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Xanthogranuloma (XG) is a rare disease in adults. The authors report a case of XG in an 20 years-old woman. This observation is particularly interesting: First by the pathology of the cutaneous lesion which showed a dermal infiltrate composed of histiocytes and a few foamy cells but without Touton giant cells. Second by is association with a mastocytosis which disappeared when XG appeared. These data led the authors to discuss the misleading histology pattern of XG and also the pathogenesis of XG. In our case, it would appeared as a benign reactive process against mastocytosis.

A case of systemic mastocytosis in a 33-year-old man, with multiple spine fractures caused by severe osteoporosis, is presented. The diagnosis could only be established three years after the initial symptoms, when the patient developed skin eruption. Skin and bone biopsy, as well as histamine dosage, confirmed the diagnosis.

Thirty two cases of the association of mastocytosis and bone lesions were collected in a multicentre study. Five cases involved osteocondensation forms. However, most often (27 cases), there was osteoporosis (OP). The diagnosis was made in the absence of obvious risk factors, and thus often in men (2/3 of patients), when there was the association of pigmented urticaria and an excess of mast cells in bone biopsies. Laboratory, radiological and isotope scan findings are often non-specific, being identical to those encountered in common OP. The histomorphometric profile involves an association of decreased cancellous bone volume, increased area of resorption and decreased bone formation parameters. Progression to malignant mastocytosis occurs essentially in diffuse osteocondensation forms and is rare in OP types. Emphasis must be placed on the importance of qualitative study of bone marrow, using specific stains, since the diagnosis may be missed in the absence of typical skin lesions. Conversely, since a simple increase in mast cell count is possible during common OP, a search for mast cell nodules is important in order to establish the diagnosis with certitude.

Systemic mastocytosis is a rare, often undiagnosed disease characterized by the proliferation of mast cells in several tissues. The clinical symptoms are related to the mast cell infiltrates, but also to the release of numerous mediators. Malignant mastocytosis is a term that refers to two different entities: aggressive mastocytosis, where the outcome with a myeloproliferative disease, where the latter governs the prognosis. The potential severity of these diseases justifies the development of more intensive therapeutic measures.

The authors report a case of urticaria pigmentosa with systemic mastocytosis and review the literature on this occasion. The onset of the disease was marked by the development of ascites. Ascites is rarely mentioned in this affection and remains, as with other manifestations of systemic mastocytosis, without any explanation. The diagnosis was established first on the diffuse mastocyte-infiltration especially in the bone-marrow and second, on the hypersecretion of hormonal factors especially histamine by mastocytes. The symptomatic treatment of this affection is based on histamine inhibitors and disodium cromoglycate seems to be an efficient drug. With the possible development of acute leukemia, the eventual association with a carcinoma and the frequency of serious digestive bleeding, the prognosis may be very poor.

The authors describe bone marrow lesions in five cases of mastocytosis, with particular emphasis on the characteristic features of the infiltration of the mast cells, and the associated bone and medullary lesions. The five cases show two features not commonly encountered in the literature: the presence of seric dysglobulinemia with medullary polyclonal plasmacytosis in two cases; and the association of mast cells with Hamazaki-Wesenberg bodies in the other three. After recalling the actual mechanisms of bone lesions secondary to mast cell infiltration, the authors propose an explanation for the non-casual association of mastocytosis and Hamazaki-Wesenberg bodies, which has not been previously reported.

The authors reviewed the literature of cases of mastocytosis with either anetoderma or pseudo-pelade. They studied the different substances in the secretions of mastocytes which could have an effect on collagen and elastic fibres. They supported the theory that there is a susceptible connective tissue. They stressed the underestimation of these associated features of mastocytosis.

The case of a 37 year old man with systemic malignant cutaneous mastocytosis is reported. The outcome was fatal after eight months. Death was due to a diffuse hemorrhagic syndrome which originated in an abnormal circulating heparinoid. Nosologically, this is a border-line case between mast cell leukemia and leukemic systemic mastocytosis.

In a 70-year old man who has been suffering for 20 years from mastocytosis, a syncope followed by a transitory amaurosis occured. Neurological complications of mastocytosis are exceptionnal. Syncope is the most frequent, secondary to a drop in arterial pressure due to an inappropriate discharge of histamin.

Three nurslings are described with diffuse mast cell disease characterized by blisters on widespread skin involvement. The skin changes may be associated with important generalized flares in relation with degranulating mast cell. The mastocytosis infiltrats seems localized to the skin. The skin lesions heal or regress slowly as in other mast cell disorders but long-term evolution remains very impredictable.

The authors report the case of a patient suffering from systemic mastocytosis with cutaneous, medullary, bone, hepatic and splenic involvement, the clinical and haematological picture of which was that of myeloid splenomegaly. Furthermore, this picture included hypersplenism, clearly demonstrated by isotopic study and the successful results of splenectomy. Blood histamine levels were normal though urinary excretion of histamine was increased. Histamine levels in the spleen were greatly increased. Serotonin levels in the blood and its urinary metabolites were normal. Heparin activity was demonstrated in the spleen, but not in the blood.

We describe a 62-year-old woman who presented with a recurrent neurofibroma, two 'café-au-lait' spots and a possible cerebral tumor. This Von Recklinghausen neurofibromatosis was associated with an asymptomatic systemic mastocytosis with bone marrow involvement. We discuss Riccardi's recent theory on the pathogenesis of neurofibroma which postulates that the mast cells have a primordial role in the development of neurofibroma. Our observation could be additional evidence in favor of this theory.

The case of a 46 year old man with systemic mastocytosis with myocardial and pericardial involvement confirmed histologically after open biopsy is reported. The patient presented with skin, bone and medullary lesions and, in addition, with atrioventricular block and pericardial effusion. The possible mechanisms of the atrioventricular conduction defect are examined in the light of the physiological role of the mastocyte and research into the action of histamine on the myocardium. In particular, the negative dromotropic effect of histamine and fibrosis formation related to the mastocyte's function of connective tissue regeneration are discussed. This case, though rare, should alert the clinician to the possibility of myocardial and pericardial involvement in patients with mastocytosis. Further study into the effects of histamine on myocardium under physiological and pathological conditions is required.

A patient presented with cutaneous mastocytosis, bone pains, biologic disorders typical of osteomalacia, and intestinal malabsorption. Bone biopsy with histomorphometric analysis and measure of calcification rate on undecalcified bone, confirmed the diagnosis of bone mastocytosis and osteomalacia. There are only 2 other reports of osteomalacia caused by malabsorption. The latter is possibly bound to a mast-cell infiltrate of the intestinal mucosa. Sometimes only villosity atrophy or oedema of the mucosa are observed.

With reference to an observation, thirty-four cases of systemic mastocytosis with intestinal malabsorption are reviewed. The most characteristic intestinal anomalies are the steatorrhea, partial villous atrophy and deficiency in secretory IgA. Routine investigations for mastocytosis may be warranted in patients with malabsorption. A markedly telangiectatic and angiomatous aspect of cutaneous lesions may be suggestive of the association.

The authors report a case of Ph 1 positive chronic myelocytic leukemia associated with cutaneous mastocytosis, occuring lately in a 75 years old man. 12 similar cases (associations mastocytosis chronic or acute leukemia) are described in the literature.