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Pachydermoperiostosis

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Touraine–Solente–Gole syndrome also known as Pachydermoperiostitis(PDP ) is defined by – the presence of digital clubbing, pachyderma (thickening of the skin), and periostosis (swelling of …

Touraine–Solente–Gole syndrome also known as Pachydermoperiostitis(PDP ) is defined by – the presence of digital clubbing, pachyderma (thickening of the skin), and periostosis (swelling of periarticular tissue and subperiosteal new bone formation ) It is a familial disorder inherited as an autosomal dominant trait with variable expression. PDP is a rare genetic disease. [ 1] At least 204 cases of PDP have been reported.

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  • 1. Interesting Case Presentation Dr. Ankit Raiyani Wednesday unit
  • 2. • A 17 year old boy and his 15 year old sister presented in the outpatient department with – deformed fingers and toes, and – enlargement of hands, wrists, elbows, feet and knees, since the past 6 years.• On examination- – Grade 4 Clubbing of fingers and toes – Thick coarse skin with hyperkeratosis – hyperhidrosis – pigeon shaped chest with gynecomastia – Widening of B/L elbow Jt, wrist Jt, knee Jt, ankle Jt• Father had grade 1 clubbing. No other family members affected.• From above details a diagnosis of Pachydermoperiosteitis(PDP) was made
  • 3. Clubbing
  • 4. Hyperkeratosis
  • 5. Elbow Jt
  • 6. Knee Jt, Ankle Jt, clubbing in LL
  • 7. Touraine–Solente–Gole syndrome also known asPachydermoperiostitis(PDP) is defined by – – the presence of digital clubbing, – pachyderma (thickening of the skin), and – periostosis (swelling of periarticular tissue and subperiosteal new bone formation)• It is a familial disorder inherited as an autosomal dominant trait with variable expression.• PDP is a rare genetic disease.[1]At least 204 cases of PDP have been reported.[1]• The precise incidence and prevalence of PDP are still unknown.[1] A prevalence of 0.16% was suggested by Jajic[2].
  • 8. Pathophysiology• Not completely understood• Role of PGE2- – high levels of PGE2 have been observed in PDP – PGE2 can mimic the activity of osteoblasts and osteoclasts. This is why acroosteolysis and periosteal bone formation can be explained by the action of PGE2. – PGE2 has vasodilatory effects, which is consistent with prolonged local vasodilation in digital clubbing• Von Willebrand factor, PDGF, EGF and vascular endothelial growth factor(VEGF) are also increased in PDP which may also contribute to pachyderma and clubbing
  • 9. • Three forms of PDP have been described. 1. A complete form which includes clubbing, pachyderma and periostosis, (40%) 2. an incomplete form lacking the dermatological manifestations (54%) 3. a forme fruste with minimal-to-absent skeletal changes (6%)
  • 10. Clinical features Skeletal features[4] Periostosis Acroosteolysis Widened epiphysis Arthralgia Skin features[1] Joint effusionsPachyderma ClubbingSparse facial Cutis verticisand pubic hair gyrata Other featuresCoarse thick Sebborheicskin hyperplasia Gynecomastia Peptic ulcerLeonine facies Myelofibrosis Crohn’s diseaseHyperhidrosis Mechanical ptosis
  • 11. • Onset is in adolescence- presenting as enlargement of distal extremities and clubbing• Skin and bone changes become apparent by 5- 20 years and remain unchanged throughout life• Prognosis- patient may develop functional or cosmetic complications, but life expectancy is normal
  • 12. • Clinical- combination of above mentioned features• Radiological- – Periostosis- New bone formation under the periosteum can be detected by radiographs of long bones. – Acroosteolysis of distal phalanges of fingers with clubbing• Skin biopsy- low specificity• Urinary PGE2 levels
  • 13. Clubbing and acro-osteolysis
  • 14. • Treatment-1. Rheumatological symptoms- NSAID, colchicine, intra-articular steroid injections, bisphosphonates2. Skin symptoms- isotretinoin 0.5mg/kg/day, botulinum toxin-A, surgical intervention (facial rhytidectomy)
  • 15. References1. Castori M et al. (2005)."Pachydermoperiostosis: an update". Clin. Genet. 68: 477–486.2. Jajic I, Jajic Z. (1992). "Prevalence of primary hypertrophic osteoarthropathy in selected population.". Clin Exp Rheumatol. 10 (7): 73.3. Martínez-Ferrer A et al (2009). "Prostaglandin E2 and bone turnover markers in the evaluation of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report.". Rheumatol. Clin. 28: 1229–1233.4. Rajul Rastogi et al. (2009). "Pachydermoperiostosis or primary hypertrophic osteoarthropathy: A rare clinicoradiologic case.". Indian J Radiol Imaging 19 (2): 123–126.