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The mast cell, which contains many potent bioactive substances, by its very location must have an effect on bone metabolism in health and disease. In this article, the early questions about mast cells in bone raised by Urist and McLean almost thirty years ago are only partially answered, but the work continues to stimulate new experimental and clinical research on the function of mast cells.

Systemic mastocytosis is a rare disorder that infrequently affects the GI tract. Bowel involvement in mastocytosis is characterized by thickened folds and small mucosal nodules, and there is an increased incidence of peptic ulcer disease and malabsorption. This paper describes a new case of mastocytosis that presented radiographically as 1.0-1.5 cm gastric and duodenal nodules. Some of the duodenal nodules were bull's-eye lesions with central collections of barium. Mastocytosis, along with primary neoplasms, aberrant pancreas, eosinophilic granuloma, and metastases should be included in the differential for bull's-eye lesions of the GI tract.

Bone radiological signs in six cases of systemic mastocytosis are described: lesions may be diffuse or circumscribed and of the condensation and/or rarefaction type. In most cases, however, the lesions are of the mixed type. Bone mastocytosis may occur without any cutaneous lesions and this emphasizes the value, from the diagnostic point of view, of radiological examinations of the skeleton. Diagnosis is defined and confirmed by three features: the association of condensing lesions and bone rarefactions in different regions of the skeleton; the presence of mastocytic proliferation in stained biopsy specimens from the posterior iliac bone which is not decalcified; fixation of 99m tc pyrophosphate in the axial skeleton on scintigraphy.

Systemic mastocytosis is uncommon. A patient is reported with many of the characteristic lesions of this disorder but with two features not before described--the occurrence of mixed pyramidal and neuromyopathic neurological signs and the demonstration of lymph nodes with abnormal architecture by lymphography.

Bone scans and skeletal x-rays of eight patients with systemic mastocytosis were reviewed. Mast cell infiltration of bone marrow had been proven histologically in every patient. Bone scan and roentgenographic findings are not specific for the disease and do not correlate well in some patients. A generalized increase of uptake was noted in two patients, a generalized decrease of skeletal activity with poor delineation of bony structures was observed in others. A circumscribed increase of activity was observed in some patients, only one patient had a normal bone scan. Roentgenographic examination revealed diffuse sclerosis of trabecular bone in three patients, osteoporosis with collapse of multiple vertebral bodies in three patients, and no abnormalities in two patients.

A 66-yr-old male with systemic mastocytosis is presented along with classic imaging findings of dense bone on radiographs, intense uptake on bone scan and marrow expansion on bone marrow scan. Dual photon absorptiometry (DPA) measurements of the skeleton revealed a very high bone mineral measurement of 1.678 grams per square centimeter (lumbar vertebrae 2 through 4). It is suggested that DPA may be useful to follow the development of mast cell disease in the bones.

Three patients are demonstrated suffering from systemic mastocytosis with skin and skeletal involvement. History, clinical and radiological results are reported. After a brief analysis of the pathogenetic mechanism, the radiological findings on the skeletal system in systemic mastocytosis are discussed. Finally, roentgenological differential diagnosis of the osseous lesions is explained.

Two cases of mastocytosis with skeletal involvement in children three and six months old are reported. Bone lesions, either sclerotic or lytic, were encountered in their skeletal surveys. Gastrointestinal lesions in children with mastocytosis are exceedingly rare; in addition to skeletal lesions, one of our patients had a large duodenal ulcer. The diagnosis of mastocytosis was established by skin biopsy in both patients. A review of the literature is also presented.

Scintigraphic findings in ten cases of systemic mastocytosis are described. Four radionuclide bone patterns were noted: normal, unifocal, multifocal, and diffuse. Compared with radiographic surveys, bone images were better able to show the widespread skeletal involvement in patients with diffuse disease, and to detect a greater number of focal lesions. Serum calcium, phosphorus, and bone-derived alkaline phosphatase, as well as urinary calcium, phosphorus, and hydroxyproline levels, were usually within normal limits even when the bone scintigrams were clearly abnormal. Plasma and urinary histamine levels were highest in patients whose bone images detected widespread skeletal involvement. In systemic mastocytosis, not only does scintigraphy document active bone disease more effectively than laboratory studies of bone metabolism and radiographs of bone, but it also appears to reflect the general severity of the disease process.

The most common gastrointestinal lesions encountered in systemic mastocytosis are the gastric, duodenal and small bowell lesions. The authors present a case of diffuse colonic involvement diagnosed on a double contrast examination. The radiological signs correlated with the endoscopical and histological findings are due to a submucosal edema and a polymorphic cellular infiltrate. The involvement of the colon is probably more frequent then previously thought. It could explain the diarrhea encountered in some patients affected by this disease.

Mastocytosis (urticaria pigmentosa) was proven in a patient suffering from severe back pain. A bone scan showed diffusely increased bone activity. Count rates were also abnormally elevated over several areas of the skeleton. Radiographs were consistent with mastocytosis in bone.

