Premature alveolar bone loss in Erdheim-Chester disease Ingrid H. Valdez, DMD,a Ronald W. Katz, DMD,a and William D. Travis, iUD,b Bethesda, Md.

Erdheim-Chester disease is a rare histiocytosis also known as lipoid granulomatosis. Oral findings have not been reported previously to our knowledge. This case report documents evidence of oral sequelae of Erdheim-Chester disease. A patient whose course was followed for 10 years at the National Institutes of Health had premature alveolar bone resorption. He underwent full-mouth extraction at age 29 years because of severe periodontitis. Histopathologic evidence of Erdheim-Chester disease was demonstrated in the periodontal soft tissues. In the ensuing years, accelerated resorption of the residual ridges precluded the use of conventional dentures. We recommend early preventive dental management for patients with Erdheim-Chester disease. (ORAL SURG ORAL MED ORAL PATHOL 1990;70:294-6)

E rdheim-Chester disease (E-C) is a proliferative histiocytosis of unknown cause. It has been reported 27 times in the English-language medical literature but has not been described in the dental literature. This report describes oral findings in a patient with E-C whose course was followed at the National Insti- tutes of Health for 10 years.

The initial symptoms of E-C are variable and often nonspecific such as joint pain, exophthalmos, or symptoms of congestive heart failure. However, one third of the patients are without symptoms and E-C is discovered incidentally. 1

The diagnosis is based on radiographic and histo- logic analyses. The radiographic findings are virtually pathognomonic. 2-5 There is symmetric sclerosis at the diametaphyses of long bones; the epiphyses are gen- erally spared. Medullary sclerosis may obscure the endosteal margin. Of 26 reported cases 23 (88%) ex- hibit these findings.’ A lytic bony component is seen in about one third of the cases.6 The diagnosis of E-C is confirmed histologically by xanthomatous infiltra- tion. Affected bone exhibits thickened trabeculae and bone marrow filled with lipid-laden histiocytes, lym- phocytes, and plasma cells.

Histiocytic proliferation in soft tissues is noted in the majority of patients. The most common sites are

Tlinical Dental Staff Fellows in the Clinical Investigations and Patient Care Branch, National Institute of Dental Research, Na- tional Institutes of Health. bstaff Surgical Pathologist, Laboratory of Pathology, National Cancer Institute, National Institutes of Health. 7/13/13230

294

the retroperitoneum, lung, heart, liver,; kidney, pitu- itary gland, and orbit. ‘3 * Laboratory values have been reported inconsistently in the literature, since they are not critical to diagnosing E-C per se. Of nine cases that included laboratory data, elevated serum lipid levels were reported in three.3v 6* 9

The clinical course of E-C varies considerably, and there is no consensus for treatment. Chemotherapy, radiation, and steroid therapy have been attempted. The prognosis is variable, with one third of the cases being fatal.’ Patients often die of cardiac failure.4* 6, lo

CASE REPORT

Joint pain developed in a healthy white man at age 21 years. A bone biopsy yielded a diagnosis of eosinophilic granuloma. A biopsy of a keloid was done when he was 24 years of age, and it was reported as fibroxanthogranuloma. A diagnosis of Hand-Schtiller-Christian disease was made at age 25 years. The patient was treated unsuccessfully with vinblastine, methotrexate, and prednisone.

The patient was referred to the National Institutes of Health Clinical Center with a provisional diagnosis of E-C at age 27 years. He was in cardiac tamponade when admit- ted. A pericardial window was created; biopsy revealed chronic thickening and eosinophilic infiltration. Radio- graphs of the long bones and mandible revealed patchy medullary lysis and distal sclerosis (Figs. 1 and 2). Soft tis- sue findings included the enlarging keloid, hepatospleno- megaly, narrowing of the ureters, and pleural effusions. The serum cholesterol was slightly elevated while triglyceride levels were normal.

At age 29 years, the patient had a recurrent tamponade and superior vena cava syndrome. Pericardectomy was per- formed and a bypass graft was placed. The patient subse- quently had two episodes of atria1 fibrillation requiring car-

Volume 70 Number 3

Erdheim-Chester disease 295

Fig. 2. Note patchy sclerosis and altered trabecular pat- tern in mandible.

Fig. 1. Tibia of our patient exhibited patchy medullary lysis and distal sclerosis similar to radiographic changes seen in mandible.

dioversion and therapy with quinidine, digoxin, and furo- semide.

The patient was first referred for dental evaluation that year. Previous dental care had been sporadic. Oral exami- nation revealed that the patient had severe periodontitis, gingival recession, multiple teeth missing, and multiple carious teeth (Fig. 3).

Periodontitis necessitated extraction of the 20 remaining teeth from this 29-year-old man. The alveolar bone grossly resembled adipose tissue at the time of surgery. Soft tissue histology exhibited chronic lipid granulomatosis with lipid- laden histiocytes, lymphocytes, and plasma cells (Fig. 4). Alveolar bone fragments revealed fibrosis and chronic inflammatory cells.

There was notable resorption of the alveolar ridges within 6 months. Complete dentures were placed, but the patient used the dentures sparingly, despite relines and adjust- ments.

