Good

Morning
 Gorham’s Disease Of The Mandible
Mimicking Periodontal Disease On
Radiograph
Mignogna MD, Fedele S, Lo Russo L,
Lanza A, Marenzi G, Sammartino G.
University ‘‘Federico II’’, Naples, Italy

J Clin Periodontol 2005; 32: 1022–1026

• Other possible causes of alveolar osteolysis
mimicking periodontal disease on radiograph –
– Inflammatory disease (e.g. osteomyelitis)
– Endocrine disease (e.g. hyperparathyroidism)
– Intra-osseous malignancies (To et al. 1991) or Metastases
(Ogutcen- Toller et al. 2002), Lymphoma (Nittayananta
et al. 1998), Histiocytosis X, mainly Eosinophilic
granuloma (Artzi et al. 1989, Nicopoulou-Karayianni et
al. 1989, Unlu et al. 1997)
– Infective process (e.g. tuberculosis and actinomycosis)
(Nagler et al. 2000)
– Odontogenic tumours (Haghighat et al. 2002).
 Gorham’s Disease
• Vanishing bone disease (VBD) is a rare condition of
unknown aetiology. It was first described in 1838 by
Jackson in an 18-year-old male whose humerus slowly and
completely resorbed following a fracture.
• Gorham’s disease has had several names:
– Vanishing bone disease
– Massive, Spontaneous,or Progressive osteolysis, acute essential
bone resorption
– Disappearing, phantom bone disease
• Any bone can be affected, although there is a
predilection for the pelvis, humeral head, humeral
shaft, axial skeleton, and mandible
• 150 cases reported and 40 cases in maxillofacial
bones…...
• No genetic basis
• No sex or racial prelidiction
• No associated metabolic, endocrine or neurologic
disturbance
• Monostotic or polyostotic
 Onset and Progression
• Gorham disease was often misdiagnosed in the maxillofacial
region because of its rarity and bizarre clinical picture
• Clinically, the course of the disease appears to be divided into
2 stages.
• The first stage is an active phase of bone resorption and lysis,
accompanied by mild pain and soft tissue swelling with
varying degree of erythema and radiographic bone resorption.
Once lysis of the involved bone is completed, the disease
remains quiescent.
• The second stage is generally a dormant phase. The
succession of these stages is unpredictable, with each lasting
from a few months to many years. The adjacent muscle may
lose their support and undergo atrophy, which exaggerates the
deformity
Clinical And Radiographic Features
• Onset is insidious
• No pain present until pathological fracture
• Progresses rapidly
• Presence of one or more subcortical or intramedullary
radiolucent foci of varying size with indistinct
margins but occasionally with thin radiopaque
borders.
• These foci were found to enlarge, coalesce and
eventually involve the cortex
• Elevated levels of IL – 6
• Coalescence of scattered radiolucency over time,
porosis of trabecular structure, disappearance of
lamina dura, and atrophy of bony contour are
characteristic radiographic features in Gorham
disease
 Histological Features
• Replacement of bone by Increased number of thin-walled,
endothelium-lined capillaries or sinusoidal channels of
vascular or lymphatic origin engorged capillaries
• Vessels had poor endothelial integrity wide spaces present at
junctional sites
• Gap junctions were few in no. and endothelial basement
membrane was thin
• Demineralized and absorbed bony trabecula without
osteoclasts – hyalinized or scar like tissue
• Certain degree of fibrous tissue
• Osteoclast activity is not a feature
• Normal blood chemistry
• Inflammatory change is also uncommon
 Hafeez Criteria – 1983
1. A positive biopsy
2. The absence of cellular atypia
3. Minimal or no osteoblastic response and absence of
dystrophic calcification
4. Evidence of local, progressive osseous resorption
5. Nonexpansile, nonulcerative lesion
6. Absence of visceral involvement
7. Osteolytic radiographic pattern
8. Negative hereditary, metabolic, neoplastic,
immunologic, or infectious aetiology
 Case Report Proper
• 24-year-old female was referred to Oral Medicine
Division complaining of mild pain over the left side
of the mandible
• 1 year earlier she was diagnosed to be affected by
periodontal disease and treated accordingly with non-
surgical periodontal therapy and teeth splinting
• Subsequent orthopantomograms showed a
progressive worsening of alveolar bone loss
• Intra-oral clinical examination showed absence
of gingivitis, and a slight mobility of the left
mandibular teeth, from the first molar to
central incisors, although from the left pre-
molar zone to the right canine region the teeth
were splinted
• No loss of attachment and periodontal pockets
• Vitality – All teeth were vital
• Extraoral palpation demonstrated a
longitudinal parasymphyseal depression of the
lower margin of the left hemi-mandible
• Evaluation of current and previous
orthopantomograms led to the presence of a
progressive osteolytic process which was initially
localized to a small region of the alveolar bone of the
mandible (pre-molar and incisive areas), then
extended to the surrounding bone involving almost all
the left mandibular teeth over about 1 year
• The radiographic picture was very similar to that of
periodontal disease, with earlier orthpantomograms
showing infrabony defects and horizontal bone loss
 March 2002

