Cases reported "Osteolysis"

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1/15. Severe osteoporosis in familial hajdu-cheney syndrome: progression of acro-osteolysis and osteoporosis during long-term follow-up.

    hajdu-cheney syndrome is an autosomal dominant inherited osteodysplastic bone disease with the hallmarks of acro-osteolysis, skull deformations, and generalized osteoporosis. Very few patients have been followed long-term with respect to the prognosis of acro-osteolysis and osteoporosis. Here we describe a 39-year-old woman and her 19-year-old daughter who are both affected with the hajdu-cheney syndrome. Skeletal lesions were followed in the mother between the ages of 22 and 39 years. The acro-osteolytic lesions progressed markedly and caused shortening of several fingers; some end phalanges had completely disappeared. Severe spinal osteoporosis with serial vertebral fractures was found at the age of 22 years. New vertebral fractures developed until the age of 33 years, but did not progress afterward. High turnover osteoporosis was found in the bone histology of iliac crest biopsies performed at the ages of 22 and 34 years. Bone mineral content (BMC) was strikingly decreased at the age of 34 years (T score -5.1 SD) and did not significantly change during further follow-up. In the daughter, BMC failed to increase between the ages of 12 and 19 years and was also markedly decreased (T score -4.4 SD). This suggests that osteoporosis in hajdu-cheney syndrome is related to a low peak bone mass and a high bone turnover, leading to insufficient bone formation compared with the increased bone resorption.
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keywords = finger
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2/15. Destructive hip disease complicating traumatic paraplegia.

    Recent progress in the management of spinal cord injury has provided longer survivals, and as a result the incidence of secondary bone and joint disorders has increased. Joint lesions due to syringomyelia complicating a cervical spinal cord injury are the most common of these disorders. We report a case of destructive hip disease 7 years after an injury responsible for complete paraplegia with sensory loss. The joint lesions were painless, and there was no local evidence of inflammation. hip radiographs disclosed atrophic osteoarthropathy with complete destruction of the femoral neck and head. This unusual case raises questions about the pathophysiology of neuropathic osteoarthropathy in paraplegics.
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keywords = osteoarthropathy
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3/15. Phalangeal microgeodic syndrome: MR appearance.

    The authors describe the MR features of a case of microgeodic phalangeal syndrome in a 9-year-old boy. Roentgenograms showed multiple small areas of osteolysis in the middle phalanx of the right index finger. T1-weighted MR images showed lesions with diffuse low signal intensity not only in this phalanx but also in other phalanges. These lesions exhibited high signal intensity on T2-weighted images. Contrast-enhanced T1-weighted images showed a wide non-enhancing area in the middle phalanx of the index finger.
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keywords = finger
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4/15. Phalangeal microgeodic syndrome and pine processionary caterpillar.

    We describe an 11-month-old-girl with a 1-month history of edematous fingers. She had been hospitalized 3 months before for a mucocutaneous reaction to a processionary caterpillar. Manifestations of arthritis or systemic illness were absent. Radiographs of fingers showed small round lytic lesions within the middle and distal phalanges. A diagnosis of 'Phalangeal Microgeodic Syndrome' (PMS) was established. Bone biopsy of an osteolytic lesion showed fibrosis and foreign bodies with hair aspect surrounded by an epithelioid granuloma. PMS signs include sub-acute swelling and redness of fingers associated with microgeodic osteolytic lesions of phalanges. Sickle-cell anemia, syphilis, osteomyelitis, tuberculosis and sarcoidosis are the main differential diagnoses to exclude. The etiology is still unknown. Circulatory disturbances in the phalanges exposed to low temperatures have been mentioned by several authors. We describe the first case of PMS in a child with a clear history of play with a caterpillar and the presence of a caterpillar hair with epithelioid granuloma in an osteolytic lesion.
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keywords = finger
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5/15. Olmsted syndrome with squamous cell carcinoma of extremities and adenocarcinoma of the lung: failure to detect loricrin gene mutation.

    Olmsted syndrome is an uncommon disorder of keratinization that presents mutilating palmoplantar keratoderma, periorificial hyperkeratosis, leukokeratosis and alopecia. We report a new case of this rare syndrome diagnosed in 48-year-old woman who developed several squamous cell carcinomas of limbs and adenocarcinoma of the lung. She has been followed up for about 40 years and osteolytic changes of the fingers and toes accompanied the keratinizing disorder and squamous cell carcinoma. Loricrin gene mutation that is occasionally observed in loricrin keratoderma such as Vohwinkel's syndrome was not detected in the present case.
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keywords = finger
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6/15. Persistent skin ulcers, mutilations, and acro-osteolysis in hereditary sensory and autonomic neuropathy with phospholipid excretion. Report of a family.

    We observed three children in a Turkish family who from early childhood had deformations of the feet and torpid ulcers with subfocal osteomyelitis and osteolysis, which subsequently led to amputations. The fingers showed ainhumlike constriction bands and spontaneous amputations. Neurologic studies revealed an almost complete sensory and autonomic loss affecting all modalities and a marked involvement of motor fibers. The clinical symptoms fulfill many of the hallmarks of hereditary sensory and autonomic neuropathy type II, including autosomal recessive inheritance, onset of symptoms in childhood, and mutilating acropathy. A high urinary excretion of sphingomyelin and lecithin suggests that the pathogenic mechanism may be a disorder of phospholipid metabolism.
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keywords = finger
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7/15. Massive acroosteolysis in adult T-cell leukemia/lymphoma.

    adult T-cell leukemia/lymphoma is a relatively uncommon disease, most often found in japan, the Caribbean, the southeastern united states, and south america. To date there have been few reports of its skeletal manifestations. A case is reported in a 44-year-old man in which a short history of swelling of the hands and feet and painful motion in the fingers was followed by the rapid development of severe acroosteolysis.
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8/15. finger joint calcinosis followed by osteolysis in a patient with multisystem connective tissue disease and anti-Jo-1 antibody.

    The unique progression of distal interphalangeal finger joint calcinosis to total joint osteolysis in a patient with multisystem connective tissue disease is reported. Despite being anti-nuclear antibody negative, anti-Jo-1 antibody was detected.
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9/15. Idiopathic familial acroosteolysis: histomorphometric study of bone and literature review of the hajdu-cheney syndrome.

    We describe a 27-year-old man with familial acroosteolysis involving 9 fingers. Bone biopsy of an affected digit showed osteolysis with no tetracycline deposition, rare osteoclasts, increased vascularity, and numerous mast cells. In contrast, the iliac crest bone showed active bone remodeling and normal double-tetracycline labeling. We believe mast cells deserve further study as possible factors in this form of localized osteolysis.
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keywords = finger
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10/15. acro-osteolysis associated with hypertrophic pulmonary osteoarthropathy and pachydermoperiostosis.

    The authors report two cases of marked acro-osteolysis. One patient, a 16-year-old boy, had hypertrophic pulmonary osteoarthropathy associated with bronchiectasis, clubbing of the digits, synovitis, and osseous changes. The other patient, a 55-year-old man, had pachydermoperiostosis as well as synovial hypertrophy, clubbing of the digits, blepharitis, and a cataract. While the association of acro-osteolysis and pachydermoperiostosis has been reported before, this appears to be the first verified case of acro-osteolysis combined with hypertrophic pulmonary osteoarthropathy.
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ranking = 1165.378104464
keywords = osteoarthropathy
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