Causes Of Hypertrophic Osteoarthropathy Research Articles

Complete pachydermoperiostosis with diffuse keratoderma mimicking thyroid Acropachy: A case report and review of literature

Pachydermoperiostosis (PDP) is a rare genodermatosis with prominent cutaneous, soft tissue and skeletal manifestations. It can mimic secondary causes of hypertrophic osteoarthropathy such as thyroid acropachy. Cutaneous manifestations can be debilitating and constitute critical clues to formulating an accurate diagnosis. Palmoplantar keratoderma is a seldom reported manifestation of the disease hence, its significance as a phenotypic variant of pachydermoperiostosis is unknown. We describe a rare case of complete pachydermoperiostosis with diffuse palmoplantar keratoderma in a young African man presenting with hyperhidrosis, hyper-defecation and weight loss who had been previously misdiagnosed with thyroid acropachy. The aim is to provide a detailed clinical description of both common and unconventional features of this rare disease. Pachydermoperiostosis manifests with diverse genotypic and phenotypic characteristics that can mimic treatable, secondary causes of hypertrophic osteoarthropathy. Keratoderma and hyper-defecation are seldom reported manifestations that may represent unique variants of PDP. Awareness of characteristic dermatological manifestations of the disease can enhance early and accurate clinical diagnosis and prevent needless investigations.

A RARE CASE OF PRIMARY HYPERTROPHIC OSTEOARTHROPATHY : CASE REPORT

BACKGROUND: Hypertrophic osteoarthropathy (HOA) is characterized by abnormal growth of skin and osseous tissue at distal parts of the extremities, also known as orphan syndrome and Pierre Marrie-Bamberger syndrome. The peculiar bulbus deformity of the digital tips known as 2 “clubbing”, periosteal proliferation of long bones and painful effusion of synovium. HOA can be primary(idiopathic) and secondary. Although HOA is rare, secondary HOA is more common in certain diseases like chronic pulmonary disease, congenital heart disease, gastrointestinal disease, 5 and malignancies which may improve with treatment of the underlying disease. On the other hand primary HOA is idiopathic and its pathophysiology remains unclear. When idiopathic HOA is associated with pachyderma (thickened skin) is known as pachydermoperiostosis. In 4 extremely rare instance idiopathic HOA may occur without pachyderma. CLINICAL DESCRIPTION: We report a case of 4 years old female child came with complaints of pain and swelling in bilateral knee and ankle joints since 2 years, and developed pain and swelling in elbow and wrist joint since 1 year. On general examination she has grade 4 clubbing in ngers and toes. Suspecting HOA, relevant investigations sent to rule out secondary causes of HOA. After ruling out all causes of secondary HOA, we arrive at diagnosis of primary (idiopathic) HOA. MANAGEMENT: As there is no denitive management for primary HOA, we managed our patient symptomatically with painkillers. CONCLUSION: Reporting a rare case of primary HOA without pachyderma treated symptomatically with NSAIDS.

Touraine-Solente-Gole syndrome with acne vulgaris successfully treated with isotretinoin

Touraine Solente Gole syndrome or pachydermoperiostosis is a rare genodermatosis affecting skin bones and connective tissue characterized by the triad of pachydermia periostosis and digital clubbing The authors report the case of a year old man presenting the dermato rheumatic symptoms that characterize the complete form of the syndrome He also manifested palpebral ptosis and severe acne treated with isotretinoin in addition to exuberant polyarticular arthritis Other causes of hypertrophic osteoarthropathy were investigated and not found

Hypertrophic Osteoarthropathy: Clinical and Imaging Features.

