Osseous changes of osteopathia striata associated with cranial sclerosis

Association of cranial sclerosis with mixed osteopathia striata is a rare combination which has been proved recently to be an autosomal dominant entity. The present case, apparently sporadic in the kindred, records a further example of this association in a 27-year-old asymptomatic male.     

Osteopathia striata with cranial sclerosis affecting three family members

Skeletal surveys were performed on a 38-year-old Japanese mother, her son and daughter. The radiographs of both children showed characteristic features of osteopathia striata. However, in the mother, the skull, mandible, and lower extremities were homogeneously sclerotic with no evidence of a striated pattern of sclerosis in her skeleton. Additional features of striated sclerosis of the mandible in patients with osteopathia striata are discussed.     

骨斑点症的X线分析（附5例报告及文献复习）

目的分析骨斑点症的影像学表现。方法5例临床怀疑骨斑点症患者经头颅、胸部、肩关节、双肱骨、双尺桡骨、双手骨、脊柱、骨盆、双股骨、双胫、腓骨及足骨X线摄影检查，对全部患者的X线照片结合文献复习进行分析。结果病变以骨盆、腕骨、跗骨、指（趾）骨和长管状骨的骨骺及干骺端为好发部位，很少累及颅骨、肋骨、脊柱、胸骨、锁骨。病变呈对称性分布，以松质骨内0．2～1．5cm散在多发的大小不等的圆形或卵圆形致密阴影为特征，越靠近关节病灶越密集。结论骨斑点症是一种罕见的无临床症状的遗传性疾病，可依据其特征性X线表现进行确诊和鉴别诊断。     

Melorheostosis: a review of 23 cases

The aim of this study was to review clinical and radiological signs of melorheostosis in a large series of cases. Family history, patient history, clinical data and radiological features of 23 consecutive cases of melorheostosis were investigated. Criteria for establishing the diagnosis “melorheostosis” were defined. Sixteen patients (mean age 34 years, equal ratio between genders) had chronic pain in the affected limb(s) and/or subcutaneous fibrosis and/or various skin lesions. Number of involved bones: one bone (n = 10); two bones (n = 4); three or more bones (n = 9). Anatomic distribution: upper extremity (n = 5); lower extremity (n = 16); upper and lower extremity (n = 1); sacrum (n = 1). Radiologic pattern: osteoma-like (n = 7); classic candle wax appearance (n = 5); myositis ossificans-like (n = 1); osteopathia striata-like (n = 6); mixed pattern (n = 4). Patterns different from the appearance formerly judged to be “classic” prevail. The standard concept of disease manifestation has to be adjusted. Pathogenesis remains unclear. The classic theory claims the presence of an early embryonic infection of a sensory nerve inducing changes in the respective sclerotome, but we propose the concept of mosaicism as a better explanation for the sporadic occurrence, the asymmetric “segmental” pattern with variable extent of involvement and equal gender ratio of the disease. Received: 2 March 2000 Revised: 1 June 2000 Accepted: 6 June 2000     

Superficial angiomyxoma of the thumb: Report of a rare case and review of literature

We report a very rare case of a superficial angiomyxoma located at the thumb. A 41-year-old man presented with a painful, slowly growing mass at the distal phalanx of his swollen left thumb. There was a history of several, slight bleedings. Radiography revealed a spoon-like osteolysis, and MRI a soft-tissue mass of 1 cm size in diameter. Signal intensity was high in T2 weighted images, and low in T1 weighted images with a marked, but inhomogeneous contrast enhancement. Histopathology revealed sparse spindle-shaped fibroblasts and interstitial capillary vessels based on copious multilobular myxoid stroma forming nodules. Furthermore, there were aggregates of inflammatory cells, mainly neutrophils. Immunohistochemical staining was positive for vimentin. Only two reports of digital superficial angiomyxomas are found in the literature, and this case report is the first presentation of MRI findings of a superficial angiomyxoma.     

淋巴瘤样丘疹病1例并文献复习

目的：探讨淋巴瘤样丘疹病的病因、诊断和鉴别诊断、治疗及预后,以提高对该病的认识。方法对1例C型淋巴瘤样丘疹病的临床资料、组织病理、免疫荧光进行分析,并对相关文献进行分析。结果患者全身反复红斑、丘疹、水疱、结痂伴痒1个月余。皮肤科检查：躯干、四肢可见弥漫分布的米粒至黄豆大小的红斑、丘疹、水疱,部分皮损可见坏死、结痂。阴囊及阴茎部皮肤可见黄豆至钱币大小溃疡。全身未见明显脓疱,各关节及指趾甲未见明显异常。皮肤组织病理检查：表皮变性坏死,表皮下水疱形成,真皮内血管扩张,管壁纤维素样变性,血管周围见明显炎性细胞浸润,可见明显异型细胞及核丝分裂。免疫荧光检查：IgG (－)、IgM (－)、IgA (－)、C3(－)。抗酸染色阴性。免疫组化检查：真皮内浸润细胞表达CD3(+)、CD4(－)、CD8(+)、CD20(－)、CD30(+)、CD56(－)、Ki67(+＞50%)。T淋巴瘤克隆性基因重排（+）。诊断：C型淋巴瘤。结论淋巴瘤样丘疹病（lymphoma papulosis,LyP）是一种慢性复发性、自愈性皮肤丘疹、坏死、结节,临床结果良性、但组织病理上呈恶性表现的惰性皮肤淋巴瘤,属于皮肤CD30（+）淋巴增殖性疾病。其确切的发病机制还不清楚。治疗只能缓解症状,而不能阻止疾病的转归,目前还缺乏有效预防继发淋巴瘤的治疗方法,需长期随访监测并治疗继发性淋巴瘤。     

