1/139. Hodgkin's and Castleman's disease in a patient with systemic mastocytosis. Systemic mastocytosis is a rare condition characterized clinically by the local consequences of vasoactive peptides released from infiltrating mast cells in the reticuloendothelial tissues. mast cells originate from the pluripotent bone marrow stem cells; it is therefore not surprising that myeloproliferative and myelodysplastic disorders commonly coexist or terminate the clinical phase of mastocytosis. We report here, to our knowledge, the first case of Hodgkin's and Castleman's disease occurring in a patient with co-existent systemic mastocytosis, which remained unchanged after combination chemotherapy for Hodgkin's disease. ( info) |
| A 3-month-old male infant was referred to our department with a generalized brown, thickened leathery skin and blisters which had been present since birth; the blisters developed recurrently at sites of minor trauma, healing without scar formation, although Darier's sign was positive. Microscopically, biopsy specimens showed a dense dermal band-like infiltrate with mast cells, whereas a biopsy from a vesicle showed subepidermal bulla formation. physical examination did not reveal any systemic involvement with mastocytosis and the patient was treated with cyproheptadine, which has considerable anti-serotonin activity and, interestingly, reduced the degree of blistering; this treatment might therefore be tried in other cases. ( info) |
| Somatic mutations within c-kit have been reported in individuals with mastocytoses, including urticaria pigmentosa (UP). We have identified three siblings with UP. We aimed to determine whether the c-kit proto-oncogene was playing a part in the aetiology of UP in these three siblings. Using seven microsatellite repeat markers spanning an 8-cM interval encompassing the c-kit gene we followed the transmission of the c-kit gene in this family. Furthermore, single-strand conformation polymorphism analysis was used to scan exon 17 of the c-kit gene for mutations in genomic dna of all family members and somatic dna extracted from skin of the eldest affected sibling, the proband. No mutations were found in exon 17 in either genomic dna of all family members or somatic dna of the proband. patients with UP have been shown to possess somatic mutations of the c-kit gene. However, this locus has been excluded as playing a part in the three siblings examined here in whom a second gene locus must be determining their UP. Therefore, this study emphasizes genetic heterogeneity in UP. Future study to identify primary molecular determinants of UP should include affected sib-pair studies. ( info) |
4/139. Cutaneous and systemic manifestations of mastocytosis. mastocytosis is characterized by an excessive number of apparently normal mast cells in the skin and, occasionally, in other organs. Characteristic skin lesions, called urticaria pigmentosa, are present in most patients, but clinical presentation can vary from a pruritic rash to unexplained collapse and sudden death. These lesions are typically tan to red-brown macules that appear on the trunk and spread symmetrically. patients with mastocytosis often have a long history of chronic and acute symptoms that were unrecognized as mastocytosis. skin lesions may or may not accompany systemic mastocytosis. Systemic disease may involve the gastrointestinal tract, the bone marrow or other organs. Even when the disease is considered as a possibility by the physician, the diagnosis can be difficult because of special technical requirements necessary for biopsy and because of the problems with biochemical testing. drug therapy is initiated to stabilize mast cell membranes, to reduce the severity of the attacks and to block the action of inflammatory mediators. The mainstay of therapy is histamine H1 and H2 blockers and the avoidance of triggering factors. ( info) |
5/139. Juvenile xanthogranuloma variant: a clinicopathological case report and review of the literature. Juvenile xanthogranuloma is a relatively rare cutaneous lesion. In order to make an early diagnosis and be alert to the possibility of visceral complications and associated medical conditions, plastic surgeons should be aware of the entity. The classic presentation is that of successive eruptions in the head, neck and upper trunk of initially red papules or nodules which later become yellow and finally brown flattened plaques or macules. This report is of an unusual variant with atypical histology including frequent mitoses and a lack of Touton giant cells. ( info) |
6/139. Pseudoxanthomatous mastocytosis. A case of xanthelasmoidea (pseudoxanthomatous mastocytosis) occurring in a 50-year-old Iranian man is described. The patient had a large upper gastrointestinal haemorrhage. ( info) |
7/139. Diffuse dermographic mastocytosis without visible skin lesions. The case is presented of a 3-year-old girl with urticaria and pressure dermographism. The condition began the age of one year. A skin biopsy confirmed the suspected diagnosis of diffuse mastocytosis. The identification of the form of mastocytosis without skin lesions and with dermographism and pressure urticaria as its only signs is important. It should be considered in any chronic urticaria appearing at birth or in an early age which is unresponsive to the usual symptomatic medication. ( info) |
8/139. Electron microscopic findings in a case of systemic mastocytosis. For several decades urticaria pigmentosa had been considered to be a benign and purely cutaneous disease, caused by infiltrations of tissue mast cells in the skin. Yet until 1962 at least 24 cases of systemic mastocytosis had been published. Sagher estimated the incidence of systemic mastocytosis as being in the region of about 10% of all cases of urticaria pigmentosa. A case of systemic mastocytosis in a 4-year-old child is described. biopsy specimens were examined by electron microscopy to study the process of degranulation of tissue mast cells during which histamine and heparin are released. ( info) |
9/139. A case of 'smouldering' mastocytosis with high mast cell burden, monoclonal myeloid cells, and C-KIT mutation Asp-816-Val. mastocytosis is a term used for a group of disorders characterized by abnormal growth and accumulation of tissue mast cells (MC) in one or more organ systems. In patients with systemic mastocytosis (SM) the clinical course may be indolent or aggressive or even complicated by leukemic progression or an associated clonal hematologic non mast cell lineage disease (AHNMD). However, at first presentation (diagnosis) it may be difficult to define the category of disease and the prognosis. We report on a 48-year-old female patient with SM with urticaria pigmentosa-like skin lesions and mediator-related symptoms. She was found to have splenomegaly, a high infiltration grade (MC) in bone marrow biopsies (>30%), mild anemia, and a high serum tryptase level (>500 ng/ml). In addition, she exhibited discrete histologic signs of myeloproliferation in the 'non-affected' marrow and monoclonal blood cells established by C-KIT 2468A-->T mutation (Asp-816-Val) -analysis and HUMARA assay. Despite these findings, however, the clinical course was stable over years and no AHNMD or organ impairment developed. Because of the 'intermediate' clinical signs and absence of progression to aggressive disease, we proposed the term 'smouldering mastocytosis'. ( info) |
10/139. Slowly progressive systemic mastocytosis with high mast-cell burden and no evidence of a non-mast-cell hematologic disorder: an example of a smoldering case? A 43-year-old man with extensive systemic mastocytosis with poor prognostic indicators but no overt hematologic abnormality is described. This patient's clinical presentation and course are consistent with the newly proposed 'smoldering mastocytosis' category. Long-term follow-up of patients is needed to determine whether they may be at higher risk for progression into more aggressive categories. ( info) |