Clinical manifestations include cranial nerve palsies, mandibular osteomyelitis, osteoarthritis of the hip, and nontraumatic fractures, particularly of the long bones Cleiren et al. For a discussion of genetic heterogeneity of autosomal dominant osteopetrosis, see OPTA1 A more malignant form, inherited as a recessive see OPTB1,causes anemia and early death from interference with the bone marrow. Welford described 14 affected male members of 5 generations of a family.
Patients may present with poorly localized bone pain, diffuse osteopenia or osteoporosis with fragility or pathologic fractures, diffuse osteo- sclerosis, or both focal osteolytic and osteosclerotic bone lesions.
SM has long been identified as a potential cause of osteoporosis. Nevertheless, until recently the bone involvement frequently has been described only in case reports or in small groups of patients. However, in these studies the reports also included elderly patients, so the real incidence of mastocytosis-related osteoporosis remains unclear.
In previous published experience17 the authors decided, in accord with guidelines of the International Society for Clinical Bone Densitometry,20 to use the Z score SD below the age- and gender-matched mean reference value in addition to the WHO osteoporosis definition based on the T score.
The threshold for that value to diagnose mastocytosis-related low bone mineral density BMD was set at less than 2, similar, for example, to what has been done for bone mineral classification in cystic fibrosis. ISM without mastocytosis in the skin might be a challenge for the physician,23 and the prevalence is possibly underestimated.
Moreover, the Z score at the total hip was significantly lower in those patients who did not have previous anaphylaxis when compared with those who did. This finding might simply reflect an earlier diagnosis in the latter group of patients.
The authors have records from patients 81 women, mean age 53 years, age range 23—84 years; men, mean age 49 years, age range 20—82 years. Indeed, lower lumbar or femoral BMD, in comparison with age-matched and Fig. Prevalence of osteoporosis in the largest available studies. Bone Involvement and Osteoporosis in Mastocytosis Fig.
All vertebral sites, including the cervical spine, can be involved. There was no difference in the prevalence of low BMD between patients with or without skin involvement, whereas it was greater in the subgroup with no personal history of anaphylaxis.
A total of fractures were reported, of which were secondary to low-energy trauma. Vertebral fracture assessment by dual X-ray absorptiometry; on the right, imaging outcomes of vertebroplasty are visible.
In SM either focal osteolytic or osteosclerotic bone lesions have been reported,15,16 and the coexistence of these lesions is frequent: The main limitation of the available studies is their cross-sectional nature, which does not allow establishment of the relationship between actual bone involvement and progression of the disease.
Longitudinal studies are needed to understand the evolution of skeletal involvement in patients with SM. This finding suggests a prevalent Bone Involvement and Osteoporosis in Mastocytosis involvement of trabecular bone tissue, although the reasons for this selective involve- ment remain unclear.
Possible reasons include the higher propensity of clonal mast cells to colonize the bone marrow, or a rapid progression of the bone loss, with a prev- alent involvement of the most metabolically active bone tissue. However, one cannot exclude that purely cortical bone loss may occur in mastocytosis, as previously suggested,29 or based on the recently observed high incidence of nonvertebral fractures.
In particular, cytokines such as tumor necrosis factor a TNF-ainterleukin IL -1, and IL-6, promotion of osteoclast activity, or inhibition of osteoblast function have been suggested to play a role. In the knock-out mice for histamine decarboxylase, the enzyme responsible for the production of histamine, osteoclast number is decreased and bone formation is increased.
Focusing on the bone histomorphometric analysis, in a few patients with osteopo- rosis in whom a bone biopsy was obtained, an increased1,2,26,37 or normal27 number of osteoclasts was reported. Regarding the histologic aspect,26 an important article has been recently published about a quantitative histomorphometric technique applied to a large number of patients.
Histomorphometric analysis revealed that both forms of ISM are characterized by deterioration of bone structure decrease in bone trabeculae and increased amount of osteoid and bone cell both osteoclasts and osteoblastswithout significant differences between patients with or without cutaneous involvement.
