pachydermoperiostosis

厚皮骨膜增生
  • 文章类型: Case Reports
    厚皮骨膜增生,也被称为Touraine-Solente-Golé综合征,是一种罕见的遗传性疾病.这种情况包括皮肤增厚(厚皮症),骨骼异常(骨膜增生),和数字俱乐部(acropachy)。我们介绍了一例患有终末期肾脏疾病的完全厚皮骨膜病。长期镇痛药和补充和替代药物继发的慢性肾小管间质疾病被认为是肾功能不全的可能病因。患者接受了连续血液透析,然后进行动静脉内瘘手术。鉴于严重的滑膜炎,他还接受了选择性COX-2抑制剂.厚皮骨膜增生是一种罕见的疾病,虽然这种情况本身没有治疗方法,药物或手术干预可以有效控制其副作用。
    Pachydermoperiostosis, also known as Touraine-Solente-Golé syndrome, is an uncommon hereditary condition. This condition includes skin thickening (pachydermia), abnormalities of the bones (periostosis), and digital clubbing (acropachy). We present a case of complete pachydermoperiostosis who presented with end-stage kidney disease. Chronic tubulointerstitial disease secondary to long-term analgesics and complementary and alternative medications was considered the likely etiology for renal dysfunction. The patient underwent serial hemodialysis followed by arteriovenous fistula surgery. In view of significant synovial inflammation, he was also given a selective COX-2 inhibitor. Pachydermoperiostosis is a rare condition, and although there is no therapy for the condition itself, medicinal or surgical interventions can effectively control its secondary effects.
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  • 文章类型: Case Reports
    厚皮层骨病(PDP),或者原发性肥大性骨关节病,是一种罕见的常染色体显性疾病,其主要临床特征为厚皮症(皮肤增厚)和骨膜增生(新骨形成)。瘢痕瘢痕形成也相当模糊,一些科学家声称,与正常皮肤相比,瘢痕疙瘩疤痕含有过量的成纤维细胞,以及大量不规则沉积的结缔组织。
    一名25岁的男子脸上表现出广泛的皮肤折叠,像回一样的头皮,凹陷的鼻唇沟,还有瘢痕疙瘩.症状始于18岁,阴险地进步。此外,他经历了手指和脚趾的撞击,关节痛,肌肉酸痛,和多汗症。影像学检查显示骨骼增厚和囊性区域。诊断为完整的原发性PDP和面部瘢痕疙瘩疤痕,他接受了皮肤磨皮术,活检,和综合治疗,肉毒杆菌毒素注射,5-氟尿嘧啶,和二氧化碳晶格激光器。
    PDP由于其病因不清楚而面临挑战,但在大多数情况下随着时间的推移而稳定。综合治疗策略,包括磨皮术和病灶内治疗的组合,有效地管理PDP患者的瘢痕疙瘩。此病例有助于了解管理罕见疾病,并强调个性化方法的重要性,以改善患有完全原发性PDP和并发瘢痕疙瘩的患者的治疗结果。
    UNASSIGNED: Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy, is a rare autosomal dominant disease with primary clinical features of pachydermia (thickening of skin) and periostosis (new bone formation). Keloid scar formation is also rather obscure, and some scientists have claimed that keloid scars contain an excessive amount of fibroblasts compared with normal skin as well as a dense mass of irregularly deposited connective tissues.
    UNASSIGNED: A 25-year-old man exhibited extensive skin folding on his face, a gyrus-like scalp, depressed nasolabial folds, and keloids. Symptoms began at 18 years of age, progressing insidiously. Additionally, he experienced clubbing of fingers and toes, joint pain, muscle soreness, and hyperhidrosis. Radiographic examinations revealed thickened bone and cystic regions. Diagnosed with complete primary PDP and facial keloid scars, he underwent skin dermabrasion, biopsies, and a comprehensive treatment involving, botulinum toxin injections, 5-fluorouracil, and a carbon dioxide lattice laser.
