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Riegert-Johnson DL, Boardman LA, Hefferon T, et al., editors. Cancer Syndromes [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 2009-.

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Cancer Syndromes [Internet].

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Appendix: The first reported case of familial atypical multiple melanoma mole syndrome

, M.D.
Stourbridge

Originally published as: Case of Fungoid Disease. Edinburgh Medical and Surgical Journal. 1820; 16: 562-565.

February 6, 1817—Mr——, aged 59, apparently in good health, applied to me in consequence of the inconvenience he felt from a tumour, situated nearly mid-way between the umbilicus and pubes. He told me there had always been a mole exactly in the same spot, and that, nine months ago, the skin around this congenital mark assumed a brownish hue, and that from the part thus discoloured a tumour began to arise. On examination, I found the swelling was nearly of half the size of a hen’s egg, of a deep brown colour, of a firm and fleshy feel, ulcerated on its surface, which discharged a highly fetid ichorous fluid. The apex of the tumour was broader than its base. Some few months after the appearance of this tumour, distinct nodules sprung up around it, some with slender necks, others with broader bases. This singular production was at length removed by the knife, and the wound went on favourably, and healed. In less than six weeks the tumour again began to grow from the cicatrized surface, and felt hard and semi-cartilaginous, and very soon minute tubercles, of a livid colour, surrounded the tumour; some of them separated from, and others growing into, each other. Of the latter sort there were at least forty in number, forming a mass of disease extending nearly from the spine of one os ilium to the other, and bearing a resemblance to a large bunch of dark-coloured grapes, some of them flattened on the surface, and of various sizes. The prominent scirrhous-looking tumour occupied the centre ; the tubercles already formed progressively increased, while fresh ones arose in their vicinity. The glands in the groin were swollen, and slightly tender to the touch.

This disorganization of parts was effected in two months, and continued to increase after that period. Yet the general health of the patient was not so much impaired as to prevent the regular use of exercise, nor did it interfere with the pursuits of business. Lancinating pains occasionally affected the diseased parts, and an early and continued symptom was an excruciating pain complained of near the right kidney. The urine at times resembled porter, and deposited a lateritious sediment. At length the constitution began to suffer more severely. Nausea and loss of appetite gradually came on, accompanied by restlessness and excessive depression of spirits. Bluish spots arose in the vicinity of a mole upon the sternum ; others appeared in succession on the sides of the body, and on the back ; and very soon the forehead and scalp were disfigured with the same morbid appearances. The whole body seemed to participate in this disease of structure, and to preclude all idea of relief from any surgical operation, and to leave no resource beyond palliative treatment. With reluctance, therefore, I felt compelled to leave him to his fate. Gradually increasing dyspnoea came on along with a cough daily augmenting in severity.

The animal frame became perceptibly impaired, and the patient very soon unable to leave his bed-room. All that art could do was, if possible, to alleviate his sufferings, which were excessive ; but the relief that could be given was only partial. Mr Hodgson, of Birmingham, at my request, saw the patient, who was advised to take large and repeated doses of extract of hyoscyamus and poppy, which diminished the distressing cough and dyspnoea. He loathed animal food, as well as fermented and spirituous liquors, which only added to his feverish heat and restlessness. He frequently complained of heat, though the temperature of the skin was not higher than natural ; ant though his feet felt to my hand perfectly chilled, and his pulse scarcely perceptible, still he was incessantly requesting to be fanned. In this miserable state the half-sitting and halt-recumbent posture was the least irksome to him. Symptoms of general dropsy had for some weeks shewn themselves, and these were soon followed by an increase of restlessness, cough, and difficulty of breathing, until death closed his miserable existence.

Appearances after Death

On making an incision through the original tumour, I found the texture to be heterogeneous ; it was of a reddish and whitish brown tint throughout, not very unlike the internal structure of a nutmeg. The newly formed tumour, and the tubera around, though during life they wore a very different aspect, after death both exhibited the same dark-coloured appearance. On puncturing a considerable number of the different tubercles, a thick dark fluid was discharged from them.

Having described the external appearances of the disease, as they successively arose on the surface of the abdomen, chest, sides, back, and head, I will now describe the morbid phenomena within. On making an incision from the upper extremity of the sternum, and exposing the ribs, a small tubercle was found near the angle of one of them. By a division of this morbid growth, it was evident that the disease was not confined to the periostenm, but had extended to the very substance of the bone. On continuing the incision towards the umbilicus, numerous distinct spots were found dispersed through the cellular substance. On opening the abdomen I found numerous tubera of various sizes. To the eye of the morbid anatomist it was interesting to behold the tumours scattered in the utmost profusion in every direction. Upon the transverse arch of the colon, the omentum, mesentery, stomach, and the large and small intestines, on the first of which the spots were exceedingly numerous. In dissecting downwards to the vertebrae, I met with a mass of diseased structure, which proved to be the mesenteric glands, in a shockingly morbid condition, from which, when divided, a fluid escaped, in colour and consistence something like tar. The pancreas was diseased in a similar manner, as well as the liver, which latter was so changed in colour, (being of a dark brown,) and so altered in its structure, as scarcely to be recognised. Its surface especially was studded with large oval masses of the disease, and its substance throughout was soft and pulpy. Slight tumours of the same nature were manifest in the organization of the kidneys. The spleen and bladder were the only organs exempt from the influence of disease in the abdominal cavity. On examining the chest, a still more extraordinary appearance was observed. The lungs were on both sides thickly mottled in large and smaller masses throughout the greater part of their texture. The same mottled appearance was still more vividly displayed on the heart, and the specks were minute, more numerous, and distinct; the heart was almost literally encrusted with them, both externally and internally, and the tubera were from the size of a pin’s head to that of a pea. The arteries and veins were not involved in the disease. There was about a quart of fluid in the abdomen ; nearly a pint in each bag of the pleura ; and perhaps two ounces in the pericardium. On dividing the scalp, many of the same diseased appearances were observed both on the skull cap and on the fascia covering the temporal muscles. The dura mater was also studded with them, though much less numerously than the mucous and serous membranes. The ventricles of the brain were nearly filled with fluid. The brain itself was apparently healthy, and with the exception of one speck on the leg, the extremities were free from the disease. It is remarkable that this gentleman’s father, about thirty years ago, died of a similar disease. A surgeon of this town attended him, and he informed me that a number of small tumours appeared between the shoulders, which were severely cauterized, soon after which death took place. This tumour, I have remarked, originated in a mole, and it will be worth mentioning, that not only my patient and his children had many moles on various parts of their bodies, but also his own father and brothers had many of them. The youngest son has one of these marks exactly in the same place where the disease in his father first manifested itself. These facts, together with a case that has come under my notice, rather similar, would incline me to believe that this disease is hereditary.

Among the many cases on record of this dreadful disease, I am aware of no one wherein its ravages have been so extensive ; nor am I acquainted with any case affording so strong a probability of the hereditary nature of the disease. These circumstances appear to me to add greatly to the interest of this case, and to justify the desire I feel that it should be laid before the public.

Copyright © 2009-, Douglas L Riegert-Johnson.
Bookshelf ID: NBK7025

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