The first recorded case of fibrosa cystica

W. WATSON BUCHANAN, MD; GUNNAR R. KRAAG, MD; DAVID G. PALMER, MD; W. PETER COCKSHOTT, MD

months. In November 1768 he hurt his right thigh, and was confined to bed for a week, and was afterwards unable to walk without assistance. In December of the same year, while being helped up stairs, he struck the toe of his right foot on the edge of the step, and instantly cried out that his thigh was broken. He was confined to bed with great , and the leg was shortened and crooked. A fracture of the femur was diagnosed, and splints were applied. The pain continued, *but slightly less violent than before. On removing the splints, five weeks later, and moving the leg, the sur- geon "was surprised to find the thigh- yield, and fall in about a hand's-breadth above the knee", as if there were a fracture, but with- out any crepitus. The leg bent and broke the same way; and, on ex- amining the tibia, he found a re- The patient, James Stevenson, showing gross hone deformities, especially markable softness and yielding of in the lower Iimhs. the bone, as if it contained fluid. The fractures were attended with In an extensive pathological collec- physicians in London, of which Wil- very little additional pain. An in- tion in the Royal Infirmary at the liam Hunter, the owner of the Uni- cision was made over the tibia, and University of Glasgow, there are a versity of Glasgow museum, was a the bone was found to be pliant and large number of bone and joint spe- leading member, and was published yielding, being "only about the cimens of considerable interest1. in Medical Observations and En- solidity and thickness of the rind of One of these, identified as a case quiries, which William Hunter prob- cheese." The medullary cavity was of severe osteomalacia, is perhaps ably edited, under the title of "A filled with a "dusky red or liver- the first recorded case of osteitis fib- remarkable case of the softness of coloured flesh, devoid of sensibility, rosa cystica. It is also of interest that the , by Mr. Henry Thomson, and from which the osseous cover- a roentgenogram of the humerus Surgeon to the London Hospital". ing had been removed without the in this case demonstrates chondro- It is of interest that Major records least haemorrhage; in short, it ap- calcinosis, a known complication of the same patient as a case of osteo- peared to me an unorganized mass, '. malacia in his "Classic Descriptions similar to the flesh-like substance The case history relating to these of Disease in 1932".. or coagulum which may be formed bones was presented by Thomas The case history is described as on a stick or feather by stirring Dickson, MD, FRS, to a society of follows: "James Stevenson, a shoe- fresh-drawn blood in a basin." The maker in Wapping, aged 33, five left leg and thigh lost their straight- feet seven inches high, enjoyed a ness in the same way; and as the de- The authors are professors in the good state of health till about the formity increased, he lost all power departments of medicine and year 1766, when he was seized with of motion. Throughout he continued rheumatology, McMaster University violent in his knees and feet, to suffer pain in the bones, which Health Sciences Centre and was tormented with a headache, was greatly increased when he was Reprint requests to: Dr. W. Watson which came on at irregular periods." moved. His appetite remained good. Buchanan, professor of medicine, These pains were supposed to be "His urine for the first two years department of medicine, section of rheumatology, McMaster University rheumatic. Shortly afterwards he in- generally deposited a whitish sedi- Health Sciences Centre, 1200 Main jured his shoulder by a fall, and ment, which, upon evaporation, be- St. W., Hamilton, Ont., L8N 3Z5 was unable to move it for several came like mortar." He grew gradu-