    UNASSIGNED: PDP presents challenges due to its unclear etiology but stabilizes over time in most cases. Comprehensive treatment strategies, including dermabrasion and a combination of intralesional therapies, are effective in managing keloids in PDP patients. This case contributes to the understanding of managing rare diseases and underscores the importance of personalized approaches to improve therapeutic outcomes in patients with complete primary PDP and concurrent keloids.
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  • 文章类型: Case Reports
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  • 文章类型: Case Reports
    厚皮骨膜病(PDP)是一种以厚皮症三联征为特征的综合征,数字棍棒和长骨骨膜增生,其罕见的发病率和临床特征与肢端肥大症的相似性使诊断具有挑战性。升高的PGE2水平已被假设为其机制之一,并且疗法已被靶向抑制该前列腺素。
    一名25岁的男子,没有合并症,有10年的双侧疼痛和与多汗症相关的手和脚肿胀病史,四级棍棒和额头上明显的皮肤增厚。X光显示掌骨骨增生,近和中指骨和骨膜骨形成,踝关节皮质增厚。进行检查以排除差异,例如甲状腺性交症,肢端肥大症,银屑病关节炎正常,临床诊断为PDP,一种以厚皮病为特征的罕见遗传病,制作了数字俱乐部和骨膜硬化。
    在随访的基础上,对患者进行了6个月的保守治疗。症状正在改善,重复X线显示软组织增厚和骨膜增生的部分改善。
    PDP是一种罕见的诊断,在管理方法上没有明确的共识。应考虑使用选择性COX-2抑制剂(例如依托考昔)进行管理,但应进一步研究其长期效果。
    UNASSIGNED: Pachydermoperiostosis (PDP) is a syndrome characterised by the triad of pachydermia, digital clubbing and periostosis of long bones and its scarce incidence and similarity in clinical features with acromegaly makes the diagnosis challenging. The elevated PGE2 levels have been hypothesised as one of its mechanisms and therapies have been targeted to inhibit this prostaglandin.
    UNASSIGNED: A 25-year-old man with no comorbidities presented to OPD with a 10-year history of bilateral pain and swelling of the hands and feets associated with hyperhidrosis, grade IV clubbing and marked skin thickening on his forehead. X-rays revealed hyperostosis of the metacarpals, proximal and middle phalanges and periosteal bone formation with cortical thickening of the ankle joint. Tests done to rule out differentials such as thyroid acropachy, acromegaly, psoriatic arthritis were normal and a clinical diagnosis of PDP, a rare genetic disease characterised by pachyderma, digital clubbing and periostosis was made.
    UNASSIGNED: The patient was managed conservatively with etoricoxib for 6 months on a follow-up basis. The symptoms were improving and a repeat X-ray showed partial improvement of soft tissue thickening and periostosis.
    UNASSIGNED: PDP is a rare diagnosis with no clear consensus on a management approach. Its management with selective COX-2 inhibitors such as etoricoxib should be considered but its long-term effects should be studied further.
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  • 文章类型: Case Reports
    厚皮骨膜骨病是一种罕见的遗传性疾病,称为原发性或特发性肥厚性骨关节病(HOA)/Touraine-Solente-Gole综合征。它是一种常染色体显性或隐性疾病,包括数字棍棒,骨膜增生,多汗症,和厚皮症(面部皮肤增厚)。眼部表现并不常见;然而,可能出现上睑下垂。由于疾病进展,该病例表现为严重的双侧下垂。进行了20毫米的上眼睑切除术,并进行了提上肌前移,以提高他的视力。这是牙买加首例报告的厚皮骨膜病(PDP)病例。我们介绍了一例罕见的厚皮骨膜增生伴重度上睑下垂的病例,通过手术干预取得了良好的效果。
    Pachydermoperiostosis is a rare genetic disease known as primary or idiopathic hypertrophic osteoarthropathy (HOA)/Touraine-Solente-Gole syndrome. It is an autosomal dominant or recessive disorder comprising digital clubbing, periostosis, hyperhidrosis, and pachydermia (thickening of facial skin). Ocular manifestations are uncommon; however, blepharoptosis may occur. This case presented with severe bilateral ptosis due to the disease progression. A large 20 mm upper lid resection with levator advancement was performed to improve his ability to see. This is the first reported case of pachydermoperiostosis (PDP) in Jamaica. We present a rare case of pachydermoperiostosis with severe blepharoptosis, who attained a good result with surgical intervention.