Hypertrophic osteoarthropathy (HOA) is a medical condition characterized by abnormal proliferation of skin and periosteal tissues involving the extremities and characterized by three clinical features: digital clubbing (also termed Hippocratic fingers), periostosis of tubular bones, and synovial effusions. HOA can be a primary entity, known as pachydermoperiostosis, or can be secondary to extraskeletal conditions, with different prognoses and management implications for each. There is a high association between secondary HOA and malignancy, especially non-small cell lung cancer. In such cases, it can be considered a form of paraneoplastic syndrome. The most prevalent secondary causes of HOA are pulmonary in origin, which is why this condition was formerly referred to as hypertrophic pulmonary osteoarthropathy. HOA can also be associated with pleural, mediastinal, and cardiovascular causes, as well as extrathoracic conditions such as gastrointestinal tumors and infections, cirrhosis, and inflammatory bowel disease. Although the skeletal manifestations of HOA are most commonly detected with radiography, abnormalities can also be identified with other modalities such as computed tomography, magnetic resonance imaging, and bone scintigraphy. The authors summarize the pathogenesis, classification, causes, and symptoms and signs of HOA, including the genetics underlying the primary form (pachydermoperiostosis); describe key findings of HOA found at various imaging modalities, with examples of underlying causative conditions; and discuss features differentiating HOA from other causes of multifocal periostitis, such as thyroid acropachy, hypervitaminosis A, chronic venous insufficiency, voriconazole-induced periostitis, progressive diaphyseal dysplasia, and neoplastic causes such as lymphoma. ©RSNA, 2016.

Primary Hypertrophic Osteoarthropathy: An Update on Patient Features and Treatment

To the Editor: Hypertrophic osteoarthropathy (HO) is a disorder characterized by changes to the skin and bones, and occurs either in a rare familial primary form [primary hypertrophic osteoarthropathy, (PHO)], also called pachydermoperiostosis (PDP), with a 9:1 male:female prevalence ratio, or more commonly secondary to an underlying pathology1. Key features include digital clubbing, periostosis with bone and joint enlargement, and skin changes, such as pachydermia, abnormal furrowing, seborrhea, and hyperhidrosis. Specific developmental abnormalities have been found in some patients with PHO, such as wide cranial sutures, Wormian bones, and patent ductus arteriosus 2. In adults, when all major clinical features are present, PHO is relatively easy to diagnose. However, for the pediatrician, who often has to contend with an incomplete clinical presentation3, diagnosis may be a challenge. The discovery of mutations in 2 prostaglandin pathway genes HPGD and SLCO2A1 has clarified the autosomal recessive inheritance [Mendelian Inheritance in Man (MIM) #259100, MIM #614441] of this genetically heterogeneous condition4,5,6,7. Here we present 4 previously undescribed patients who exemplify the gene-dependent presentations of PHO and provide diagnostic and treatment advice. The subjects’ written consent was obtained in conformance to the Declaration of Helsinki. Key clinical features are listed in Table 1. Secondary causes of HO were excluded8, and DNA sequence analysis (Supplementary Data available online at jrheum.org) confirmed the clinical diagnoses of PHO/PDP. View this table: Table 1. Patients’ clinical features. A 20-year-old male patient had begun limping at the age of 14 months. At 3 years old, chronic arthritis of both knees was investigated by arthroscopy, with nonspecific chronic synovial inflammation at biopsy. Oligoarticular juvenile idiopathic arthritis (JIA) was diagnosed, and the patient was treated with nonsteroidal antiinflammatory drugs (NSAID), with clinical improvement. At age 5, coarse facies was noted. … Address correspondence to Dr. Gabriella Giancane, Department of Pediatric Immunology, University Medical Centre Utrecht, 3508 AB, Utrecht, the Netherlands. E-mail: gabriella.giancane{at}gmail.com, ggiancan{at}umcutrecht.nl

Unilateral Hypertrophic Osteoarthropathy in a Patient With a Vascular Graft Infection

We report a patient who presented with high fever; a unilateral, palpable tender swelling along the right shin; and effusions in knee and ankle joints leading to the diagnosis of hypertrophic osteoarthropathy (HOA). The diagnostic workup revealed an infected vascular graft that had been implanted 2 years before because of a ruptured infrarenal aortic aneurysm as the cause of HOA. The patient was treated successfully with antibiotics and surgically replacing the infected graft. Hypertrophic osteoarthritis is a clinical entity characterized by digital clubbing, periostitis, and synovial effusions. Primary and secondary forms have been described. Secondary HOA develops as a consequence of various diseases, mainly intrathoracic malignancies. Vascular graft infection, as reported here, is a rare cause of HOA. This case underlines the typical clinical features of HOA and the importance of a prompt and comprehensive diagnostic workup in cases of HOA. Our aim is to sharpen the awareness of its multiple underlying causes. Unilateral HOA is a rare but strong and important sign of infection of vascular prosthesis.

