We report a case of primary osteosarcoma of the breast which is rare and exhibits poor prognosis. A 52 years-old-woman was admitted with rapidly growing right mammary mass. A huge lobulated dense mass with speckled calcifications, suggesting malignancy, was observed on mammography. She underwent a radical mastectomy. Grossly, the mass measured 16 14 6 cm and showed grayish white hard lobulated tissue with focal hemorrhage and necrosis. Light microscopically, the tumor was confirmed as an osteosarcoma devoid of any epithelial components. In postoperative whole body bone scan, there was no evidence of the other malignancy. To the best of our knowledge, the present case is the first report of primary osteosarcoma of the breast in Korea.
Breast* ; Hemorrhage ; Korea ; Mammography ; Mastectomy, Radical ; Necrosis ; Osteosarcoma* ; Prognosis

Congenital epulis of the newborn refers to a very rare gingival tumor that occurs along the anterior alveolar ridge in newborn infants. We report a neonate with 3*2*1.5cm mass protruding from the mouth. This was a pinky, red solid pedunculated mass, attached to the maxillar left canine region of the alveolus at birth. The tumor's large size partially obliterated the oral cavity and caused oral feeding difficulty but did not cause respiratory problems. We described the postnatal MR imaging findings, electromicroscopic, histochemical and immunohistochemical studies of this tumor in order to search for the histogenesis of the tumor. In our case, histochemically, individual tumor cells contained numerous PAS positive cytoplasmic granules. Immunohistochemically, strong and diffuse cytoplasmic staining for vimentin and NSE was observed. Staining with S-100 protein, cytokeratin, desmin, CEA, factor VIII-related antigen, lysozyme, EMA were negative. After total excision of the lesion in our case, we had no complication or recurrence either early or late(up to one year).
Alveolar Process ; Cytoplasm ; Cytoplasmic Granules ; Desmin ; Gingival Neoplasms* ; Humans ; Infant, Newborn* ; Keratins ; Magnetic Resonance Imaging ; Mouth ; Muramidase ; Parturition ; Recurrence ; S100 Proteins ; Vimentin ; von Willebrand Factor

Hereditary progressive dystonia develope in the first decade of ?life and is characterized by marked diurnal fluctuation of symptoms(dystonic postures and movements), i.e.symptoms aggrevated towards evening and alleviated after sleep. These symptoms and signs responded dramatically to levodopa. With the high incidence of familial cases this disorder is considers to be hereditary, but inheritance is not clear yet. Segawa regarded this disorder as a dystonia different from Parkinson's disease and other types of dystonic movement disorders, thereafter it has been reported under name of hereditary progressive dystonia with marked diurnal fluctuation.
Dystonia* ; Incidence ; Levodopa ; Movement Disorders ; Parkinson Disease ; Posture ; Wills

Paroxysmal choreoathetosis(dyskinesia) is classified into two subtypes: paroxysmal kinesigenic choreoathetosis(PKC) and paroxysmal dystonic choreoathetosis(PDC). PDC consist of attacks of dystonia and /or choreoathetosis during which the patients are dysarthric or anarthric, have irregular clonic movement and dystonic posturing of extremities, and these not precipitated by sudden movement but rather by alocohol, coffee and stress. Attacks are longer (2ninute-4hours), but less frequently(3-4times/day) than PKC, they are not responsive to anticonvulsants(eg, phenytoin, carbamazepine) but controlled by clonazepam.This disease is rare, in the reported families, the transmission was clearly autosomal dominant with high penetrance.
Coffee ; Dystonia ; Extremities ; Humans ; Penetrance ; Phenytoin

The Os odontoideum is a developmental anomaly of the axis in which the odontoid process is divided transversely. The Atlanto-axial dislocation due to Os odontoideum is presented. At first, we have performed the posterior atlanto-axial fusion with wire fixation. But the posterior fusion failed in realignment and did not adequately decompress the deformed cord by encroachment on its ventral surface. Next time, we have experienced further improvement following transoral decompression and anterior fusion.
Axis, Cervical Vertebra ; Decompression* ; Dislocations* ; Odontoid Process