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  • 文章类型: Case Reports
    厚皮骨肥大症是一种罕见的遗传性疾病,与肢端肥大症非常相似。诊断通常基于不同的临床和放射学特征。口服依托考昔治疗在我们的患者中显示出良好的初始反应。
    厚皮骨膜病(PDP)是一种罕见的遗传性疾病,病因不明。我们报告了一例38岁男性,具有PDP的经典特征。我们的患者对依托考昔治疗有良好的初始反应,但长期使用的安全性和有效性尚待进一步研究确定。
    UNASSIGNED: Pachydermoperiostosis is a rare genetic disorder that closely resembles acromegaly. Diagnosis is usually based on distinct clinical and radiological features. Oral etoricoxib therapy showed a good initial response in our patient.
    UNASSIGNED: Pachydermoperiostosis (PDP) is a rare genetic disorder with unclear etiopathogenesis. We report a case of a 38-year-old male who presented with classic features of PDP. Our patient showed a good initial response to etoricoxib therapy but the safety and efficacy over long-term use are yet to be determined in further studies.
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  • 文章类型: Case Reports
    我们描述了一个具有厚皮骨膜病和脊柱关节病特征的年轻人的病例。通过描述这种稀有性,我们的目标是帮助为未来的研究建立一个数据库,并构建一个管理计划,风湿病学家和临床医生可以使用。
    这是伊拉克首例病例报告,描述了厚皮骨膜硬化和强直性脊柱炎的组合。我们报道了一个23岁男性的这种有趣的关联,他患有炎症性背痛,粗糙的面部特征,俱乐部,附着物炎的迹象,脊柱运动的限制,骶髂关节炎的临床和影像学征象。
    UNASSIGNED: We describe a case of a young man with features of pachydermoperiostosis and spondyloarthropathy. By describing this rarity, we aim to help build a database for future studies and construct a management plan that rheumatologists and clinicians can use.
    UNASSIGNED: This is the first case report in Iraq describing the combination of pachydermoperiostosis and ankylosing spondylitis. We report this interesting association in a 23-year-old male who presented with inflammatory back pain, coarse facial features, clubbing, signs of enthesitis, limitation of spine movement, and clinical and radiographic signs of sacroiliitis.
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  • 文章类型: Case Reports
    厚皮骨膜病(PDP)是一种罕见的疾病,可以模仿肢端肥大症的临床和影像学表现。因此,在评估肢端肥大症患者时,应将其视为鉴别诊断之一。在这项研究中,我们讨论了一名在食品工业工厂工作的24岁简单工人的PDP病例,并回顾了该疾病并发症导致的工作限制。
    Pachydermoperiostosis (PDP) is a rare disease that mimics the clinical and radiographical manifestations of acromegaly. Therefore, it should be considered as one of the differential diagnoses in the evaluation of acromegalic patients. In this study, we discussed a case of PDP in a 24-year-old simple worker working in a food industry factory and reviewed the work restrictions caused by the complications of the disease.
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  • 文章类型: Case Reports
    厚皮骨膜病(PDP)是一种罕见的遗传性疾病,以数字棍棒为特征,厚皮症,和骨膜硬化。我们描述了一名患有PDP的日本男性患者,该患者通过鉴定SLCO2A1中的复合杂合变体而被鉴别诊断为肢端肥大症。最近的研究报道了各种临床表现,以及骨骼和真皮特征,PDP患者。基因检测不仅提供了PDP诊断和鉴别肢端肥大症,还有关于整个生命中可能的并发症和合并症的信息。
    Pachydermoperiostosis (PDP) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. We describe a Japanese male patient with PDP who was differentially diagnosed with acromegaly by identification of compound heterozygous variants in SLCO2A1. Recent studies have reported various clinical manifestations, as well as skeletal and dermal features, in patients with PDP. Genetic testing provided not only PDP diagnosis and differentiation from acromegaly, but also information about possible complications and comorbidities throughout life.
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