1/32. Expansile skeletal hyperphosphatasia: a new familial metabolic bone disease.We describe a new familial metabolic bone disease characterized by expanding hyperostotic long bones, early onset deafness, premature tooth loss, and episodic hypercalcemia. The condition affects a mother and daughter studied at the age of 36 years and 11 years, respectively. Both individuals lost all hearing in early childhood and suffered premature shedding of teeth. Skeletal pains began just before puberty. Swelling and aching of most middle phalanges in the hands is an especially troublesome manifestation. The mother also had episodes of symptomatic hypercalcemia first documented in late childhood and subsequently during intercurrent illness and postpartum lactation. Radiographs show hyperostosis and/or osteosclerosis predominantly in the skull and appendicular skeleton. Long bones also are expanded considerably, especially the middle phalanges in the fingers. The mother's skeletal abnormalities are more severe. Biochemical parameters of bone turnover, including serum alkaline phosphatase (ALP) activity, are elevated substantially. In the proposita, dynamic histomorphometry of nondecalcified sections of iliac crest revealed rapid skeletal remodeling. In the mother, who had been treated with bisphosphonates, electron microscopy (EM) showed disorganized collagen bundles as well as necrotic and apoptotic bone cells but no osteocytic osteolysis. measles virus gene transcripts were not detected in peripheral blood monocytes. karyotyping was normal, 46,XX. Hyperphosphatasia with bone disease previously has been reported as either a sporadic or autosomal recessive condition. Expansile skeletal hyperphosphatasia (ESH) is probably inherited as an autosomal dominant trait with a high degree of penetrance.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
2/32. syndactyly/brachyphalangy and nail dysplasias as marker lesions for sclerosteosis.Sclerosteosis describes an autosomal recessive form of hyperostosis corticalis generalisata (MIM 239100). Sclerosteosis is primarily a disorder of osteoblast hyperactivity and metabolic abnormalities are not present. Besides generalized bone changes the presence of asymmetric cutaneous syndactyly of the index and middle fingers is characteristic. In many cases this syndactyly is associated with nail dysplasia and therefore dermatologists should recognize this clinical finding as a possible marker of this entity. We report on a 36-year-old female of Greek origin who had had finger and nail dysplasias and facial asymmetry since birth. The patient was hospitalized on the neurology ward because of increasing spastic and ataxic gait disturbances. physical examination revealed numerous neurological problems resulting from bony compression of nerves. Furthermore the patient had remarkably deformed fingers with hypoplasia of the second finger on both sides. The nails were dysplastic, especially on both index fingers. All laboratory results concerning metabolic diseases were normal. It has been shown that sclerosteosis is clinically and radiographically very similar to van Buchem disease. Through a genome-wide search with a highly polymorphic microsatellite the gene responsible for van Buchem disease has been mapped to 17q12-q21, and Balemans et al. (1999) assigned the locus for sclerosteosis to the same region providing genetic support for the hypothesis of allelism. Dermatologists should be able to interpret such syndactyly associated with nail deformities as a possible hint for the diagnosis of sclerosteosis in patients with hyperostotic features.- - - - - - - - - - ranking = 10.867335493723keywords = nerve (Clic here for more details about this article) |
3/32. erdheim-chester disease with extensive marrow necrosis: a case report and literature review.erdheim-chester disease is a rare systemic disorder characterized by a fibrosing xanthogranulomatous infiltration of multiple organs. We report a case of erdheim-chester disease with diffuse necrosis leading to difficulty in making a prompt diagnosis. Radiologically, osteosclerotic lesions with osteolytic element involved metadiaphyses of both proximal tibia, and retroperitoneal infiltrations encasing both kidneys, both adrenals, and aorta were found. A biopsy of the tibia showed diffuse infiltration of foamy histiocytes, Touton-type giant cells, and fibroblastic cells associated with extensive coagulative necrosis. Immunohistochemically, foamy histiocytes were positive for CD68 and peanut agglutinin and negative for S-100 protein. A few Langerhans' cells, which were difficult to identify in hematoxylin-eosin stain, were highlighted by immunostain for S-100 protein. The patient received supportive therapy and was alive 1 1/2 years after diagnosis, with newly developed bilateral retrobulbar lesions and worsened heart failure.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
