Presentation
These data show that skin involvement in PDP is a prominent feature, that sometimes these symptoms may also be present in their relatives, and that endothelial and fibroblast activation is present in the skin. [ncbi.nlm.nih.gov]
Pachydermoperiostosis can be classified as complete or incomplete depending on the extent of clinical presentation of symptoms and signs.[ 3 ] By definition, the patient presented here seemed to have the complete form of primary PDP since pachydermia, [archivesofrheumatology.org]
Entire Body System
Respiratoric
- Clubbed Finger
We report a 19-year-old man presenting with arthritis, broadening of the fingers and clubbing of the fingers and toes for the previous 3 years. The ankles and knees were swollen. X-rays showed periosteal apposition. [ncbi.nlm.nih.gov]
finger 件名（キーワード） Hormone 件名（キーワード） Lung cancer 件名（キーワード） Pulmonary hypertrophic osteoarthropathy (PHO) 件名（キーワード） Bone scintigraphy 件名（キーワード） Clubbed finger 件名（キーワード） Hormone 要約・抄録 症例は75歳男性. [iss.ndl.go.jp]
Clubbing of the fingers. Edinb Med J. 1949 Mar. 56(3):105-20. [Medline]. Kaditis AG, Nelson AM, Driscoll DJ. Takayasu's arteritis presenting with unilateral digital clubbing. J Rheumatol. 1995 Dec. 22(12):2346-8. [Medline]. [emedicine.medscape.com]
- Mediastinal Disease
In order diagnose PDP, often other diseases must be excluded. For example, to exclude secondary hypertrophic osteoarthropathy, any signs of cardiovascular, pulmonary, hepatic, intestinal and mediastinal diseases must be absent. [en.wikipedia.org]
Conclusion The diagnosis of PDP is based on the combination of digital clubbing, periostitis and pachyderma with the absence of any cardiovascular, pulmonary, liver, intestinal or mediastinal diseases. [jmedicalcasereports.biomedcentral.com]
Eyes
- Thickened Eyelids
Eyelid ptosis which is caused by thickened eyelids (blepharoptosis) is a less common symptom. We report the case of a patient with a complete form of pachydermoperiostosis with bilateral ptosis as presenting feature. [ncbi.nlm.nih.gov]
The skin of his scalp and face was greasy and thickened and he had deep nasolabial folds, prominent nose, bilateral clubbing of fingers and toes. Ophthalmic examination revealed thickened eyelids with a clear vision. [jiaomr.in]
Associated clinical features that have been described include clubbing of digits, with or without paronychial thickening; arthralgias; seborrheic dermatitis; mechanical ptosis of thickened eyelids; periodontal disease; and palmoplantar hyperhidrosis. [doi.org]
On examination, the patient had coarse facial features, thickened eyelids and partial blepharoptosis. [edmcasereports.com]
Skin
- Hyperhidrosis
Elevated prostaglandin levels in affected individuals with cytokine-mediated tissue remodelling and vascular stimulation may underlie PHO and associated features as hyperhidrosis, acroosteolysis, pachyderma, periostosis and arthritis. [ncbi.nlm.nih.gov]
Elevated prostaglandin levels in affected individuals with cytokine‐mediated tissue remodelling and vascular stimulation may underlie PHO and associated features as hyperhidrosis, acroosteolysis, pachyderma, periostosis and arthritis. [doi.org]
Generalized hyperhidrosis required oxybutynin 2.5 mg 3 times per day, with great efficacy. [jrheum.org]
- Localized Scleroderma
scleroderma) [33] In certain instances, several years after the onset pachydermoperiostosis or primary hypertropic osteoarthropathy, diseases generally known to result in secondary hypertrophic osteoarthropathy (Crohn disease, myelofibrosis, and congenital [emedicine.com]
- Palmoplantar Keratosis
Dermatological examination showed increased sebaceous hyperplasia with horizontal furrowing on the forehead and palmoplantar keratosis. Radiographs of forearm revealed a cortical thickening bilaterally in radius and ulna. [jiaomr.in]
Musculoskeletal
- Bone Pain
Bone and joint pains are secondary to periostitis and are usually difficult to control. [doi.org]
