Rediagnosing one of Smith's patients (John McCann) with "neuromas tumours" (1849).

In 1849, the Irish Professor of Surgery, Sir Robert William Smith, by publishing his "Treatise on the Pathology, Diagnosis and Treatment of Neuroma", collected six previous examples of "general development of neuromatous tumours" and reported three further cases (two personal and one referred) of what is nowadays known as neurofibromatosis. Among these latter cases, there was a 35-year-old cattle-driver, John McCann, who was first admitted at hospital in 1840 because of a large tumour on the right side of his neck thought to be malignant (and a second tumour sublingually) but not operated. McCann was readmitted in 1843 ("in an emaciated state"), because of an immense tumour in his thigh dying few months later "with hepatic symptoms". Smith's post-mortem examination revealed dozens of smaller additional tumours. Based on application of modern diagnostic criteria (to McCann's portrait at second referral) and on pathological grounds (reconsideration of the histopathological report of McCann's neuroma of the thigh), we tentatively hypothesise that this patient could be the earliest (illustrated) example of either: (1) a malignant peripheral nerve sheath tumour (MPNST); (2) neurofibromatosis type 2 (NF2); or (3) schwannomatosis (SWNTS). The progressively enlarging masses, the emaciated state and the later death are in favour of a MPNST (against is the lack of malignant appearance at histopathology); the clinical (and gross pathological) appearance of the tumours as large, rounded, encapsulated, eccentric lesions deflecting the parent nerve over the surface of the tumour is typical of schwannomas (thus, in favour of NF2 or SWTNS). Whatever diagnosis we could consider these tumours could be secondary to a (local) mosaic loss of heterozygosity and ultimately represent type 2 segmental manifestations superimposed on an ordinary autosomal dominant trait (i.e., NF1, NF2 or SWTNS).

[Filippo Civinini (1805-1844) and the discovery of plantar neuroma]. / Filippo Civinini (1805-1844) e la scoperta del neurinoma plantare.

Pathological abnormality (neuroma) related to the painful foot condition commonly called "Morton's metatarsalgia" was first observed in 1835 by Filippo Civinini (1805-1844) of Pistoia, in course of a cadaverous dissection, and clearly described in the anatomic letter entitled "Su un nervoso gangliare rigonfiamento alla pianta del piede" ("On the neural ganglion swelling of the foot sole"). In this study a brief review on the history of Morton's metatarsalgia is carried out, and the importance of Civinini in the discovery of the neuroma of the III intermetatarsal web is underlined.

Accurate nomenclature for forefoot nerve entrapment: a historical perspective.

Current medical nomenclature is often based on the early history of the condition, when the true etiology of the disease or condition was not known. Sadly, this incorrect terminology can become inextricably woven into the lexicon of mainstream medicine. More important, when this is the case, the terminology itself can become integrated into current clinical decision making and ultimately into surgical intervention for the condition. "Morton's neuroma" is perhaps the most striking example of this nomenclature problem in foot and ankle surgery. We aimed to delineate the historical impetus for the terminology still being used today for this condition and to suggest appropriate terminology based on our current understanding of its pathogenesis. We concluded that this symptom complex should be given the diagnosis of nerve compression and be further distinguished by naming the involved nerve, such as compression of the interdigital nerve to the third web space or compression of the third common plantar digital nerve. Although the nomenclature becomes longer, the pathogenesis is correct, and treatment decisions can be made accordingly.

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.