Thus, even if some morphologic and histologic features, such as reduction in trabeculae number and thickness, are similar to those observed in glucocorticoid- induced osteoporosis, others are completely different, especially the presence of os- teoblasts that are typically decreased by glucocorticoids.
ISM is associated with high bone turnover, and the extent of bone cell activity depends on mast cell number rather than cutaneous involvement. Surprisingly, in mastocytosis osteoporosis the increase in osteoclast and osteoblast number was greater when mast cells were gathered to form granulomas, rather than scattered.
Therefore, severity of bone involvement depended more on mast cell num- ber and distribution in the bone marrow than on the presence or absence of skin manifestations.
However, as previously reported,17 in the patients with osteoporotic manifestations serum BTM often were found to be normal, sometimes above and in such cases associated with increased uptake on bone scintiscan or even below the normal range; unlike other forms of osteoporosis, such as postmeno- pausal, they did not correlate with BMD Fig.
These results might suggest that Rossini et al Fig. Serum BTM assessing resorption CTX, deoxypyridinolineneoformation bALPor a serum osteoclast function—modulating cytokine osteoprotegerin [OPG] were significantly increased in patients compared with controls, although they showed a wide variability.
CTX and OPG levels were higher in patients with aggressive SM than with cutaneous or indolent systemic forms; more- over, they significantly correlated with serum tryptase level. The correlations between serum tryptase and BTM levels, as well as among BTM levels and disease aggressive- ness, support the existence of a link between the bone-remodeling process and the number of mast cells.
Similar to previous reports that elevated tryptase levels can be associated with greater bone density in patients with SM,8 in the subgroup of ISM patients with oste- oporosis there was a significant positive correlation between tryptase serum levels and Z-score BMD Fig.
Of note, in these patients serum tryptase levels also signif- icantly correlated with bALP serum levels Fig. In the patients with diffuse osteosclerosis secondary to SM, serum tryptase levels were particularly high.
This finding has been recently histologically confirmed on biopsies of patients with osteosclerosis in which, in addition to an increase in trabecular bone volume, there was an elevation of histologic bone turnover features,26 according to what was revealed by the measurement of serum BTM or scintiscan.
The pathophysiology of SM-related osteosclerosis remains obscure, although it is known that mast cells can exert a direct stimulatory effect on osteoblast proliferation, recruitment, and activity. One may surmise that in this condition, oppo- site effects on bone turnover may be observed in relation to the number of mast cells and their secreting activity.
RANKL is secreted by osteoblasts but also by other cells including bone marrow stromal cells.In later stages, there may be diffuse Osteosclerosis (abnormal hardening of the bone and elevation of bone density) of the head of femur (common site), but the shape of the head may be maintained.
In advanced stages, the head collapses. The diagnosis of primary osteoporosis is established by documentation of reduced bone density after exclusion of known causes of excessive bone loss. Assessment of bone density is currently recommended for all women 65 and older and for younger women who are at increased risk of osteoporosis.
Osteoporosis is a nonspecific term referring to a condition that is characterized by quantitative loss of bone, that is, atrophy of bone.
The bone that is present is entirely normal, since the organic and inorganic phases diminish in equal proportion. A repeat bone density measurement by DEXA revealed high bone density in the total hip (+ T-score) and in the vertebral spine (L1–L4) (+ T-score) (Figure 1).
His skull radiographs were remarkable for a thick calvarium with normal and symmetric density (Figure 2). As well as the vertical bone defect, pronounced retraction of the alveolar process and an absence of cancellous bone in the crestalpart of the alveolar ridge can be seen.
Planing Of Implant insertion in the maxilla in a case of agenesis of tooth the Bone structure in the region 25 shows a pronounced, thin cortical layer vestibularly, eith. After an introductory section to the alveolar ridge and requirements for dental implants, sections are devoted to each procedure: guided bone regeneration, sinus lift, distraction osteogenesis, block grafting, and free bone flaps.