4/32. Psychoneuroendocrine disturbances in a patient with a rare granulomatous disease.erdheim-chester disease (ECD) and Langerhans' cell histiocytosis (LCH) are rare granulomatosis-like diseases of unknown etiology which are characterized by lipoidgranulomatous infiltrates in various organs. Contrary to LCH, endocrine and cerebral lesions were infrequently observed in ECD. We report on a patient with the clinical diagnosis of ECD displaying endocrine and cerebral manifestations and skeletal, pulmonary and soft tissue involvement. Disturbance of the endocrine system was revealed by enlargement of the pituitary, partial deficiency of growth hormone (GH), hyperprolactinemia and testosterone deficiency. Cerebral involvement included sinus vein thrombosis, pathologic acoustic evoked potentials, persistence of gadolinium enhancement after magnetic resonance imaging and hypomania. These findings emphasize the importance to assess endocrine and cerebral function in patients with rare granulomatous diseases like ECD and multiorgan involvement.- - - - - - - - - - ranking = 2keywords = organ (Clic here for more details about this article) |
5/32. strontium-89: a novel treatment for a case of osteosclerotic myeloma associated with life-threatening neuropathy.Osteosclerotic myeloma is a rare disorder characterized by paraproteinaemia and osteosclerosis, and may be associated with a progressive peripheral neuropathy. patients with widespread osteosclerotic lesions can succumb from neurological complications despite systemic chemotherapy. We present a case of disseminated osteosclerotic myeloma associated with POEMS (peripheral neuropathy, organomegaly, endocrinopathy, M band, skin changes) syndrome, which was complicated by a rapidly progressive, life-threatening neuropathy. The patient's symptoms remained unchanged in the face of combination chemotherapy. However, a substantial improvement was seen following outpatient treatment with the commonly available radioisotope strontium 89 in combination with steroids.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
6/32. FLAG chemotherapy followed by allogeneic stem cell transplant using nonmyeloablative conditioning induces regression of myelofibrosis with myeloid metaplasia.A 38-year-old woman with agnogenic myeloid metaplasia complicated by the poor prognostic factors of severe osteosclerosis, prominent hepatosplenomegaly, and profound anemia was treated with FLAG chemotherapy to decrease her organomegaly before undergoing a nonmyeloablative allogeneic stem cell transplant from a matched-sibling donor. The patient's pre- and post transplant course were complicated by an autoimmune disorder and her post transplant course was complicated by severe hepatic and gastrointestinal GVHD. A technetium-99m sulfur colloid scan 4 months post transplant and bone marrow studies 8 months post transplant demonstrated intramedullary hematopoiesis, complete resolution of marrow fibrosis, and partial resolution of osteosclerosis.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
7/32. multiple myeloma presenting with widespread osteosclerotic lesions.Sclerotic lesions are rare in malignant monoclonal gammopathies, although they are occasionally associated with poems syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy and skin changes). In most cases, osseous lesions in poems syndrome present as an isolated sclerotic deposit or a combination of both lytic and sclerotic lesions. Diffuse osteosclerosis is extremely rare and may lead to the diagnosis of multiple myeloma, classically known to present as lytic lesions in the skeleton, with or without diffuse osteoporosis. We report a 74-year-old woman with widespread and substantial osteosclerotic lesions, associated with IgA-lambda myeloma, and with no other criteria for poems syndrome, and who was rapidly diagnosed with compression of the spinal cord. Detailed knowledge of imaging features in myeloma emphasises the need to consider plasma cell neoplasm in the differential diagnosis of any pattern of bone sclerosis. Although exceptional, multiple myeloma must be borne in mind in the presence of diffuse bone sclerosis.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
8/32. Polyneuropathy with osteosclerotic myeloma--poems syndrome.A 55-years-old male, who presented with insidious onset gradually progressive sensorimotor polyneuropathy, POEMS-syndrome was diagnosed based on polyneuropathy, splenomegaly, hypothyroidism, the presence of IgG-monoclonal serum protein with osteosclerotic lesions and hyperpigmention of skin. biopsy of the osteosclerotic lesion from the right superior pubic rami was consistent with plasmocytoma. Electrophysiological studies revealed demyelinating sensorimotor neuropathy and biopsy from sural nerve showed demyelinating neuropathy with secondary axonopathy. The patient showed improvement with radiotherapy. This is a rare systemic disease from the clinical spectrum of plasma cell dyscrasias with polyneuropathy. The importance of poems syndrome in the differential diagnosis of polyneuropathies has been emphasized.- - - - - - - - - - ranking = 10.867335493723keywords = nerve (Clic here for more details about this article) |