Systemic mastocytosis is a multiorgan disease that most commonly affects the skin and skeletal system. Radiographically, the skeletal changes in the majority of patients consist of either a wide-spread mixture of bone lysis and osteosclerosis or generalized osteoporosis. The osteoporotic form is less well known but may lead to severe generalized demineralization and pathologic fractures. Mast cells secrete a number of substances, two of which (heparin and prostaglandins) are believed to have a role in the induction of osteoporosis. Sclerotic lesions are induced by another mast cell by-product, histamine. One hundred seventy-eight cases of bony mastocytosis have been reported in the literature, including the four patients in the present report. Special staining procedures are necessary for identification of mast cells. Diagnosis may be delayed in patients who do not have the skin lesions (urticaria pigmentosa) and in the osteoporotic form of the disease.

In 36 patients with mastocytosis pathological changes in liver and spleen were scintigraphically demonstrated. These changes are due to the histologically proven involvement of the reticuloendothelial system. The infiltration of the liver by mast cells was not evident in liver biopsy.

Conventional chest roentgenograms provide an opportunity to study changes in the thoracic cage produced by systemic or localized disorders. Careful evaluation of abnormalities often gives a clue to the diagnosis of clinically unsuspected disorders. In this article, the authors present a review of developmental, granulomatous, collagen vascular, hematopoietic, metabolic, endocrine, and neoplastic disorders affecting the thoracic cage.

The objective of the present investigation was to establish the frequency of systemic spreading of urticaria pigmentosa by means of bone and bone marrow scintigraphy as a noninvasive imaging technique with a low radiation exposure. Bone scintigraphy: Seven of nine patients investigated showed diffuse and focal nuclide accumulation. After exclusion of other causes by reference to the case history and the clinical and chemical laboratory findings, these nuclide accumulations were regarded as mastocytosis-specific in accordance with the atypical localization. Bone-marrow scintigraphy: All the patient investigated showed a peripheral expansion of the bone marrow. This must be interpreted as an expansion of the macrophages of the bone marrow on the basis of the method used. Since the mast cell is regarded as a more highly differentiated form of the same cell-type as macrophages/monocytes, on the basis of the scintigraphic results presented, urticaria pigmentosa can be regarded pathogenetically as a hyperplasia of the macrophages of the bone marrow organ, with increased differentiation in mast cells. The extent of this differentiation and its pathological quality then determine the clinical signs and symptoms (cutaneous, systemic, or malignant mastocytosis). Urticaria pigmentosa thus has the character of a systemic disease.

Lymphography revealed the nature of diffuse lymph node involvement in systemic mastocytosis with diffuse bone involvement and hematological signs, similar to that seen in some malignant hematological diseases or in osteomyelosclerosis. The final stages of transformation into acute lymphoblastic leukemia must also be considered.

The syndrome of mastocytosis extends from cutaneous urticaria pigmentosa through systemic mastocytosis to the rarely occurring mast cell leukaemia. Our investigations with a large patient collective have shown that systemic forms of the disease occur more often than is generally supposed. In particular the incidence of bone marrow manifestations deserve more attention. The inflammatory-granulomatous findings in the bone marrow suggest an immunoactive component in the pathogenesis of this disease. The bone lesions that occur in about 50% of patients are probably the result of the common endosteal site of the mastocytosis granuloma. These lesions can be generalized (osteoporosis-osteosclerosis) or localized (osteolytic-osteosclerotic foci). In clinical practice bone biopsy and skeletal radiology complement one another; in addition to skin biopsy bone biopsy supplies the initial diagnosis of mastocytosis and documents systemic manifestation; the X-ray picture informs the clinician about the type and extent of the bone pathology.

A 3-year-old boy with systemic mastocytosis has been observed since the age of 4 months when he was first diagnosed as suffering from urticaria pigmentosa. Involvement of skin, liver, spleen and bones was observed. The electron microscopy of skin and liver revealed varied alterations in the morphology of mast cells. The most important findings were irregularly-shaped cells and unusual long and interdigitated cytoplasmic villi, with consequent aggregation of mast cells which was more prominent in the dermis. Proliferation and accumulation of mitochondria in one part of the cell and deeply indented nuclei were frequent. The problem, whether the morphological changes encountered--especially the complex interdigitation of villi--should be interpreted as a sign of expected neoplastic development, is discussed.

Two patients with mast cell disease presented with unusual features. In one the absence of skin lesions made the diagnositic problem a challenging one. Certain of the laboratory findings, especially those related to the serum cholesterol concentration and platelet function tests, were particularyl interesting. Chemotherapy induced partial remission. The second patient had a long, relatively benign course complicated by two episodes of herpes zoster, the last being associated with the Landry-Guillain-Barre syndrome. In both patients the skeletal abnormalities were radiologically similar. When these are present they should be considereed sufficiently characteristic to indicate strongly a diagnosis of mastocytosis.