812 CMA JOURNAL/MARCH 15, 1981/VOL. 124 ally weaker, and died on the Feb. thyroid tumour was first recorded 18, 1775. in 1904 by Askanazy", and it was On sectio, by Mr. Thomson as- only two years later that the in- sisted by Dr. Hunter, every bone in terrelationships between the para- the body was found to have lost its thyroid glands and me- hardness, being easily cut with a tabolism were discovered'2. In 1915 scalpel. The internal organs all ap- Schlagenhaufer" maintained that peared healthy. The articular car- parathyroid hyperplasia, far from tilages preserved their normal being secondary to , colour and smoothness. The mus- might well be primary. It was not cles, especially in the lower ex- until 1925 that a parathyroid tu- tremities, were exceedingly pale, mour was removed from a patient "and it would scarcely have been with '4. Thus, possible to have traced them by the history of primary hyperpara- dissection, from their contortion and thyroidism and osteitis fibrosa cys- adhesion to each other." tica is relatively recent. In the old catalogue held in the We have been unable to find any Department of the History of Sci- reference to the disease in any ence in the University the specimen palaeopathological text'."". This is was described further as follows: perhaps not surprising since at the "The cavity of the bone is much time of death the bones would have enlarged, and was full of oil mixed dissolved almost to nothing, and with blood; no appearance of can- would therefore not be preserved. cellae, but cross-bridges or septa However, two very typical cases of here and there. The two extremities polyostotic fibrous dysplasia have are less altered than the other parts; been reported in archaeological ma- the cortical part thin as paper and terial: one from early Saxon times as soft as bees-wax almost." around 650 AD'7, and the other Friedrich Daniel von Reckling- in a prehistoric American Indian hausen" (1833-1910) is usually cre around 1000 AD'8. dited with the first description of The clinical history and the osteitis fibrosa cystica in 1 89 1. pathological and radiological find- However, it is of interest that von ings of the patient described in this Recklinghausen referred to an ear- paper are entirely consistent with a lier description of a case by Gerhard diagnosis of primary hyperparathy- Engel in 864.. Fuller Albright", in roidism. The patient had apparently a review of the history of primary kept good health until his present hyperparathyroidism, accepted only illness and was of average height, one of the three patients described which rules out both by von Recklinghausen as a true and renal . case of osteitis fibrosa cystica, the A not insignificant percentage of other two having, in Albright's opi- patients with primary hyperpara- ilion, polyostotic fibrous dysplasia thyroidism present with arthralgia as both exhibited a feature of this or arthritis,'9'20 and in view of the disease, namely marked protruber- finding of chondrocalcinosis in the ances in the occipital region. left elbow joint, it might be specu- Von Recklinghausen did not lated whether the patient's joint suspect the relationship of the dis- pains may have been due to an at- ease to the parathyroid glands, tack of pseudogout affecting sev- which had only been defined as an- eral joints. Headaches are not un- atomical entities just over a decade common in primary hyperparathy- before von Recklinghausen's paper. roidism, as is muscular weakness20. It is, however, of interest that Jung The history of and recur- in 1933 when reviewing the original rent pathological fractures, con- autopsy report of von Reckling- firmed by the surgeon's finding of hausen's patient a[the Pathological extreme , is entirely Institute of Strasbourg, noted that consistent with the diagnosis. In von Recklingausen had recorded addition, the finding of the "dusky- that "above the left thyroid gland, red or liver-coloured flesh-like a lymph gland, red-brown in colour substance" in the marrow cavity is present." The association between is very suggestive of the 'brown- osteitis fibrosa cystica and a para- cysts' of osteitis fibrosa cystica. The whitish urinary deposit "which upon focal not generalised bone dis- decreased, although the limb pains evaporation, became like mortar" ease. Furthermore, chondrocal- continued. However, two years after was probably calcium phosphate, cinosis does not occur in osteoma- the onset of the illness the patient due to hypercalcuria and phospha- lacia or hydatid bone disease. "had such a Weakness and Pain in tuna. This patient consequently is prob- her limbs as to confine her to Bed The postmortem finding of ex- ably the first authenticated case of altogether. and in a few Months treme pallor and atrophy of skeletal osteitis fibrosa cystica due to afterwards the Bones in her Legs muscles is entirely consistent with