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. 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

4. Clubbing

5. Hyperkeratosis

6. Elbow Jt

7. Knee Jt, Ankle Jt, clubbing in LL

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%)

11. Clinical features
Skeletal features[4]
Periostosis Acroosteolysis
Widened epiphysis Arthralgia
Skin features[1]
Joint effusions
Pachyderma Clubbing
Sparse facial Cutis verticis
and pubic hair gyrata
Other features
Coarse thick Sebborheic
skin hyperplasia Gynecomastia Peptic ulcer
Leonine facies Myelofibrosis Crohn’s disease
Hyperhidrosis Mechanical
ptosis

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

14. Clubbing and acro-osteolysis

15. • Treatment-
1. Rheumatological symptoms-
NSAID, colchicine, intra-articular steroid
injections, bisphosphonates
2. Skin symptoms- isotretinoin
0.5mg/kg/day, botulinum toxin-A, surgical
intervention (facial rhytidectomy)

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.