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.
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
8. 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.[1]
• The precise incidence and prevalence of PDP are still
unknown.[1] A prevalence of 0.16% was suggested by
Jajic[2].
9. 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
10. • 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%)
12. • 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
13. • 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
16. References
1. 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.