1/4. 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.- - - - - - - - - - ranking = 1keywords = mastocytosis (Clic here for more details about this article) |
2/4. Systemic mastocytosis presenting with severe spinal osteopenia and multiple compression fractures.Systemic mastocytosis is a rare condition in which mast cells infiltrate various organs, including the skeleton. Because the mast cell secretes various bioactive substances that may induce bone resorption, this condition may cause generalized osteoporosis. We describe a case of a 28-year-old woman who presented with a painful thoracolumbar kyphosis due to generalized osteopenia and multiple pathological compression fractures and was found to have mastocytosis. She underwent operative stabilization of her kyphotic deformity with anterior interbody fusion and posterior Cotrel-Dubousset (CD) instrumentation and fusion. We conclude that mastocytosis should be suspected in an atypical case of so-called idiopathic osteoporosis.- - - - - - - - - - ranking = 1.1666666666667keywords = mastocytosis (Clic here for more details about this article) |
3/4. Osteopenia in systemic mastocytosis: natural history and responses to treatment with inhibitors of bone resorption.Studies of a 63-year-old woman with osteopenia due to systemic mastocytosis are reported. Delay in making the diagnosis and the occurrence of coincident medical problems meant that radiographs during a 12-year period were available for study. Skeletal symptoms began 20 years after the skin lesions of mastocytosis first appeared, but once established bone loss was rapid, particularly from cortical bone (estimated at 3.75% pa). Biochemical and histological measurements indicated a "high turnover" bone disease and treatment with inhibitors of bone resorption was assessed. Oral, but not intravenous, clodronate was effective in reducing bone turnover as judged by falls in hydroxyproline excretion (p less than 0.01) and serum alkaline phosphatase (p less than 0.01). Mithramycin and chlorambucil were ineffective. Clodronate may be beneficial in arresting bone loss in this disorder.- - - - - - - - - - ranking = 1keywords = mastocytosis (Clic here for more details about this article) |
4/4. Systemic mastocytosis: a diagnostic challenge.We present an unusual case of adult-onset systemic mastocytosis with biopsy-proven skin and bone manifestations with the rare presentation of lumbar fracture and osteopenia. The normal 24-hour urine histamine is surprising in this patient, but it does not rule out mastocytosis. It is a sensitive assay that can give false negative results if stored before the assay is performed. Also histamine and PGD2 metabolites are more sensitive and specific. It is surprising that our patient did not have gastrointestinal symptoms. In one prospective study of 16 patients with systemic mastocytosis in which 75% had bone marrow involvement as the most common extracutaneous site, 80% were found to have gastrointestinal symptomatology, indicating such symptoms to be more common than previously thought. The lack of pruritus is also surprising, as most cutaneous lesions of urticaria pigmentosa are pruritic. Symptoms of systemic mastocytosis, particularly pruritus may respond to antihistamines and the bone disease may not respond to calcium and hormone manipulation. The main role of the latter is to prevent further bone loss. We may consider the use of cromolyn or ketotifen if she does not respond. Close follow-up will be needed to check for progression, however she appears to have a good prognosis with skin involvement and no hematologic abnormalities.- - - - - - - - - - ranking = 1.3333333333333keywords = mastocytosis (Clic here for more details about this article) |