primary hyperparathyroidism. The and Arms felt somewhat soft to the a diagnosis of primary hyperpara- patient antedates von Recklinghau- Touch, and were so pliable, as to thyroidism", although the same sen's description by over a century. be bent into a Curve; nay, for sev- changes have been also reported in However, it is of interest that Dr. eral Months before her Death, they severe osteomalacia." Thomas Cadwalader of Philadelphia were as limber as a Rag, and would The museum specimens of bone in his book published in 1745, "An bend any way with less Difficulty are compatible with osteitis fibrosa Essay on the West-India Dry- than the muscular Parts of a healthy cystica: indeed, it is difficult to con- Gripes; with the Method of Pre- Person's Leg, without the Interposi- sider any other entity beyond hyper- venting and Curing that Cruel Dis- tion of the Bone". The patient died parathyroidism with osteitis fibrosa temper., described "an Extraor- two years later and in what is be- cystica in the x-rays of the two dinary Case in Physick" which may lieved to be the first scientific autop- humeri. Osteomalacia as a cause of have been a case of primary hyper- sy conducted in the United States25, soft bones of such severity would parathyroidism. The patient, a Cadwalader reported his findings as show evidence of lucent transverse previously healthy 36-year-old follows: "Upon raising the Cutis, 1 looser zones due to the presence of mother of two chihjren, suddenly found the Membrana Adiposa much unmineralised osteoid - the hall- developed polyuria, , thicker than I expected in a Person mark of osteomalacia. Multiple hectic fever, thirst, pains in her so much emaciated; the Sternum cysts in the diaphysis can be en- shoulders, back and limbs, and an- and Ribs, with their Cartilages, very countered exceptionally in hydatid orexia. These symptoms persisted soft; and all the cartilaginous Pro- bone parasitism23, but this causes for two years and then gradually ductions of the Ribs on the Left-

X-rays of patient's left humerus and the right humerus probably of the same patient. Chondrocalcinosis is clearly evident in the 'wet' specimen of the humerus at the capitellum and trochlea (arrowed). Specimen of left humerus. side doubled over one another, However, it is impossible to be cer- Chirurgie 42: 200. 1933. cited by tain without pathological or radio- THANNHAUSER Si: Neurofibromato- about an Inch long, in this Form Z, sis (von Recklinghausen) and osteitis but flatter. Upon raising the Ster- logical material. Thus, the claim fibrosa cystica localisata et disse- num, I found the Lungs adhering that the patient described in this minata (von Recklinghausen): a very close to the Pleura on each paper was the first confirmed case study of the common pathogenesis Side, but more loose and flaccid. of primary hyperparathyroidism of both diseases. Differentiation be- and much less in Size than usual. with osteitis fibrosa cystica re- tween "hyperparathyroidism with generalized decalcification and fibro- Her Heart was of the common Big- mains. U cystic changes of the skeleton and ness, and upon viewing her Liver, I osteitis fibrosa cystica disseminata". found it at least a third Part bigger The authors wish to thank Mr. Medicitic 23: 105-149 than ordinary. Her Spleen was about Donald Hay, curator of the Pathol- I I. ASKANA7Y M: Ueber Ostitis defor- an Inch and a Half in the longest ogy Museum, Royal Infirmary, and mans ohne ostoides Gewebe. Arh Part, and about a Quarter of an of the patli-ana.' lust Tiibingen. 1 904: 4: Dr. C. Helen Brock, PhD, 398-422 Inch thick, and the Intestines were Department of the History of 12. ERDHEIM I: Tetania parathyreopriva very much inflated. Science, The University, Glasgow, Mitt Grenzgeb. Med Cliir 1906: 16: "She had Appearances of several Scotland for in valuable assistance 632 Anchyloses formed in the small in preparing this manuscript. The 13. SCHIAGENHAUFER F: Zwei Fillie von Joynts, viz. Carpal and Metacarpal by Parathyreoideatumoren. Wien K/i,, work was financially supported Wc/unschr 1915: 28: 1362 Bones, &c. which had been without the A rthritis Society of Canada. 