原发性肥大性骨关节病一例并文献复习

目的 提高临床医生对原发性肥大性骨病的认识.方法 报道1例原发性肥大性骨病,对其患者的临床表现、实验室和辅助检查以及诊治过程进行回顾性分析,并进行疾病相关文献复习.结果 患者为男性,无家族史,发病年龄16岁;有杵状指(趾)、皮肤增厚、关节肿胀和多汗,X线示骨皮质增厚、骨膜增生,符合肥厚性骨关节病的诊断;应用少量非甾体抗炎药治疗后关节肿胀症状很快缓解.结论 青少年男性出现杵状指(趾)、皮肤增生等表现,应及时进行骨骼x线检查,如有骨皮质增厚,可确定原发性肥大性骨关节病的诊断.     

杵状指和肥大性骨关节病的基本机理

杵状指是手(足)指(趾)末端软组织无痛性均匀肿胀,而肥大性骨关节病(以下简称HOA)是骨和关节骨膜增生产生的X线改变。杵状指在青紫型先天性心脏病普遍存在,在隐源性纤维素性肺泡炎、亚急性细菌性心内膜炎和原发性胆汁性肝硬化也常见;而HOA在上述疾病中则很少见,主要多见于肺周围型鳞状细胞癌和胸膜纤维瘤,可以单独发生而无杵状指,二者虽有很多相同点但可认为是两种不同性质的改变。     

探秘杵状指——严重心肺疾病症状之一

杵状指亦称鼓棰指,表现为手指或足趾末端组织增生、肥厚、呈杵状膨大称为杵状指。其特点为末端指(趾)节明显增宽增厚.指(趾)甲从根部到末端呈拱形隆起,使指(趾)端背面的皮肤与指(趾)甲所构成的基底角等于或大于180°。杵状指是医学生们最先认识的     

杵状指与肥大性骨关节病

杵状指(趾)主要发生于成人,常见于许多原发疾病,包括肺部腺癌及表皮样癌、慢性肺部疾病(在儿童中,特别是囊性纤维变)、胆汁性肝硬化、溃疡性结肠炎、局限性肠炎、垂体及甲状腺疾病、先天性紫绀型心脏病及细菌性心内膜炎等。还有一种遗传性杵状指,呈性限常染色体显性遗传,女性外显率低。获得性杵状指,特别是见于肺癌者,可突然发生,常伴有关节周围及骨质增生(骨膜炎)所致的疼痛、压痛及肢体远端肥大,并有急性多关节炎,可误诊为类风湿性关节炎。关节症状可在骨膜改变和杵状指之前     

厚皮性骨膜增生症

厚皮性骨膜增生症是一种累及皮肤和骨膜的罕见遗传病.对除外心肺疾病、肿瘤等继发因素所致的伴有杵状指(趾)、皮肤增生及骨膜新骨形成的年轻男性患者应考虑厚皮性骨膜增生症的诊断.     

HPGD突变导致罕见的以杵状指趾为主要表现的原发性肥厚性骨关节病家系研究

目的调查2例以不明原因杵状指趾为主要表现的儿童患者的临床特点,并对患者及其家系进行致病基因突变研究。方法纳入2例以杵状指趾为主要表现的女性患儿,详细询问病史,评估患者骨骼影像学特点,测量骨代谢生化指标及骨密度,筛查杵状指趾相关的继发原因,采用Sanger直接测序法检测HPGD基因突变。结果先证者及其妹妹均在出生6个月后逐渐出现杵状指趾及掌跖多汗,先证者有先天性动脉导管未闭病史。两例患者均无面部皮肤增厚及关节肿胀,X线片未见骨膜增厚等异常表现。2例患者骨吸收指标和骨密度在性别、年龄匹配的正常范围,临床未检出导致杵状指趾的其他疾病。基因检测提示两患者存在HPGD基因第3外显子c.310_311del CT和第3内含子c.324+5GA的复合杂合突变,其父母亲分别为上述突变的携带者,提示患儿罹患原发性肥厚性骨关节病(primary hypertrophic osteoarthropathy,PHO)。结论PHO为罕见的遗传性疾病,常呈常染色体隐性遗传,女性患者可能表现不典型,疾病早期可仅有杵状指趾的表现,容易漏诊。检测HPGD等PHO致病基因突变,有助于提高PHO的诊断水平。     