9/32. An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation.Gain-of-function mutations in LRP5 have been shown to cause high BMD disorders showing variable expression of some clinical symptoms, including torus palatinus and neurological complications. In an extended family, we were able to add craniosynostosis and developmental delay to the clinical spectrum associated with LRP5 mutations. We report on an extended four-generation family with 13 affected individuals (7 men and 6 women) in which an autosomal dominant type of osteosclerosis segregates. osteosclerosis was most pronounced in the cranial base and calvarium, starting in early childhood with variable expression and a progressive character. Craniosynostosis at an early age was reported in four affected family members (two males and two females). The patients also presented with dysmorphic features (macrocephaly, brachycephaly, wide and high forehead, hypertelorism, prominent cheekbones, prominent jaw). They have normal height and proportions. Neurological complications like entrapment of cranial nerves resulting in optical nerve atrophy, hearing loss, and facial palsy were reported in two individuals. A mild developmental delay was reported in three affected individuals. None of the patients have torus palatinus, increased rate of fractures, osteomyelitis, hepatosplenomegaly, or pancytopenia. A missense mutation 640G-->A (A214T) in the low-density lipoprotein receptor-related protein 5 (LRP5) gene was found in all affected individuals analyzed, including cases in whom craniosynostosis, a mild developmental delay, and/or macrocephaly is observed. To our knowledge, this is the first report in the literature of patients presenting with autosomal dominant osteosclerosis in whom a variable expression of craniosynostosis, macrocephaly, and mild developmental delay is observed, which is most likely associated with a mutation in the LRP5 gene. These phenotypes can therefore be added to the clinical spectrum of LRP5-associated bone disorders.- - - - - - - - - - ranking = 21.734670987446keywords = nerve (Clic here for more details about this article) |
10/32. Bone graft and implants in a patient with systemic mastocytosis.BACKGROUND: Systemic mastocytosis (mast-cell proliferation in various organs, including the skeleton) is a rare disease. Reports on mastocytosis that affects facial bones are few. The bone lesions may be osteolytic or sclerotic. PURPOSE: To describe (for the first time) bone grafting followed by dental implant treatment yielding a good result in a patient with systemic mastocytosis. MATERIALS AND methods: A bone graft was performed on a 60-year-old woman with systemic mastocytosis. Dental implant treatment was performed 13 weeks after sclerotic bone of the iliac crest was grafted to the maxillary sinus bilaterally. A microimplant was installed simultaneously with the dental implants and was removed 6 months later for histomorphometric evaluation. Bone biopsy specimens from the donor site of the sclerotic iliac crest and later from the remodeled maxillary bone graft were histologically analyzed. A clinical examination of the patient with regard to her mastocytosis was performed by a dermatologist. The patient was followed up after 3 years. RESULTS: Bone grafting and dental implant treatment were successful, and the patient's clinical and radiologic situation was stable after 3 years. Histologic examination of the bone grafted from the iliac crest showed sclerotic lesions in the bone and a dense infiltration of mast cells. The bone graft seemed to remodel initially in a normal way in the maxillary sinus. However, computed tomography 3 years later showed regions of sclerosis in the remodeled maxillary bone. These lesions now had a pattern similar to the adjacent facial bone. Both the microimplant and the dental implants integrated well. Bone-implant contact measured on the microimplants was 20% higher in this actual case, compared to that of patients previously treated and grafted with the same technique. CONCLUSIONS: There are many clinical implications to be considered when treating this group of patients. Bone grafting, remodeling of the bone, and dental implant installation were successful in this patient with systemic mastocytosis and signs of osteosclerosis. Installation of microimplants in patients with pathologic bone conditions may allow successful dental implant treatment.- - - - - - - - - - ranking = 1keywords = organ (Clic here for more details about this article) |
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