March 2003
 July 2003

September
2003
 November
2003

January
2004
• Biopsy of the alveolar osteolytic region was
performed, and 99mTc scintigraphy, radiographic
skeletal survey, and laboratory investigations were
performed
• Thyroid and parathyroid hormones, calcitonin, red
blood cell examination, white blood cell count and
differential, platelet count, erythrocyte sedimentation
rate, levels of serum electrolytes, creatinine, alkaline
phosphatase, urine analysis, and tumour markers
• Calcium levels were found to be slightly higher than
normal
• 99mTc scintigraphy showed increased uptake in the left
hemi-mandible, without evidence of other skeletal
lesions
• During this extensive workup, a new OPG showed a
rapidly progressive course of the disease, with an
extension of the osteolytic process and severe
mandibular bone resorption, which involved all the
teeth and the lower margin of the left hemimandible
which appeared extremely tapered in the
pre-molar/canine region.
• An initial involvement of the symphysis as well as
the lower margin of the right parasymphyseal region
was also evident
• Accordingly, the involved teeth were extracted and
additional specimens of the remaining fibrous tissue
were submitted for histopathological evaluation
• To evaluate the extension of the resorptive process, an axial
computed tomography (CT) scan of the mandible together
with a three-dimensional CT scan was required
• Microscopically, the analysis of the specimens removed
from the osteolytic defect consisted of a non-specific fibrous
tissue containing lymphocytes and plasma cells together
with vascular proliferation.
• CT examination revealed an almost complete loss of the
whole alveolar bone of the left hemi-mandible, with a full-
height bone resorption in the parasymphyseal region, where
a pathological fracture was evident. The distal fragment
(segment) appeared to be dislocated upwards and medially
 Treatment
• Patient refused radiation because of potential facial aesthetic
side-effects
• Bisphosphonate therapy started with e.g. zoledronic acid (4
mg every 28 days) and oral calcium carbonate (1500 mg/day)
• Three-dimensional CT scan of the mandible, as well as
creatinine and serum calcium levels, were performed monthly
• Therapy has been successful in stopping the progression of the
disease, and the patient has remained stable without further
bone resorption for more than 6 months
• Scheduled to continue zoledronic acid monthly for another 6
months, until month 12 of therapy, when, in case of disease
stability, a surgical reconstruction of the mandible will be
planned
 Discussion

• 1838 – Jackson reported the first case

• With regard to prognosis, the complications of
Gorham’s disease vary from minimal disability to
death
• Even if the osteolytic process often arrests
spontaneously, the involvement of vital structures,
such as the vertebral column and rib cage, is able
to cause death
• Allows normal patient activity to continue while
bone destruction occurs, making the patients
susceptible to pathologic fractures
• Involvement of the maxillo-facial region should lead to diagnose the
disease earlier, because of the subsequent frequent occurrence of
teeth mobility, the evaluation of dental radiographs required to
approach such a mobility, and the presence of cosmetic facial
disturbances
• Patients with these features are usually referred for evaluation to the
periodontist, who has the role to analyse the pathologic process and
differentiate it from several conditions able to cause osteolysis
localized to the periodontal region
• In this case, the radiographic features strongly mimicked periodontal
disease, thus probably leading to the previous diagnosis of
periodontal disease
• Oral hygiene was satisfactory
• Gingival tissues did not show signs of inflammation and
• Probing failed to show loss of attachment and periodontal pockets
• Lytic process is thought to start at the subcortical level (Motamedi et
al. 2003), it is likely that in early phases of Gorham’s disease the
resorption of alveolar bone might cause teeth mobility without
increased probing depths
• Observation of these clinical features might lead the periodontist to
further evaluate the other possible causes of alveolar osteolysis
mimicking periodontal disease on radiograph
• Biopsy from the involved area, laboratory investigations, as well as
imaging techniques should be performed to find a potential cause of
the osteolytic process.
• Definitive diagnosis of Gorham’s disease is a diagnosis of
exclusion, after having failed in detecting serum biochemical
abnormalities, and with microscopic findings showing a non-
specific vascular fibrous connective tissue containing foci of
lymphocytes, plasma cells and active fibroblasts
 Conclusion
• Gorham’s disease involves the jaws, the role of the
periodontologist is extremely important in diagnosing promptly
the disorder and preventing the functional and aesthetic
consequences of advanced and extensive bone loss.
• Furthermore, mandibular involvement is considered a potential
high-risk disease location, as severe progression from mandible
to maxilla, skull, and spine has been reported (Jackson 1838),
thus leading to poor prognosis.
• Accordingly, an early diagnosis of Gorham’s disease of the
maxillofacial regions is crucial to prevent patient’s morbidity and
mortality, and seems to be feasible because of the presence of
early signs such as teeth mobility and periodontitis-like alveolar
bone loss
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