厚皮性骨膜病一例报告

厚皮性骨膜病(pachydermoperiostosis)亦称特发性肥大性骨关节病(idiopathic hypertrophic osteoarthropathy),或称Tourain-Solente-Gole综合征。此病少见,我院曾收治一例,报告如下: 男性,20岁,住院号231568。因皮肤增厚、肢端肥大4年入院。体检所见:头皮肥厚呈沟回状,面部皮肤肥厚,前额皮肤皱折粗大,鼻唇沟明显加深。满面油光,皮肤多汗,手足粗大,指趾末节增粗呈杵状,两踝关节肿大,前臂和小腿远端明显增粗呈柱状。实验室检查:尿糖(-)。空腹血糖、     

厚皮性骨膜病1例并文献复习

厚皮性骨膜病（pachydermoperiostosis,PDP）是一种罕见的良性疾病,病因未明。其临床特点为杵状指（趾）、骨膜新骨形成、皮肤增厚、回状头皮、皮肤溢脂、痤疮、关节肿胀疼痛及手足多汗等。现将我院最近诊断的1例PDP报告如下。 1临床资料 患者男,23岁,未婚。因肢端肥大10余年,双膝肿大伴四肢乏力7个月入院。患者诉10岁始无明显诱因出现四肢肢端无痛性进行性肥大。近一年来上症加重,肢端肥大明显。     

表现为发热、四肢关节疼痛、杵状指(趾)的心脏恶性纤维组织细胞瘤一例

患者男,42岁。因发热、四肢关节疼痛2·5年,杵状指(趾)2年,胸闷、气促20天入院。于入院前2年半无明显诱因下出现发热伴双踝关节疼痛。此后,发热持续存在,体温波动于37·5~40℃,并逐渐出现四肢关节疼痛伴双腕、踝关节红肿,经多种抗生素治疗无效,但服解热镇痛药或物理降温可使上述症状减轻。约半年后出现四肢末节指(趾)间关节青紫及杵状指(趾)。曾在多家医院就诊,考虑肺癌的肺外表现及类风湿性关节炎,多项免疫指标及X线胸片、胸部CT、纤维支气管镜、肺灌注扫描等检查均正常,诊断仍不明,上述症状依旧。1年2个月后(2002年10月)在某医院行心脏…     

厚皮性骨膜增生症1例

患者男性,39岁.因胃溃疡就诊,检查见双手足有显著的杵状指趾,中指末端宽达2.2cm,姆趾宽达4.5cm,指甲面积也显著增大,且呈手表玻璃样隆起.头部皮肤增厚,鼻唇沟较深.经体检,X 线胸片,心电图,M 型二维和多普勒超声心动图、以及血气分析检查,均未见     

Clubbing and hypertrophic osteoarthropathy

Acquired clubbing of the digits and hypertrophic osteoarthropathy are closely related disorders of unknown etiology that derive special significance from their frequent association with serious underlying diseases of the thorax or abdomen. Most importantly, clubbing or HOA may provide the first clinical indication of a chronic infection or an intrathoracic neoplasm. However, clubbing is easily overlooked on physical examination, and hypertrophic osteoarthropathy is often mistaken for some other disorder. The diagnosis of clubbing is based on the finding of an increase in the soft tissue at the base of the finger or toenails. Of the several objective criteria that have been proposed for the diagnosis of digital clubbing, the best documented and most practical is an increase in the ratio of the distal phalangeal depth (DPD) to the interphalangeal depth (IDP) of the index finger to 1.0 or greater. Hypertrophic osteoarthropathy is characterized in advance cases by the combination of digital clubbing, periostitis of the long bones, arthritis-like changes in the knees, elbows, ankles, and wrists, and swelling of the soft tissues in the distal extremities. Bone scintigraphy has emerged as the most sensitive test for HOA; in fact, a bone scan may show evidence of periostitis in patients with no other signs, symptoms, or radiographic abnormalities of the disorder. The symptoms of HOA respond to anti-inflammatory agents, and to ablation or cure of the underlying disorder.     

原发性肥大性骨关节病(附一例报告)

目的 提高对原发性肥大性骨关节病的认识。方法 报告１例原发性肥大性骨关节病的临床表现、实验室检查、Ｘ线改变及皮肤透射电镜改变,并复习文献。结果 总结原发性肥大性骨关节病的病理生理改变、临床特点、诊断标准、治疗手段及预后。结论原发性肥大性骨关节病为一种自限性疾病,其临床表现呈多样性,与诊断及分型相关的临床表现为骨膜成骨亢进、杵状指（趾）、面部肥厚及脑回样头皮,诊断成立尚需排除继发性因素。血流变学改变     

Primary hypertrophic osteoarthropathy with myelofibrosis

Primary hypertrophic osteoarthropathy or pachydermoperiostosis is a rare congenital disease characterized by clubbing of the fingers, periostitis of the distal long bones, and hypertrophic skin changes (pachydermia) including thick folds in the skin of the face, forehead, scalp and extremities, and also joint pain. Clinical manifestations of this disease generally appear among the young and middle-aged. In this article we report a case of a 43-year-old man with pachydermoperiostosis. His skin and joint manifestations were prominent. He had also anemia, and bone marrow biopsy showed myelofibrosis.     

