Mixed sclerosing bone dystrophy with features resembling osteopoikilosis and osteopathia striata

Summary A 64-year old man, presenting pain in his back and left sciatalgia, was found to have a mixed sclerosing bone dystrophy with features resembling osteopoikilosis and osteopathia striata. Oval and round densities were found in the humeral heads, elbows, wrists, hands, pelvis, knees, feet. Striata densities were in the diaphyses of metacarpal and metatarsal bones. Bone scan was negative. Standard biochemical examinations of the blood and urine were negative. According to our investigations no evidence of osteopoikilosis other sclerosing bone dystrophies were found in the family of our patient. These data were discussed.     

骨斑点症1例

患者男,23岁,5年前因右侧大腿下段皮肤结节状纤维组织增生(犹如瘢痕疙瘩)行手术治疗,现感其局部不适而来院检查.X线检查:右股骨远段干骺端松质骨小梁清晰粗大,骨皮质下可见散在的多个0.2～1.2 cm大小不等,呈圆形、卵圆形、索条形或不规则的斑点状致密阴影,其中少数斑点状病灶与骨皮质相连,少数零星斑点于松质骨内,长轴与骨小梁平行,未见骨质破坏(见图).     

骨斑点症影像诊断(附1家族4代6例和散发3例报告)

目的 :分析骨斑点症的影像学表现及其诊断要点。方法 :回顾性分析9例骨斑点症患者的临床及影像学资料,其中家族性病例6例,散发性病例3例。家族性病例中,男4例,女2例,年龄10~63岁,平均28岁;1例临床表现为左膝关节疼痛、活动受限3年,5例无临床症状。散发性病例中,男2例,女1例,年龄25~44岁,平均33.7岁;3例均有明确的外伤史,随访6~12个月。观察9例患者的影像学结果。结果:6例家族性骨斑点症影像学表现为骨内多发边缘清晰、密度均匀的圆形、类圆形的致密结节,大小不一,发好于管状骨的干骺端、骨骺及腕骨、跗骨。3例散发性骨斑点症的影像学表现与家族性病例相仿,6~12个月后复查X线片示病灶无明显变化。结论:骨斑点症的典型影像学特征,如骨内多发斑点状致密灶,边界清楚,双侧基本对称,病灶位于骨端松质内,骨干通常不受累等,对疾病的正确诊断有一定的临床价值。     

Clinical features of ten cases of osteopoikilosis

A retrospective study was carried out of the ten cases of osteopoikilosis seen at this Orthopedic Unit over a 15-year period in order to determine the reasons why patients seek consultation, preliminary diagnosis, and associated lesions. Eight patients consulted for problems not related to the locomotor apparatus, and diagnosis was by chance; the other two presented joint pain. The preliminary diagnosis was osteoblastic metastasis in five patients and osteopoikilosis in the other five. None of the patients displayed skin or visceral involvement, but three presented bone alterations. Definitive diagnosis was made by measurement of biochemical markers of bone remodeling, radiography of both hands, and bone scan. Bone biopsy was performed in one case. Although rare, the radiographic symptoms of osteopoikilosis are sufficiently specific to avoid false diagnoses, which may give rise to rigorous and expensive studies for other important disorders.     

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。     

Case report of a patient with osteopoikilosis

Osteopoikilosis (OPK) is a benign osteosclerotic dysplasia of unknown origin, which is an inherited autosomal disorder. Males and females are equally affected. It is usually asymptomatic and may only be recognized on radiological examination. In this study we report a 33-year-old woman with fibromyalgia who suffers from back and leg pain and was diagnosed OPK by radiologically and review literature.     

Buschke-ollendorff syndrome in a grande multipara: A case report and short review of the literature

A 36-year-old short-statured grande multipara (gravida 10, para 8) with diabetes mellitus and hyperlipidaemia was incidentally found to have Buschke-Ollendorff syndrome (osteopoikilosis and dermatofibrosis lenticularis disseminata). The pelvis and hips, followed by the knees, were the sites mainly affected by the osteopoikilosis. The lumbosacral spine was also affected. She had a single connective tissue naevus on the right thigh. Apart from two abortions, the repeated pregnancies were uneventful and all her deliveries were normal at full-term or nearly full-term. With regard to the relationship between Buschke-Ollendorff syndrome and multiparity, it was apparent that multiparity did not affect the involved weight bearing bony structures, nor did the disseminated osteopoikilosis interfere with the endurance of multiple pregnancies. Buschke-Ollendorff syndrome is known generally to have a benign course, a feature that is illustrated in this case, even when associated with the stresses of multiparity. The report also provides a short and updated review of various clinical aspects of the syndrome and its associations, some of which are of a serious nature.     

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.