Peripheral venous aneurysms with recurrent pulmonary embolism: Report of a case and review of the literature

This clinical report deals with a femoral venous aneurysm as a source of recurrent pulmonary embolism. The literature concerning venous aneurysms is reviewed with emphasis on those cases which were complicated by venous thrombosis and pulmonary embolism. This case demonstrates that lower leg venous aneurysms can occur in either sex and in different age groups. Venography was shown to be important in diagnosing these lesions. Surgical resection may be necessary to prevent potential thrombosis and life-threatening pulmonary embolism. Statement. The views expressed in this paper are those of the authors and do not necessarily reflect the views of the United States Air Force or the Department of Defense.—Lee H. Greenwood. M.D.     

A case of melorheostosis with a 14-year follow-up

Melorheostosis is a benign sclerosing dysplasia with a very unusual and characteristic roentgenographic appearance. We reported a patient with melorheostosis in the left lower extremity followed up for 14 years. Although the extraosseous lesions only slightly enlarged, the bone scintigraphy showed the activity of the metabolism to be still high.     

Hematoma in the cervical ligamentum flavum. Report of a case and review of the literature

Hematoma of the cervical ligamentum flavum is very rare, and its pathogenesis is unknown. We describe a case of ligamentum flavum hematoma in the cervical spine causing severe myelopathy. Postoperative histological examination suggested it was the result of the rupture of a hemangioma or of an arteriovenous malformation in the ligamentum flavum. After removal of the lesion, the patient’s condition immediately improved. Review of all three reported cases, including this one, showed that complete resection of the mass resulted in immediate relief of symptoms of incomplete paraplegia. The findings of magnetic resonance imaging (MRI) of the hematoma may vary with time, and they may show no characteristic intensity. However, MRI of this case revealed that the tissues surrounding the mass were enhanced with gadolinium diethylene triamine penta-acetic acid, and an area of homogeneous iso-intensity was clearly surrounded by a low-intensity area (flavum) on T2-weighed short-tau inversion recovery images. These findings could be characteristic of the ligamentum flavum hematoma and might help in the differentiation from a cervical epidural hematoma.     

Shotgun pellet embolization to the intracranial internal carotid artery: Report of a case and review of the literature

We report a patient with the angiographic diagnosis of embolization of a shotgun pellet from its presumed left internal carotid artery entry site to the ipsilateral intracranial internal carotid artery. Subsequently, a left middle cerebral artery territory infarct developed. Review of the literature reveals 30 previous reports of intracranial embolization of metallic missile fragments. Observations of patient demographics, foreign body type, embolization patterns, neurologic deficits and presentations, and patient evaluation and therapy are discussed.     

Adenomyomatous polyp of the uterus: Report of an autopsy case and review of the literature

Adenomyomatous polyps of the endometrium are a rare subtype of endometrial polyps. In addition to the usual features of endometrial polyps, they also contain a smooth muscle component. Grossly they appear no different than ordinary endometrial polyps. In the case reported herein, a 23-year-old nulliparous female was killed in a traffic accident. In the course of the medicolegal autopsy, a small pedunculated growth was identified in the fundus of the endometrial cavity. Histologically the mass consisted of endometrial glands intimately mixed with smooth muscle and thick walled blood vessels, consistent with an adenomyomatous polyp. There was no history of tamoxifen use in this individual. To our knowledge this is the first report of post-mortem diagnosis of an adenomyomatous polyp. Furthermore, this is the first report of an individual with this diagnosis younger than the fourth decade. In the medicolegal setting, forensic pathologists are constantly faced with entities that, while they may not have caused death, may serve to educate practitioners about rare lesions. This individual's finding serves as one of those entities. This case reiterates the importance of the autopsy as not only the answer to an individual's death, but as an avenue for the discovery of entities that may have relevance to those who are still living.     

肾嗜酸粒细胞腺瘤1例报告并文献复习

目的研究肾嗜酸细胞腺瘤（RO）的CT表现。方法1例44岁女性经病理组织学证实为RO患者，继X线胸片，腹部彩色多普勒超声及实验室检查后又经腹部CT平扫与增强扫描。RO的CT表现是结合文献复习分析的。结果CT平扫证实，在右肾下极背侧实质内有一大小约2．4cm×2．2cm的低密度区，边缘清楚，边缘密度高于中央密度。增强扫描皮质期，病灶边缘明显强化，中央呈片状轻度强化，实质期病灶边缘密度减低，中心部位强化伴低密度无强化区，肾盂期病灶边缘密度仍较低，对比剂逐渐向中央填充并呈轻度强化伴缩小的低密度区。结论RO虽然具有某些CT强化特征，但确诊需依据穿刺活检或术后病理。     

Hepatic endometrioma: a case report and review of the literature

Extrapelvic endometriosis is not uncommon but hepatic endometrioma is extremely rare. Ultrasound, CT and MR features of hepatic endometrioma are discussed and the literature is reviewed in this report. Received: 6 July 1998; Revision received: 4 May 1999; Accepted: 21 June 1999