Colchicine and retinoids improved skin manifestations, while tamoxifen and bisphosphonates significantly alleviated musculoskeletal symptoms, especially joint and bone pain. [medigoo.com]
Involvement of long bones may produce severe, incapacitating, or deep bone pain. Areas affected by periostitis are often painful and may be associated with overlying warmth or edema. [rheumaknowledgy.com]
Digital clubbing appeared, which was associated with arthritis, bone pain and inflammatory syndrome. X-rays and magnetic resonance imaging found periosteal apposition in the long bones; bone scintigraphy confirmed the HOA diagnosis. [karger.com]
- Knee Effusion
Radiographic examination depicted diffuse periosteal reaction in the bilateral femurs, tibias, and fibulas with a moderate amount of bilateral knee effusions ( Fig. 2A, C ). [doi.org]
Cutis Vertis Gyrata (+) Coarse wrinkles over forehead Tylosis & Pseudoptosis (+) Seborrhoea (+), Folliculitis (+) Prominent Naso Labial folds (+) Sparse Axillary & Pubic hair B/L painless knee effusions External genitalia – Normal Systemic examination [slideshare.net]
Figure 1 Bilateral knee effusion. Figure 2 Hypertrophy of his feet and ankles with edema. Figure 3 Enlargement of his hands and deformity of his fingernails (clubbing). Figure 4 Cutis verticis gyrata. [jmedicalcasereports.biomedcentral.com]
- Bone Disorder
Girschick, Autoinflammatory bone disorders, Clinical Immunology, 10.1016/j.clim.2012.12.012, 147, 3, (185-196), (2013). [doi.org]
Heritable sclerosing bone disorders: presentation and new molecular mechanisms. Ann N Y Acad Sci 2010; 1192(1): 269–277 PubMed CrossRef Google Scholar 29. Narayanan S, Mohamed Gani VM, Sundararaju V. [link.springer.com]
Traditionally used to treat a variety of bone disorders, such as osteoporosis, Paget’s disease, and metastatic bone malignancy, bisphosphonates exert their therapeutic effect through potent inhibition of osteoclastic bone resorption. [jcadonline.com]
- Large Hand
hands and feet; periosteal lesions, fatigability, blepharitis, arthralgia, periosteal overgrowth, and occasionally pulmonary osteoarthropathy. [whonamedit.com]
Hyperhidrosis in association with keratoderma and strikingly large hands and feet: a rare case of pachydermoperiostosis. Clin Exp Dermatol. 2010;35(3): e16–e17. 41. Benedek TG. Paraneoplastic digital clubbing and hypertrophic osteoarthropathy. [jcadonline.com]
- Loss of Lumbar Lordosis
A radiograph of the chest was unremarkable, while that of the spine revealed spondylotic changes with loss of lumbar lordosis. USG examination of the knee and ankle joints revealed mild effusion with thickened synovium bilaterally [Figure 6]. [doi.org]
Workup
Comprehensive diagnostic workup in search of secondary causes was launched. On laboratory examination, CBC exhibited mild anemia with hemoglobin of 12.2 g/dL, metabolic panel including liver enzymes were within normal range. [doi.org]
Thus, a comprehensive workup is required to rule out underlying conditions.[12] In the case of clubbing with periosteal proliferation, however, intrathoracic malignancies account for approximately 90 percent of cases.[11] Etiology. [jcadonline.com]
Treatment
RANKL is thought to increase bone resorption. [18] Bone formation and pain drug treatment [ edit ] Rheumatologic symptoms can be improved by treatment with bisphosphonates, such as pamidronate or risedronate. [en.wikipedia.org]
Neutrophilic chemotaxis, evaluated before starting the treatment and after 15 and 30 days of therapy, showed a progressive decrease of the initial very high index. [doi.org]
In combination with NSAIDs and colchicine, treatment with sulfasalazine was started in both cases, and methotrexate was added to the treatment regimen of the female patient at the end of the first year. The patients were found to be typical PHO. [ncbi.nlm.nih.gov]
COX-2 inhibitor treatment [ Time Frame: 12 months ] The volume of distal part of middle finger change after COX-2 inhibitor treatment [ Time Frame: 3 months ] Both left and right fingers were measured twice and the average value was defined as volume [clinicaltrials.gov]