The appearance of a tumor in the chest wall is rare compared to that in any other part of the body. It can be classified into benign and malignant types and can be located in the rib, clavicle, sternum, cartilage and soft tissues. Tumors that are metastatic are commonly located in the lung, breast, bone and pleura. But, the soft tissue mass of anterior chest wall is rarely metastasized from a distant organ that is not confined to the thoracic cavity. This and thus has rarely been described. A 68-year-old man was admitted to our hospital with a chief complaint of resting dyspnea. A huge non-tender mass of about 10*15 cm in size was visible on his left lower anterior chest wall. We pathologically confirmed that the mass was a metastatic renal cell carcinoma of clear cell type by incision biopsy. Through an incision biopsy, the mass was pathologically confirmed as a metastatic renal cell carcinoma of the clear cell type.
Aged ; Biopsy ; Breast ; Carcinoma, Renal Cell* ; Cartilage ; Clavicle ; Dyspnea ; Humans ; Lung ; Neoplasm Metastasis* ; Pleura ; Ribs ; Sternum ; Thoracic Cavity ; Thoracic Wall* ; Thorax*

46,X,inv(Y)/45,X mosaicism is a extremely rare sex chromosomal disorder. We experienced an unusual mosaic Turner syndrome case in a 29-years old Korean woman with a phenotypic female, primary amenorrhea and immature secondary sexual characteristics. Cytogenetic analysis including GTG banding revealed 46,X,inv(Y)(q11.2q12?)[15]/45,X[35] mosaicism, and X/Y chromosome Fluorescence in situ hybridization (FISH) analysis result was ish (SRY-,DYZ3-)[16]/ ish der(Y)del(Y)(q12)inv(Y)(p11.3q12)(SRY sp, DYZ3-)[4] and its meaning was coexistence of microdeletion and inversion of Y chromosome. To our knowledge, this karyotype may be a very rare variant of Turner syndrome, and we report this case with brief review of related literature.
Adult ; Amenorrhea ; Chromosome Disorders ; Cytogenetic Analysis ; Female ; Fluorescence ; Humans ; In Situ Hybridization ; Karyotype* ; Mosaicism ; Turner Syndrome* ; Y Chromosome*

Clear cell sarcoma(CCS) is an uncommon soft tissue sarcoma that occurs in tendons and aponeuroses, usually of the lower extremities and is believed to be of neural crest origin that have a capability to produce melanin. These tumors commonly metastasize and have a very poor prognosis. The fine needle aspiration cytologic finding of CCS is not well documented. We recently experienced a case of CCS. The patient was a 54-year-old male with painful swelling of the right inguinal area. Fine needle aspiration cytology revealed polygonal or fusiform tumor cells with clear or granular cytoplasm and vesicular nuclei containing one or two nucleoli. Im munohistochemical staining for S-100 protein and HMB-45 revealed strong positivity, and variable developing stages of premelanosomes were observed by electron microscopy in the excised specimen.
Biopsy, Fine-Needle* ; Cytoplasm ; Humans ; Lower Extremity ; Male ; Melanins ; Microscopy, Electron ; Middle Aged ; Neural Crest ; Prognosis ; S100 Proteins ; Sarcoma ; Sarcoma, Clear Cell* ; Tendons

A 57-year-old woman developed an inflammatory carcinoma in her left breast next to the spot of a silicone injection that had been used for augmentation some 20 years previously. She underwent a modified radical mastectomy with an axillary lymph node dissection. There have been relatively few cases reported in the literature that have noted breast cancer associated with silicone injections. During physical examinations, such breasts are frequently firm, tender, painful, and inflamed. Far more important, in silicone-injected breasts, carcinomas become more difficult to detect by physical examination, mam mography, and other known methods. Although no causal relationship between silicone and breast carci nomas is implied, a heightened awareness of the possible coexistence of silicone mastopathy and a breast carcinoma is necessary.
Breast Neoplasms* ; Breast* ; Female ; Humans ; Lymph Node Excision ; Mastectomy, Modified Radical ; Middle Aged ; Noma ; Physical Examination ; Silicones*

A 57-year-old woman developed an inflammatory carcinoma in her left breast next to the spot of a silicone injection that had been used for augmentation some 20 years previously. She underwent a modified radical mastectomy with an axillary lymph node dissection. There have been relatively few cases reported in the literature that have noted breast cancer associated with silicone injections. During physical examinations, such breasts are frequently firm, tender, painful, and inflamed. Far more important, in silicone-injected breasts, carcinomas become more difficult to detect by physical examination, mam mography, and other known methods. Although no causal relationship between silicone and breast carci nomas is implied, a heightened awareness of the possible coexistence of silicone mastopathy and a breast carcinoma is necessary.
Breast Neoplasms* ; Breast* ; Female ; Humans ; Lymph Node Excision ; Mastectomy, Modified Radical ; Middle Aged ; Noma ; Physical Examination ; Silicones*