Childhood intrathoracic Hodgkin lymphoma with hypertrophic pulmonary osteoarthropathy: a case report and review of the literature

Hypertrophic osteoarthropathy (HOA) is characterized by clubbing, periosteal new bone formation and polyarthritis. The pathogenesis of clubbing involves an increased expression of platelet-derived growth factor (PDGF) and vascular endothelial growth factor (VEGF) from the digitally lodged platelet clumps, which bypass the pulmonary capillary network as a result of various systemic disorders. Intrathoracic neoplasms are rare causes of HOA in children. We report here a 14-year-old boy with digital clubbing, who eventually received the diagnosis of intrathoracic Hodgkin lymphoma (HL) and HOA. Eight cases previously reported with these two diagnoses are reviewed to emphasize the prognostic significance of HOA in childhood HL. Given the pathogenesis of clubbing and the prognostic significance of HOA, intrathoracic disease should be considered when HOA is detected in a child with a known or suspected malignant disease, and the occurrence of HOA during follow-up should alert the physicians for possible recurrence of the neoplastic disease or intrathoracic involvement.

Hypertrophic osteoarthropathy and intrathoracic Hodgkin's disease in children

Background Hypertrophic osteoarthropathy (HOA) is a syndrome characterized by clubbing of the fingers and toes, periosteal new bone formation of the long bones and polyarthritis. Case report In this report, two children with intrathoracic Hodgkin's disease and HOA are presented. Conclusions Intrathoracic neoplasms are one of the major causes of HOA in adults; however HOA is rarely associated with intrathoracic malignancies in children. HOA associated with intrathoracic Hodgkin's disease is even more rare, but should be kept in mind.

Osteological and Biomolecular Study of Two Possible Cases of Hypertrophic Osteoarthropathy from Mediaeval England

Two skeletons from Mediaeval Wharram Percy, England, show osteological lesions consistent with hypertrophic osteoarthropathy. The primary cause of hypertrophic osteoarthropathy is generally chronic pulmonary disease, usually either cancer or infection; in the pre-antibiotic era it was predominantly the latter. Biomolecular analyses indicate the presence of Mycobacterium tuberculosis DNA in one of the specimens, strongly indicating that pulmonary tuberculosis was the eliciting factor in this case. This is the first time that a primary cause for hypertrophic osteoarthropathy has been firmly identified in an ancient skeleton and illustrates the potential of a dual approach using both osteological and biomolecular techniques for enhancing our understanding of early disease. The other specimen proved negative for M. tuberculosis complex DNA, however the presence of infectious rib lesions allowed us to suggest that some non-tuberculous pulmonary infection was likely the primary cause of hypertrophic osteoarthropathy in this case.

Hypertrophic osteoarthropathy associated with achalasia

A case of hypertrophic osteoarthropathy associated with achalasia is reported. The signs and symptoms of hypertrophic osteoarthropathy abated after treatment of the patient's achalasia with Heller's myotomy. A review of the literature regarding the cause of hypertrophic osteoarthropathy is discussed briefly.

Hypertrophic osteoarthropathy and pregnancy.

Two patients developed hypertrophic osteoarthropathy during pregnancy. Both had immediate cessation of symptoms after delivery. Periosteal new bone formation in one patient was found to have disappeared 6 months after delivery, although asymptomatic clubbing persisted as before pregnancy. The other patient had the onset of clubbing with her first pregnancy, and the symptoms of hypertrophic osteoarthropathy recurred with each of four subsequent pregnancies. These patients, when taken with other lines of evidence, provide further support for an estrogenic role in the cause of hypertrophic osteoarthropathy.

Crohn's disease and diffuse symmetrical periostitis.

Although in many textbooks (Lipman and Massie, 1960; MacBryde, 1965; Shulman, 1966) Crohn's disease is listed among the causes of hypertrophic osteoarthropathy an extensive search of the literature has failed to reveal an adequately documented case. We report here a 17-year-old boy who has diffuse Crohn's disease of the small and large intestine associated with marked periosteal new bone formation and mild clubbing of the fingers.