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An unusual case of multicentric/multifocal osteolysis with unique clinical and radiographic features in a 17-year-old girl is reported. The brother of the patient who was probably also affected could not be examined.
Hajdu-Cheney syndrome which is also known as type VI idiopathic osteolysis is a rare disease transmitted autosomal dominantly. In this syndrome, osteolysis involves primarily the terminal phalanges. We describe here a 18-year-old boy with typical clinical and radiological signs of Hajdu-Cheney syndrome.
We present a child with a rapidly growing mass and lytic skull lesion that on pathologic evaluation was diagnosed as cranial fasciitis. This disease entity is not widely known by radiologists, and should be included in the differential diagnosis of lytic skull lesions.
Gorham's disease may develop in any region of the skeleton, but shows a predilection for the bones of the shoulders and pelvic girdles. Less frequently, the disease may involve the spine, and it is the proximity to the spinal cord which may worsen the patient's outcome. We report the clinical outcomes of two children with typical, yet differently localized involvement, and also review the plain film, CT and MRI findings.
Two cases of Gorham's disease (massive osteolysis, idiopathic osteolysis, vanishing bone disease) involving the thoracic skeleton are reported. Both patients were adolescent females with involvement of multiple ribs. Involvement of the thoracic spine and pleural effusions--unusual manifestations carrying a poor prognosis--were also present. The radiographic and computed tomographic appearances are included with discussion and review of this disease entity.
The case of a 13-year-old girl with striking carpal and tarsal osteolysis (sporadic occurrence) is reported. MRI confirmed the total absence of carpal bones and medial tarsal bones. Dense fibrocollagenous tissue replaced the spaces left by the resorbed bones. Arteriography showed occlusion of the radial artery at the level of the physis of the distal radius with increased tortuosity of the ulnar artery. There was no major vascular occlusion in the foot except for some indistinct and blurred tarsal branches of the anterior tibial artery.
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We describe a patient with the typical features of Hajdu-Cheney Syndrome. The previously undescribed cranial computerised tomographic (C.T.) findings in this condition are discussed. In addition we describe a possible association with bowel malrotation.
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A confusing early "benign" appearance which preceded subsequent radiographic progression of a case of massive osteolysis is presented. Proof of Gorham's disease was obtained by open biopsy of the left femur in this 21-year-old woman who presented with an unusual cortical lesion in the femoral shaft. The lesion initially was subtle in its radiological features but progressed considerably over a 2-year period before biopsy was undertaken.
Previous investigations have suggested that a lower-than-normal serum 1,25(OH)2D is found in elderly women with postmenopausal osteoporosis. We examined the fundamental aspects of this theory by investigating serum vitamin D metabolites in four representative samples of Caucasian women. These included 44 early postmenopausal women divided into two subgroups: fast bone losers, that is, bone loss greater than 3%/year (n = 20), and "physiological" bone loss (n = 24); and 28 70-year-old women divided into two subgroups: with and without osteoporotic fractures. Serum 1,25(OH)2D concentrations were virtually the same in all groups thus contradicting the previous reports of low 1,25(OH)2D in elderly women. Furthermore, mean 25OHD and 24,25(OH)2D did not differ between the groups. We conclude that 1,25(OH)2D is unlikely to be significant in the development or treatment of a majority of women with postmenopausal osteoporosis.
It is proposed that there are two structurally different forms of bone loss with different rates, cellular mechanisms, and biomechanical effects. Rapid bone loss is the result of excessive depth of osteoclastic resorption cavities. This leads in trabecular bone to perforation of structural elements, increased size of marrow cavities, and discontinuity of the bone structure, and in cortical bone to subendosteal cavitation and conversion of the inner third of the cortex to a trabecularlike structure, which then undergoes the same changes as the trabecular bone originally present. These structural characteristics reduce the strength of the bones to a greater extent than the reduction in the amount of bone by itself would suggest. Slow bone loss results from incomplete refilling by osteoblasts of resorption cavities of normal or reduced size. This leads to simple thinning of residual structural elements in both trabecular and cortical bone, and reduces the strength of the bones in proportion to the reduction in the amount of bone. This concept, although derived mainly from an examination of postmenopausal bone loss, may be applicable to other osteopenic states. At the same time as bone loss is occurring on the endosteal surface, rapidly or slowly, bone is being added to the periosteal surface, but much more slowly than during growth. The cellular mechanism is the converse of that causing slow bone loss, consisting of slight overfilling of shallow resorption cavities. Slow periosteal gain serves to partly offset the structural weakness resulting from endosteal loss, but is not directly compensatory.(ABSTRACT TRUNCATED AT 250 WORDS)
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Acro-osteolysis with diffuse osteoporosis in the absence of other associated diseases is named Hajdu-Cheney syndrome. Reduced bone formation rather than enhanced bone resorption has been indicated as the mechanism of osteoporosis. On the assumption that in this syndrome the active bone resorption which produces distal osteolysis must also predominate in generalized osteoporosis, we investigated bone histology, calcium kinetics, calciotropic hormones and bone markers in a patient suffering from sporadic Hajdu-Cheney syndrome. A radius bone biopsy taken far from the osteolytic lesions showed severe osteoporosis with a marked increase in osteoclastic bone resorption and reduced bone formation. Total body calcium clearance, performed through an analysis of the kinetics of calcium infusion, was 2.8 times higher than in normal controls, indicating the presence of active osteoclastic bone resorption. Serum parathormone, 1,25-dihydroxycholecalciferol, alkaline phosphatase and urinary hydroxiproline were in the normal range. These data indicate that in Hajdu-Cheney syndrome trabecular osteoporosis is produced by the same mechanism that induces distal osteolysis, which suggests that it may be sustained by local acting factors stimulating osteoclastic resorption.
A case of painless destruction of the shoulder joint is reported for its rarity and unusual presentation as a neuroarthropathic joint with no evidence of neurological disease. A differential diagntosis of Gorham-Stout syndrome and avascular necrosis was discussed.
Gorham's disease is a rare disorder characterized by a non-malignant proliferation of thin-walled lymphatic vessels that result in progressive bony destruction and often extend into the surrounding soft tissues. Chylothorax is a common complication in cases of mediastinal involvement. Here we report a case of a 22-year-old male with Gorham's syndrome complicated by chyloma of the chest wall, but without chylothorax. To our knowledge, this is the first report demonstrating an abnormality of the parietal pleura prior to the clinical development of the chylothorax.
Massive osteolysis Gorham-Stout is a rare, benign but locally aggressive angiomatosis which results in destruction and resorption of bone. The etiology and pathogenesis are undefined. The occurrence of the disease in the skull base is uncommon. A 54-year-old female presented with isolated, one-sided surditas. Eight years before the patient underwent surgery and radiation therapy for treatment of hypopharyngeal cancer. A transtemporal biopsy was taken and a highly vascularized, cystic lesion with destruction of the right occipital and temporal bone and the atlas was found. Histopathology showed thin-walled capillaries with flattened endothelial lining cells. After exclusion of malignant and infectious components the diagnosis of Gorham's disease was established. Review of the literature suggests radiation therapy as the method of choice for stopping the disease's progress. The aim of this case report is to emphasize the Gorham-Stout-Syndrome as a rare differential diagnosis for skull base lesions.