14. MANDL F: Klinisches und Experi- Motion for several Months; but mentelles zur Frage der lokalisierten upon laying them open, I found References und general isierten Ostitis Fibrosa they were only like a thin Shell. (unter besonderer Berucksichtigung The cartilaginous Epiphyses of the 1. PALMER DG, MARSHALL AJ and der Therapie der letzteren). An/i BUCHANAN WW: Eighteenth century K/in Chir 1926: 143: 1-46 Bones were entirely dissolved, and bone and joint disease: William 15. BROTHWELL D. SANDISON AT: Dis- no Part of the Heads remaining, but Hunter's collection, Pathology De- eases, injuries and Surgery of Early an Outside, not thicker than an partment. Royal Infirmary, Glasgow. Populalians. CC Thomas, Spring- Egg-shell. Upon making Incisions Rheumatology 7: 113, 1977. field, 1967 in her Legs and Arms of five or six 2. HAMILTON EBD: Diseases associated 16. STEINBOCK RT: Paleopathological with CPPD deposition diseases. diagnosis and interpretation: Bone Inches long, I found the outer Arthritis Rheum 1976; 19: 353-357 diseases in ancient human popula- Lamine of the Bones soft, and per- 3. DICKSON T: A remarkable case of tions. CC Thomas. Springfield. 1976: fectly membranous, about the the softness of the bones, by Mr. 338 Thickness of the Peritoneum; and Henry Thomson, Surgeon to thc 17. WELLS C: Polyostotic fibrous dys- containing (instead of a boney Sub- London Hospital. Medical Obseria- plasia in a 7th century Anglo-Saxon. stance) a Fluid of the Consistence tions and inquiries 1776; 5: 259-269 Br J Radiol 1963; 36: 925-926 4. THOMAS H: A remarkable case of 18. DENNINGER HS: Osteitis fibrosa in a of Honey when thick, and of a red- the softness of the bones, by Mr. skeleton of a prehistoric American dish Colour, but not at all disagree- Henry Thomas Surgeon to the Lon- Indian. Arc/i Pal/i 1931; II: 939- able to the Smell. There was, how- don Hospital. Communicated by 947 ever, an Appearance of Bones near Thomas Dickson. In MAJOR RH: 19. ZVAIFLER NJ, REEFE WE. BLACK the Joynts of her Legs and Arms, Classic Descriptions of Disease wit/i RL: Articular manifestations in pri- Biographical Sketches of the A a- mary hyperparathyroidism. A riliritis tho' in part dissolved; but what re- thors. Bail1i.re, Tindall and Cox. Rheuni 1962: 5: 237-249 mained was very soft, and full of London, 1932: 264-266 20. BY WATERS EGL. DIXON AJ. SCOTT large Holes, like a Honey-comb. 5. MARSHALL AJ, BURTON JAG: ITs iT: Joint lesions of hyperpara- The Bones of the Head yielded Catalogue of the Pathological Pie- thyroidism. A,i,i Rheum Dis 1963: easily to the Pressure of my Finger. parations of Williwn Hunter, Wil- 22: 171-187 It may seem surprising that those liam Maceit'cn, Johii H. Teacher, 21. PYRAH LN, HODGKINSON A. ANDER- and J.A.G. Burton, University of SON CK: Primary hyperparathyroid- Parts of the Bones, which are the Glasgow, 1962: 43 ism. Br I Surg 1966; 53: 245-3 16 most compact and hard, should be 6. VON RECKLINGHAUSLN FD: Die 22. SCHOTI GD. WILLS MR: Muscle dissolved, while their Heads, which Fibrose oder Deform rende Ostitis, weakness in osteomalacia. Lauicel are more spongy and soft, had not die Osteomalacie und die Osteoplas- 1976; 1: 626-629 altogether lost their Substance - tische Carcinose in ihren gegenseiti- 23. COCKSHOTT WP. MIDDLEMIsS JH: She was; when in Health, five Foot ger Beziehungen. In Festschrift fur Clinical Radiology iii i/ic Tropics. high, as 1 was informed by her Hus- Rudolf Virchow, Berlin, 1881 Churchill. Edinburgh. 1979; 66-7 7. ENGEL G: Ucber einen Fall iou 24. CADWALADER 1': An essay on the band; but having measured her after c)'stoider Entartung des gatizen Ske- Method of Preventing and Curing Death, she was no more than three lettes, FC Pietsch, Giessen, 1864 that Cruel Distemper to which is Foot seven Inches in Length, tho' 8. ALBRIGHT F: A page out of the his- added, an extraordinary case in all her Limbs were stretched out tory of hyperparathyroidism. Cliii Physick. B. Franklin. Philadelphia, strait." Endocrinol 1948; 8: 637-657 1745 This patient, therefore, would 9. SANDSTR6M 1V: Om en ny kortel 25. FELTON IS: Man *iedicine. and hos menniskan och &tskilliga dagg- work in America. an historical also appear to have suffered from djur. Upsala Liikaref. Fiirh 1880; series. IV. Thomas Cadwalader, primary hyperparathyroidism, al- 15: 441-471 M.D. physician. Philadelphian and though it is difficult to explain the 10. JUNG E: Etude clinique de l'hyper- philantropist. I Occup Med 1969: fever on the basis of this diagnosis. thyroidisme. Congr.s Fran.ais de 11: 374-380

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