Primary hypertrophic osteoarthropathy

We describe seven patients with primary HOA and review 125 cases reported in the English, French, and German literature. The salient clinical features of primary HOA are: a bimodal distribution of disease onset with one peak during the first year of life and the other at age 15, a male predominance (nine to one), uncommon benign joint effusion, and a variety of skin abnormalities resulting from cutaneous hypertrophy or glandular dysfunction. We concluded that HOA is not a synovial disease. It is suggested that synovial effusions, when present, are perhaps a sympathetic reaction to the neighboring periostitis. Proposed diagnostic criteria for HOA, including digital clubbing and radiographic periostitis, appear 86% sensitive. The clinical features, age of onset, and sex distribution suggest that a genetically controlled growth promoting factor, different from growth hormone, plays a role in the pathogenesis of this syndrome.     

Amelioration of secondary hypertrophic osteoarthropathy following tumor resection in a patient with primary lung cancer

A 41 year-old female presented with swelling of lower extremities and polyarthralgia involving both knee joints. Physical examination revealed presence of finger clubbing, tenderness and pain-on-motion in knee and foot joints. A chest X-ray film showed a solitary tumor in the right mid-lung field. There were subperiosteal new bone formation and radioisotope accumulation in the legs bilaterally. The clubbing, periostitis and arthritis confirmed a diagnosis of hypertrophic osteoarthropathy. Adenocarcinoma was the biopsy diagnosis of the lung tumor. The characteristic features of hypertrophic osteoarthropathy resolved after surgical resection of the pulmonary lesion followed by chemotherapy. This case demonstrates a typical example of identification of a treatable malignant condition by rheumatic symptoms.     

Primary hypertrophic osteoarthropathy

Pachydermoperiostosis PDP (idiopathic or primary hypertrophic osteoarthropathy) is a rare congenital disease that inherited in an autosomal fashion. The disease is more common in males and develops gradually from adulthood. The disease is characterized by coarse facial features, clubbing of the fingers and radiographic periostitis of the distal long bones. The patient was a 37-year-old man with acroosteolysis and digital clubbing of hands and feet fingers and lion facies.     

Primary hypertrophic osteoarthropathy (pachydermoperiostosis). Report of two familial cases and literature review

The primary hypertrophic osteoarthropathy (pachydermoperiostosis) is a hereditary disease characterized by skin thickening (pachydermia), finger clubbing, and proliferation of periosteum (periostitis) with subperiosteal new bone formation. We describe the cases of two brothers of 30 and 24 years, who consulted due to bone pain, arthralgia and oligoarthritis. Pachydermia, hyperhidrosis, seborrhea, digital clubbing, periostosis and non-inflammatory effusions of the knees. The first had been diagnosed with juvenile idiopathic arthritis at age 15, while the youngest also presented with a thoracic scoliosis, hypertrophic gastritis, iron deficiency anemia and glucose intolerance by pancreatic endocrine dysfunction. In both patients, symptoms were controlled satisfactorily with etoricoxib (90mg/day) and risedronate (35mg/week).     

Hypertrophic osteoarthropathy: estrogens,prostaglandinE2, prostaglandin A2, and the inflammatory reflex

Clinical Rheumatology - It has been claimed that hyperestrogenism occurs in hypertrophic osteoarthropathy (HOA), but not in simple clubbing. However, one of our patients had simple clubbing and...     

Seropositive,symmetric polyarthritis in a patient with poorly differentiated lung carcinoma: Carcinomatous polyarthritis,hypertrophic osteoarthropathy,or rheumatoid arthritis?

Polyarthritis resembling rheumatoid arthritis (RA) may be the presenting manifestation of occult malignancy. Hypertrophic osteoarthropathy (HOA) may also develop in association with pulmonary neoplasia and consists of clubbing, periostitis, and arthropathy We describe Q patient who presented with a seropositive, symmetric, inflammatory polyarthritis only 4 weeks before a lung tumor became clinically and radiographically apparent. After initiation of chemotherapy she developed features characteristic of HOA. It appears that the patient had both RA and HOA. We discuss the differential diagnosis and review the relationship of RA, HOA, carcinomatous polyarthritis, and malignancy.