Prognosis
The primary or idiopathic form is rare and has a good prognosis. [ncbi.nlm.nih.gov]
Prognosis: In secondary forms, the outcome is dictated by the underlying disorder. BIBLIOGRAPHY Martinez-Lavin M, Matucci-Cerinic M, Jajic I, et al. [rheumaknowledgy.com]
All patients need reassurance about good prognosis. Conclusion Primary hypertrophic osteoarthropathy is a rare familial disorder. There are individual case reports in literature with no history of family involvement. [jpma.org.pk]
Nuclear medicine Tc- 99m MDP bone scan symmetric linear increase in tracer accumulation along diaphyseal and metaphyseal surfaces of long bones 4 "tram-track" appearance Treatment and prognosis The success of treatment depends on whether the hypertrophic [radiopaedia.org]
Prognosis Clubbing is potentially reversible if the underlying condition is treated early enough but the changes may be irreversible once collagen deposition has set in. [patient.info]
Etiology
Osteoarthropathy, Primary Hypertrophic*/drug therapy Osteoarthropathy, Primary Hypertrophic*/metabolism Osteoarthropathy, Primary Hypertrophic*/physiopathology Osteoarthropathy, Secondary Hypertrophic*/diagnosis Osteoarthropathy, Secondary Hypertrophic*/etiology [ncbi.nlm.nih.gov]
Arterial aneurysm, infective arteritis including endocarditis or infected AV fistulas, hemiplegia and cardiac shunts such as patent ductus arteriosus are most common etiologies of secondary HOA. [clinicaladvisor.com]
Etiology: The primary form is of unknown etiology, but most likely has a genetic basis. [rheumaknowledgy.com]
Alternatively, neurogenic etiology has been proposed 5. [radiopaedia.org]
[…] clubbing of the fingers and toes Painful and swollen joints Symmetric periostitis especially involving the tibia and fibula, radius and ulna Most often secondary to an intrathoracic neoplasm or infection Primary form is called pachydermoperiostitis Etiology [learningradiology.com]
Epidemiology
Epidemiology Pachydermoperiostosis is rare and is characterised by skin thickening of the forehead, eyelids and hands, digital clubbing and periostosis. [ 2 ] The epidemiology of secondary clubbing depends on the cause. [patient.info]
Tukamoto K, Riazuddin S, Kabra M, Erdenetungalag R, Radnaabazar J, Khan S, Pandya A, Usami SI, Nance WE, Wilcox ER, Riazuddin S, Griffith AJ (2003) Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology [doi.org]
Jaic I (1992) Epidemiology of hypertrophic osteoarthropathy. Clin Exp Rheum 10(suppl 7):13 Google Scholar 3. Hedayati H, Barmada R, Skosey JL (1980) Acrolysis in pachydermoperiostosis, primary or idiopathic hypertrophic osteoarthropathy. [link.springer.com]
[…] diseases generally known to result in secondary hypertrophic osteoarthropathy (Crohn disease, myelofibrosis, and congenital cardiac disease) have been reported to develop in patients with pachydermoperiostosis or primary hypertropic osteoarthropathy. [34] Epidemiology [emedicine.com]
Pathophysiology
Pathophysiology of HOA remains largely obscure. Several theories have been proposed including autonomic dysfunction with sympathetic bias ( 8 ) and dysfunctional fibroblast proliferation ( 9 ). [doi.org]
Further research is needed to clarify the pathophysiological mechanism of HOA as to appropriately direct therapy. [aianmodena.org]
Clubbing is thought to result from changes to the volume of interstitial fluid and increased blood flow to the area but the exact pathophysiology remains unknown. Primary clubbing may be idiopathic or be a feature of an inherited condition. [patient.info]
Prevention
Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets [books.google.com]
It is able to bind to the ends of microtubules to prevent its elongation. [en.wikipedia.org]
Author Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, Rutgers New Jersey Medical School; Visiting Professor, Rutgers University School of Public [emedicine.com]