The patient returned at age 35 years with a complaint of a dysfunctional lower denture. Both residual ridges were severely atrophied. The maxillary ridge was a small band of attached gingiva over basal bone. The upper denture rested directly on the zygomatic processes. There was patchy scle- rosis and altered trabecular pattern in the mandible. Den- tal treatment again consisted of relining the lower denture. Alternatives such as ridge augmentation or implant sur-

Fig. 3. This periapical radiograph illustrates advanced periodontal bone loss and lytic lesions in maxillary alveolus.

gery were contraindicated by the patient’s fragile cardiac status.

The patient is now clinically stable with continued med- ical therapy. At this writing, dental implant surgery is be- ing reconsidered.

DISCUSSION

Rapid or premature alveolar bone resorption should always be viewed with suspicion. It may be associated with blood dyscrasias, such as cyclic neutropenia or leukemia; neutrophil dysfunctions, such as lazy leu- kocyte syndrome or chronic granulomatous disease; or other conditions including the acquired immuno- deficiency syndrome, histiocytosis X, Down syn- drome, diabetes, and Ehlers-Danlos syndrome.

The history of E-C explains its classification. In 1930, Chester” described two patients with a unique histiocytic disorder and called it lipoid granulomato- sis. Jaffe’* reported a similar case in 1972 and named it Erdheim-Chester disease, recognizing Chester and his mentor. The idea of E-C as a discrete nosologic

296 Valdez, Katz, and Travis

Fig. 4. Infiltrate characteristic of E-C demonstrates nu- merous lipid-laden macrophages, intermixed with lympho- cytes, plasma cells, and occasional eosinophils.

entity was challenged in subsequent reports, and to- day it is generally included in the spectrum of histiocytoses.‘, *, 6 13, l4 The histiocytoses are prolif- erative disturbances of the histiocyte (macrophage). 1 5

Of 27 cases reviewed, none describes clinical oral findings. One may speculate on the prevalence of ad- vanced alveolar bone loss in other patients with E-C. In this patient, the xanthomatous infiltrate coupled with years of dental neglect led to premature loss of periodontal support. It is conceivable that rigorous periodontal care may have preserved the alveolar bone and natural dentition. On the basis of this case, we recommend dental intervention early in the course of E-C.

We thank Drs. Robert Delapenha, Philip Fox, Michael Roberts, Jonathan Ship, and Mr. Wayne Randolph for their assistance.

ORAL SIJRG ORAL MED ORAL PATHOL September 1990

REFERENCES

1.

2.

3.

4.

5.

6.

I.

8.

9.

10.

11.

12.

13.

14.

15.

WaiteRJ, Doherty PW, Liepman M, Woda B. Langerhanscell histiocytosis with the radiographic findings of Erdheim-Chester disease. AJR 1988;150:869-71. Brower AC, Worsham GF, Dudley AH. Erdheim-Chester dis- ease: a distinct lipoidosis or part of the spectrum of histiocy- tosis? Radiology 1984;15 1:35-S. Bohne WH, Goldman AB, Bullough P. Case report 96. Skel- etal Radio1 1979;4: 164-7. Resnick D, Greenway G, Genant H, Brower A, Haghighi P, Emmett M. Erdheim-Chester disease. Radiology 1982: 142:289-95. Freyschmidt J, Ostertag H, Lang W. Case report 365. Skel- etal Radio1 1986;15:316-22. Miller RL, Sheeler LR, Bauer TW, Bukowski RM. Erdheim- Chester disease: case report and review of the literature. Am J Med 1986;80:1230-6. Rozenberg I, Wechsler J, Koenig F, et al. Erdheim-Chester disease presenting as malignant exophthalmos. Br J Radio1 1986;59:173-7. Alper MG, Zimmerman LE, La Piana FG. Orbital manifes- tations of Erdheim-Chester disease. Trans Am Ophthalmol Sot 1983;81:64-85. Sorensen EW. Hyperlipaemia: report of an unusual case com- plicated by bone lesions, macrocytic anemia, and leukaemoid bone marrow. Acta Med Stand 1964;175:207-14. Ferrans VJ, Rodriguez ER, McAllister HA. Granulomatous inflammation of the heart. Heart Vessels 1985;Suppl 1:262-70. Chester W. Lipoid granulomatosis. Virchows Arch 1930; 279:561-602. Jaffe HL. Metabolic, degenerative, and inflammatory disease of bone and joints. Philadelphia: Lea & Febiger, 1972:535-42. Evans S, Williams F. Case report: Erdheim-Chester disease: polyostotic sclerosing histiocytosis. Clin Radio1 1986;37:93-6. Mergancova J, Kubes L, Elleder M. A xanthogranulomatous process encircling large blood vessels (Erdheim-Chester dis- ease). Czech Med 1988;l I :57-64. Shafer WG, Hine MK, Levy BM. A textbook of oral pathol- ogy. Philadelphia: WB Saunders Company. 1983:632-7.

Reprinr requests to. Dr. Ingrid H. Valdez National Institute of Dental Research Bldg. 10, Room lN-113 National Institutes of Health Bethesda, MD 20892