Delhi Journal of Ophthalmology

Touraine-Solente-Gole Syndrome: A Rare Case Report

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Dharmil Doshi, Dipali Satani, Shwetambari Singh 
Department Of Ophthalmology, C.H. Nagri Eye Hospital, Ahmedabad ,Gujarat, India

Corresponding Author:

Dharmil Doshi
Fellow, Department Of Ophthalmology, 
C.H. Nagri Eye Hospital, 
Ahmedabad, Gujarat, India
Email id:

Published Online: 26-JUL-2017


Touraine-Solente-Gole Syndrome, also known as Pachydermoperiostosis (PDP) or Primary Hypertrophic Osteoarthropathy, is a rare hereditary disorder, which affects both bones and skin. It is characterized by a combination of dermatologic changes (pachydermia or thickening of the skin) and rheumatologic manifestations (periostosis and finger clubbing). 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 Touraine-Solente-Gole Syndrome with bilateral blepharoptosis as presenting feature.

Keywords :pachydermia, periostosis, blepharoptosis, finger clubbing, primary hypertrophic osteoarthropathy, arthritis, pachydermoperiostosis


Friedreichin first described Pachydermoperiostosis (PDP) in 1868, who called it ‘Hyperostosis of the entire skeleton’.1 In 1907, Unna gave the term ‘cutis verticis gyrate’ for thick, transversely folded skin of scalp and forehead.2 In 1935, three dermatologists, Touraine et al, recognized this condition as a familial disorder with three forms: complete (periostosis and pachydermia), incomplete (without pachydermia) and the forme fruste (pachydermia with minimal skeletal changes).3 The diagnosis of pachydermoperiostosis is based on the presence of atleast two of the four criteria set by Borochowitz which include positive  family history, clubbing, hypertrophic skin changes and bone pain/radiographic changes.4 The exact incidence of this rare disease is not known but the estimated prevalence is 0.16%.5 Symptoms usually appear around puberty, with a male to female ratio of 7:1. Males are severely affected. Castori et al. reviewed 68 published families with Pachydermoperiostosis, including 204 patients and found out that 37 families showed autosomal dominant inheritance and the remaining showed, an autosomal recessive inheritance.6 The main features of PDP are digital clubbing, skin changes like seborrhoea, hyperhidrosis and hypertrophy causing coarse facial features, along with bone and joint involvement causing arthritis, periosteal new bone formation, periosteal reaction and acro-osteolysis. Gastric hypertrophy, gastric ulcer and other endocrine abnormalities have been described. Ptosis is a less commonly encountered association. We are reporting a case of complete Pachydermoperiostosis with blepharoptosis as a presenting complaint. 

Case History

A 27 years old male, born of consanguineous marriage presented with a history of puffiness and drooping of both eyelids since last 6 months. There was no diurnal variation in the severity of drooping or puffiness. He also had a history of pain in the knee and ankle joints with associated swelling since last 1 year. On ophthalmologic examination, his best-corrected visual acuity was 6/6 in both the eyes. Intraocular pressure was 16 mm of Hg in both the eyes. Ocular adnexa examination revealed blepharoptosis of both eyes (left > right) with narrowing of palpebral fissure (Figure 1). The skin of both the eyelids was thickened. The eyelids were thick, floppy and could not be easily everted. Slit lamp examination showed marked papillary hypertrophy of the tarsal conjunctiva. Vertical palpebral fissure heights were 6 mm and 4 mm with margin reflex distance 1 (MRD 1) of 0.5 mm and -1.0 mm, respectively in the right and left eyes. The levator palpebral excursion was good with normal bell’s phenomenon. The rest of the anterior segment and fundus examinations were normal.

General examination of the patient showed the following features:

Gait, built and vital signs were within normal limits for his age. He had greasy and coarse skin with deeply furrowed forehead skin, prominent nasolabial folds, seborrhoea and folliculitis on face (Figure 2). The patient showed pandigital clubbing of hands and feet which was present since early childhood. (Figure 3). Family history was positive. His father and elder brother had similar physical features of hands and feet. The hands and feet were enlarged with a spade like appearance similar to acromegaly (Figure 4). The legs and knees were swollen with effusion of bilateral knee and ankle joint and a mild restriction of motion (Figure 5). Examination of the cardiovascular system, respiratory system and abdomen revealed no significant abnormalities.


Blood investigations like complete blood count with peripheral smear examination, renal function test, liver function test, thyroid function test, serum calcium, phosphate, serum alkaline phosphatase, growth hormone & parathyroid hormone assay were normal. Rheumatoid Factor, C reactive protein, anti-citrullinated peptide antibody, VDRL and ANA profile including C-ANCA, P-ANCA and anti ds-DNA antibody were negative. There was no albuminuria. Ultrasonography of abdomen and electrocardiogram (ECG) were normal. CT scan of abdomen and chest was done to rule out causes of secondary PDP. Radiological consultation was done. X-Ray skull and X-ray chest were unremarkable. X–rays of hands, knees and feet showed a periosteal reaction, subperiosteal new bone formation and cortical thickening without narrowing of the medullary cavity. (Figure 6) After summing up the clinical examination, radiological evaluation and ruling out other secondary causes, a diagnosis of Touraine-Solente-Gole Syndrome was made. Genetic testing was advised but denied by the patient. For initial management, we referred the patient for rheumatologic opinion and treatment was started with NSAIDS (non-steroidal anti-inflammatory drugs), a short course of steroids and intravenous pamidronate. For blepharoptosis bilateral blepharoplasty, with horizontal tarsal wedge resection was advised.


