedures available at the end of the nineteenth century to treat these lesions.

A history of von Recklinghausen's NF1.

While the study of genetic diseases is a rather recent development in science, von Recklinghausen's neurofibromatosis (NF1) has a rich pictorial history, seemingly dating back to the thirteenth century. In 1768, Akenside published a scientifically-based description of NF1, recognizing that the monsters of scholars, such as Parè and Aldrovandi, in fact suffered from a disorder of the nerves. The neuromas of NF1 were first detailed by Smith in 1849, but Frederick von Recklinghausen is credited with its discovery and coined the name of the disorder in 1882. NF1 research widely increased between 1909 and 1990, due to the erroneous diagnosis of the Elephant Man, Joseph Merrick.

Neurofibromatose tipo 1 na infância: revisão dos aspectos clínicos / Neurofibromatosis type 1 in childhood: review of clinical aspects

OBJETIVO: Realizar uma revisão da literatura sobre neurofibromatose tipo 1 (NF1) em crianças e adolescentes, enfatizando as manifestações clínicas. FONTES DE DADOS: Artigos publicados, indexados na base de dados Medline e publicados entre 1998 a 2007, buscados pelos seguintes termos: "neurofibromatosis type 1", "neurofibroma", "von Recklinghausen" e "optic pathway gliomas". SÍNTESE DOS DADOS: A NF1 é uma doença genética autossômica dominante, crônica e progressiva, com incidência de 1/2.000 a 1/7.800 nascidos vivos. Tem sido observada em diferentes partes do mundo, em todas as raças e nos dois sexos. Metade dos casos representa mutações novas. A taxa de mutação para o gene NF1 é de 1/10.000, a qual se deve ao fato do gene ser grande e possuir estrutura interna atípica, que predispõe a deleções e mutações. O diagnóstico presuntivo da NF1 é feito por critérios clínicos. As três principais manifestações - neurofibromas, manchas café-com-leite e nódulos de Lisch - ocorrem em mais de 90 por cento dos pacientes até a puberdade. CONCLUSÕES: Os cuidados com os pacientes com NF1 devem antecipar as principais complicações e oferecer um tratamento precoce. No aconselhamento genético, é importante informar pais e familiares a respeito do panorama geral da doença e suas possíveis complicações, enfatizando que a maioria dos pacientes apresenta vida saudável e produtiva.

OBJECTIVE: To review clinical and diagnostic features of neurofibromatosis type 1 (NF1) in children and adolescents. DATA SOURCES: Articles published from 1998 to 2007 and retrieved by the words "neurofibromatosis type 1"; "neurofibroma", "von Recklinghausen" and "optic pathway gliomas" in Medline database. DATA SYNTHESIS: NF1 is a chronic and progressive autosomal dominant disorder with an incidence of 1/2,000 to 1/7,800 live births. There is no racial, geographic or gender preference. Half of the cases represent new mutations, and the mutation rate for NF1 gene is 1/10.000. The high mutation rate of NF1 may reflect the fact that the gene is large and/or that it has an unusual internal structure, predisposing it to deletions and other mutations. The presuntive diagnosis of NF1 is made on clinical basis. The three main features - neurofibromas, café-au-lait spots and Lisch nodules - are present in more than 90 percent of all affected patients until puberty. CONCLUSIONS: The mainstay of care for patients with NF1 is anticipatory guidance and early detection and treatment of disease complications. Counseling of patients and their families should provide a realistic overview of possible clinical complications, while emphasizing that most individuals with NF1 have healthy and productive lives.

Warts and the kings of Parthia: an ancient representation of hereditary Neurofibromatosis depicted in coins.

Parthian coins depict a nodule on the face of many of their kings over succeeding generations. Loosely described as a wart in the literature, the nature of these lesions has been the subject of speculation. The accepted view is that they were unlikely to be simply a cosmetic or symbolic feature. Evidence suggests that they may represent the cutaneous tumors of Neurofibromatosis. The hereditary nature and physical appearance of these round nodules are consistent with this diagnosis. Although final proof may be lacking, these prominent facial features are worthy of discussion even though the matter may not be settled with certainty.

Dermatitis de contacto por calzado unilateral / Unilateral contact dermatitis caused by footwear

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Neurofibromatosis type 1.

Neurofibromatosis (NF) has perhaps been the most notorious of the neurocutaneous disorders. Both Quasimoto of Victor Hugo's The Hunchback of Notre Dame and John Merrick, known as the Elephant Man (who subsequently has been more properly classified as having Proteus syndrome, a quite different disorder), are 2 infamous examples that have shaped many popular misconceptions about this disease. Neurofibromatosis is now understood as a hamartomatous disorder on the basis of molecular genetic studies. Studies on NF have been pivotal to understanding the functions of oncogenes in tumorigenesis.

The early history of the neurofibromatosis. Evolution of the concept of neurofibromatosis type 2.

Although neurofibromatosis (NF) became widely recognized as a pathologic entity in the late 19th century, only relatively recently has a clear distinction been made between its generalized form and the central variety. The latter form is typified by bilateral acoustic neuromas (ANs), which may be accompanied by other intracranial tumors, in particular, meningiomas. Up until almost the current era, confusion regarding the protean manifestations of the 2 types of NF existed in the minds of clinicians and in the literature. In 1987, a consensus panel of the National Institutes of Health differentiated the clinical manifestations associated with classic von Recklinghausen syndrome from those of the predominantly intracranial subtype and they were subsequently deemed NF type 1 (NF-1) and NF type 2 (NF-2), respectively. During the last few years, the genetic flaws that underlie these 2 syndromes have been elucidated, revealing that their origins lie in defects on separate chromosomes. The early literature on the subject included repeated descriptions of patients with manifestations typical of NF-2. The investigators, however, considered the intracranial lesions to be merely 1 facet of the generalized form of the disease. A few prescient individuals, however, demonstrated an appreciation for the distinguishing characteristics between these superficially similar, yet quite different, syndromes. The goals of this article are to trace the evolution of the concept of NF-2 as a distinct clinical entity from NF-1 and to assess the early awareness of and attitudes toward bilateral ANs, familial ANs, and ANs associated with other intracranial tumors.