| We describe a 19-year-old woman with melorheostosis and osteopoikilosis (mixed sclerosing bone dysplasia). Her sister and mother had osteopoikilosis, but no evidence of melorheostosis. Isolated melorheostosis and melorheostosis with osteopoikilosis are sporadic disorders. osteopoikilosis is an autosomal dominant trait. Mixed sclerosing bone dysplasia in a family with autosomal dominant osteopoikilosis raises the possibility that the two bone disorders may be related. This family and that of Butkus et al. [1997: Am J Med Genet 72:43-46] suggest that the melorheostosis could be due to a second mutation at the same locus as that which causes autosomal dominant osteopoikilosis. ( info) |
2/50. radiology case of the month. Abnormal bone survey in a cancer patient. osteopoikilosis. A 34-year-old woman presented with a history of thyroid carcinoma who underwent a radiographic bone survey in search of metastatic disease. ( info) |
| osteopoikilosis is a rare, inheritable, sclerosing bone dysplasia; sometimes mistaken for osteoblastic bone metastases. We report a case in a 25 year-old lady. ( info) |
4/50. Buschke-Ollendorff syndrome--differential diagnosis of disseminated connective tissue lesions. We report a 5-year-old boy presenting with multiple elastic type nevi and osteopoikilosis who was diagnosed as having Buschke-Ollendorff syndrome at an early age. connective tissue lesions may present as the main symptom of varying clinical entities with different outcomes. Differential diagnosis includes papular elastorrhexis, fibroelastolytic papules of the neck, papular acne scars, and late onset focal dermal elastosis. Rare genodermatoses, i.e. Buschke-Ollendorff syndrome, pseudoxanthoma elasticum, juvenile hyaline fibromatosis and familiar cutaneous collagenoma should be carefully evaluated to provide appropriate genetic counseling and to avoid unnecessary treatment procedures. ( info) |
| Buschke-Ollendorf syndrome and nail-patella syndrome are both rare connective tissue disorders inherited in an autosomal dominant pattern and characterized by cutaneous and bone lesions. We describe a 3-year-old boy and his family who showed clinical features of both Buschke-Ollendorf syndrome and nail-patella syndrome. To our knowledge, this association has not been reported previously, suggesting that these two connective tissue disorders may share the same gene location with different mutations or involve different mutated genes that share downstream segments of their signaling pathways. Furthermore, this young patient is also affected by a chronic idiopathic neutropenia usually not observed in Buschke-Ollendorf syndrome or nail-patella syndrome. ( info) |
| osteopoikilosis is an uncommon benign sclerosing bone dysplasia. Herein we present a case of osteopoikilosis with characteristic roentgenographic findings and clinical findings of cervical myelopathy. The importance of the differential diagnosis in symptomatic cases of osteopoikilosis is emphasized with the review of the literature. ( info) |
7/50. Coexistence of osteopoikilosis and discoid lupus erythematosus: a case report. osteopoikilosis is an uncommon, benign sclerosing bone dysplasia characterised by typical roentgenographic findings and usually seen in patients with dermatological problems. We report a case of osteopoikilosis and discoid lupus erythematosus presenting with skin and mucosal involvement, an association that has never previously been reported. We also discuss the differential diagnosis and the clinical pathologies accompanying osteopoikilosis in the literature. ( info) |
8/50. Papular elastorrhexis: a distinct variant of connective tissue nevi or an incomplete form of Buschke-Ollendorff syndrome? Papular elastorrhexis is a rare entity, possibly a form of multiple elastic tissue naevi. The cutaneous lesions in this disorder are characterized by multiple white papules usually occurring on the trunk. These tend to be nonfollicular and scattered evenly over the affected area. Histopathologically, there is a decrease of elastic fibres, that may also appear thin and fragmented. Most reported cases are sporadic but familial occurrence has been described and some authors believe that papular elastorrhexis may represent a mild form of Buschke-Ollendorff syndrome. We report an 18-year-old woman whose clinical and histopathological features were compatible with papular elastorrhexis. There was no evidence of skeletal changes or relevant family history. ( info) |
| A case of metastatic lobular carcinoma of the breast in conjunction with osteopoikilosis is described. Widespread diffuse sclerotic bone lesions were identified on radiographs in a patient with breast carcinoma. In addition computed tomography demonstrated discrete spherical areas of increased density throughout the skeleton manifest typically by osteopoikilosis. No systemic symptoms were evident, blood parameters were normal and the lesions did not demonstrate any increased uptake of technetium on bone scan. An iliac crest bone biopsy, however, revealed metastatic disease in addition to osteopoikilosis. Conventional radiological investigations may not delineate metastasis on a background of bone dysplasia. ( info) |
10/50. Mixed sclerosing bone dysplasia--a case report with literature review. We report a case of mixed sclerosing bone dysplasia in a 26-year-old man. This is a very rare disorder characterized by a variable combination of melorheostosis, osteopoikilosis and osteopathia striata. The disease may be generalized or may show unilateral involvement. ( info) |