Touraine-Solente-Gole Syndrome or PDP is a rare disease accounting for only 3% to 5% of all cases of hypertrophic osteoarthropathy (HOA)7. The diagnostic criteria for pachydermoperiostosis are: Major criteria: pachydermia, periostosis, finger clubbing. Minor criteria: hyperhidrosis, arthralgia, gastric ulcer, cutis verticis gyrate, blepharoptosis, joint effusion, column-like legs, seborrhea and acne.8 Our patient had all the three major criteria i.e., periostosis, finger clubbing and pachydermi, along with blepharoptosis, joint effusion and seborrhoea. The pathogenesis of Pachydermoperiostosis is unclear. A pathogenic role of the vascular endothelial growth factor has been suggested. Mutations in the HPGD gene which codes for 15–hydroxyprostaglandin dehydrogenase, the key enzyme responsible for prostaglandin degradation, located on chromosome 4q33 4q34 are noted. This leads to higher concentrations of prostaglandin E2, a mediator involved in the processes of clubbing, skin thickening and periostosis.9 Mutations in SLCO2A1 gene causing PDP in Japanese and African patients have been described.10 SLCO2A1 gene encodes a prostaglandin transporter that is a member of the 12-membrane-spanning organic anion-transporting polypeptide superfamily of transporters. The encoded protein is involved in mediating the uptake and clearance of prostaglandins in numerous tissues.10 Thickening of eyelids, with mechanical ptosis is seen in PDP and has been aptly termed as “Blepharoptosis”, to differentiate this kind of ptosis resulting from neurologic causes. Sebaceous gland hyperplasia and dermal mucin deposition contribute to eyelid thickening and the development of ptosis.7-11 Differential diagnosis includes acromegaly, secondary hypertrophic osteoarthropathy following lung, liver and intestinal malignancy, thyroid acropachy and syphilitic periostitis.7-11 At present, there is no effective disease modifying therapy. NSAIDS and corticosteroids are used in symptomatic patients to alleviate polyarthritis. Pamidronate, tamoxifen citrate, octreotide, colchicine and bisphosphonates have been reported as effective therapies in refractory cases.7-9 Plastic surgery is indicated for cosmetic reasons, to change the facial and scalp appearances. Bilateral blepharoplasty, tarsal wedge resection and excision of skin furrows can be done to achieve a good cosmetic improvement.


Ptosis can be an isolated ophthalmic finding or can be associated with other systemic disorders. Blepharoptosis can be a presenting feature of Touraine-Solente-Gole Syndrome and awareness of this clinical manifestation helps in the diagnosis of this rare syndrome. Meticulous systemic examination in such cases helps in identifying this disorder and preventing complications.

  1. Friedrich N. Hyperostose des gesammten skelettes. Virchows Arch Pathol Anat 1868; 43:83.
  2. Unna PG. Cutis verticis gyrata. Monash Praktis Dermatol. 1907; 45:227-33.
  3. Touraine A., Solente G., Gole L. Un syndrome osteodermopathique: la pachydermie plicaturee avec pachyperiostose des extremites. Presse Med 1935; 43:1820-4.
  4. Borochowitz Z, Rimoin DL. Pachydermoperiostosis. Birth Defects Encyclopaedia 1990:1349-50. 
  5. Jajic I, Jajic Z. Prevalence of primary hypertrophic osteoarthropathy in selected population. Clin Ex Rheum 1992; 10:73.
  6. Castori M., Sinibaldi L., Mingarelli R., Lachman R. S., Rimoin D. L., Dallapiccola B. Pachydermoperiostosis: an update. Clin. Genet 2005; 68:477-86. 
  7. El Aoud S, Frikha F, Snoussi M, Ben Salah R, Bahloul Z. Bahloul Bilateral ptosis as a presenting feature of primary hypertrophic osteoarthropathy (pachydermoperiostosis): a case report. Reumatismo 2014; 66:249-53.
  8. Supradeeptha C, Shandilya SM, Vikram Reddy K, Satyaprasad J. Pachydermoperiostosis a case report of complete form and literature review. J Clin Orthop Trauma 2014; 5:27-32. 
  9. Mahesh M, Murthy KV. Bilateral ptosis due to a rare Cause-Pachydermoperiostosis. J Clin Diagn Res 2013; 7:1450-2.
  10. Sasaki T, Niizeki H, Shimizu A, Shiohama A, Hirakiyama A, Okuyama T. Identification of mutations in the prostaglandin transporter gene SLCO2A1 and its phenotype–genotype correlation in Japanese patients with pachydermoperiostosis. J Dermatol Sci 2012; 68:36-44.
  11. Dogan AS, Acaroglu G, Dikmetas O. Blepharoptosis and hypertrophic osteoarthropathy: A case report. Indian J Ophthalmol 2016; 64:317-9.


Dharmil Doshi, Dipali Satani, Shwetambari SinghTouraine-Solente-Gole Syndrome: A Rare Case Report.DJO 2017;28:65-67


Dharmil Doshi, Dipali Satani, Shwetambari SinghTouraine-Solente-Gole Syndrome: A Rare Case Report.DJO [serial online] 2017[cited 2022 Aug 7];28:65-67. Available from: