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Autosomal Recessive Pachydermoperiostosis 

PHO


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]
Nail Abnormality
  • Zaiac and Ashley Walker, Nail abnormalities associated with systemic pathologies, Clinics in Dermatology, 10.1016/j.clindermatol.2013.06.018, 31, 5, (627-649), (2013). Henner Morbach, Christian M. Hedrich, Meinrad Beer and Hermann J.[doi.org]
Collapse
  • Besides, there was evidence of collapse of the calcaneus. Radiograph of the pelvis, including both hip joints, revealed exuberant new bone formation along the iliac bones.[doi.org]
Fishing
  • Wenji Wang, Jianlin Chen, Baoshan Liao, Liqun Xia, Suying Hou, Zhiwen Wang and Yishan Lu, Identification and functional characterization of Histone‐like DNA‐binding protein in Nocardia seriolae (NsHLP) involved in cell apoptosis, Journal of Fish Diseases[doi.org]
Clubbed Finger
  • In cases of arthralgia/arthritis together with clubbed fingers, consideration must be given to hypertrophic osteoarthropathy. The primary or idiopathic form is rare and has a good prognosis.[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]
  • Clubbed fingers: radiological evaluation of the nail bed thickness. Clin Anat. 2008 May. 21(4):314-8. [Medline]. Jajic I, Pecina M, Krstulovic B, Kovacevic D, Pavicic F, Spaventi S.[emedicine.medscape.com]
Hyperhidrosis
  • Mutated patients display a homogeneous phenotype mainly consisting in digital clubbing, periostosis, acro-osteolysis, hyperhidrosis and mild pachydermia. Earliest manifestations include delayed closure of the cranial sutures and PDA.[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]
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.medscape.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]
Bone Pain
  • We describe the case of a patient with the primary form of HOA, who had refractory bone pain and arthritis that responded partially to infliximab treatment.[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]
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]
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]
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]
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]
  • 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]
  • Ophthalmic examination revealed thickened eyelids with a clear vision. Because of the mechanical ptosis, he had a history of repeated eye infection as his upper eyelid would touch the skin of face and was under treatment for the same.[jiaomr.in]

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

  • 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]
  • 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]

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]
  • 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]
  • 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]
  • Prognosis The progression of pachydermoperiostosis or primary hypertropic osteoarthropathy typically ceases after 10 years, but patients may be left with chronic debilitating complications, which include severe kyphosis, restricted motion, and neurologic[emedicine.medscape.com]

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]
  • A work-up disclosed no organic etiology. The final diagnosis consisted of pachydermoperiostosis syndrome.[jmedicalcasereports.biomedcentral.com]

Epidemiology

  • 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]
  • 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]
  • […] 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.medscape.com]
Sex distribution
Age distribution

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]
  • The underlying pathophysiology appears to be an abnormality of prostglandin E2 but the details have yet to be elucidated. 6 patient organizations facilitate support for PDP patients. 4 of them are situated in Europe (Finland [1], France [2], Greece [3[en.wikipedia.org]
  • Further research is needed to clarify the pathophysiological mechanism of HOA as to appropriately direct therapy.[aianmodena.org]
  • Pathophysiology As reported in 2008, pachydermoperiostosis or primary hypertropic osteoarthropathy has been mapped to band 4q33-q34.[emedicine.medscape.com]

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.medscape.com]

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