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 Table of Contents  
CASE REPORT
Year : 2021  |  Volume : 59  |  Issue : 2  |  Page : 181-183

Elephant skin and droopy lids: A rare case report of touraine-solente-gole syndrome


Department of Ophthalmology, Tirunelveli Medical College Hospital, Tirunelveli, Tamil Nadu, India

Date of Submission03-Oct-2020
Date of Acceptance30-Jan-2021
Date of Web Publication24-Jun-2021

Correspondence Address:
Dr. Thendral Velmurugan
Department of Ophthalmology, Tirunelveli Medical College Hospital, Tirunelveli, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/tjosr.tjosr_149_20

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  Abstract 


Touraine-Solente-Gole syndrome which is also known as pachydermoperiostosis is a multisystem disorder that affects bone, skin including eyelids, gastrointestinal system, and endocrine system. We report this case for the rare presentation of floppy lids and ptosis in a patient with a complete form of Touraine-Solente-Gole syndrome.

Keywords: Acropachia, blepharoptosis, floppy lids, pachydermia


How to cite this article:
Rani RH, Sweetha V, Velmurugan T. Elephant skin and droopy lids: A rare case report of touraine-solente-gole syndrome. TNOA J Ophthalmic Sci Res 2021;59:181-3

How to cite this URL:
Rani RH, Sweetha V, Velmurugan T. Elephant skin and droopy lids: A rare case report of touraine-solente-gole syndrome. TNOA J Ophthalmic Sci Res [serial online] 2021 [cited 2021 Jul 27];59:181-3. Available from: https://www.tnoajosr.com/text.asp?2021/59/2/181/319271




  Introduction Top


Touraine-Solente-Gole syndrome is a rare hereditary systemic disorder that presented with a triad of periostitis, acropachia, and pachydermia (elephant-like skin). It is associated with digital clubbing, seborrhea, hyperhidrosis, and coarse facial features. Gastric hypertrophy, gastric ulcer, and other endocrine abnormalities have also been described.[1] The male: female ratio is 7:1 and males are severely affected than females.[2] Floppiness of the lid has been rarely associated with Touraine-Solente-Gole syndrome.[3] It accounts for only 3%–5% of all cases of hypertrophic osteoarthropathy.[4] This case report highlights the rare presentation of floppy lids and ptosis in a patient with primary hypertrophic osteoarthropathy.


  Case Report Top


A 50-year-old male patient presented with progressive drooping of eyelids for 10 years with a history of recurrent joint swelling. There was no history of diurnal variation of ptosis and double vision. On examination, visual acuity of both eyes was 6/6. Both the lids were thickened with blepharoptosis and floppy lids [Figure 1]. There were also deep furrows in the forehead and upper lid [Figure 2] with chronic  Meibomian gland More Details dysfunction. Eyes were orthophoric with good Bell's phenomenon. The anterior-segment and posterior-segment examinations were normal. Palmoplantar hyperkeratosis with broadened finger and toe tips and Grade 4 digital clubbing was noticed along with bilateral knee joint effusion and column-like legs [Figure 3]. The dermatological evaluation revealed seborrheic hyperplasia of the face and hyperhidrosis. Blood investigations such as complete blood count, renal function tests, liver function tests, thyroid function tests, serum phosphate, calcium, peripheral smear, parathyroid hormone, and growth hormone assay were normal. RA factor, VDRL, CRP, and ANCA were negative. X-ray of the skull showed diffuse calvarial thickening with hyperostosis, while hand and knee showed diffuse periosteal thickening involving the epiphysis [Figure 4]. Computed tomographic scan of the abdomen and chest was normal which rules out secondary causes of pachydermoperiostosis. After ruling out the other secondary causes, the diagnosis of Touraine-Solente-Gole syndrome was made. We have planned for a staged approach. After treating with copious lubricants and topical Nonsteroidal anti -inflammatory drugs (NSAIDS), a bilateral upper eyelid wedge resection was performed and sent for a biopsy which showed sebaceous gland hyperplasia, with fibrosis [Figure 5]. Moreover, the patient has been planned for external levator advancement as ptosis repair.
Figure 1: Clinical photograph showing bilateral floppy lids

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Figure 2: Clinical photograph showing pachydermia of forehead, face, and eye lids with mechanical ptosis and deep forehead furrows

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Figure 3: Pan digital grade 4 digital clubbing with bilateral knee joint effusion

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Figure 4: Plain radiograph showing periosteal reaction with thickening along the radius, cortical and subperiosteal thickening of skull

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Figure 5: HPE showing meiboman gland hyperplasia and fibrosis

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  Discussion Top


In 1935, Touraine et al. described this condition in three clinical forms: complete (periostitis and pachydermia), incomplete (without pachydermia), and the forme fruste (pachydermia with minimal skeletal changes).[5] Our patient presented with complete form. The pathogenesis of pachydermoperiostosis is not clear. HPGD gene codes for 15-hydroxyprostaglandin dehydrogenase, and it is responsible for prostaglandin degradation.[6] Mutation in HPGD gene leads to an increase in PGE2, resulting in periostitis, skin thickening, and clubbing. Ptosis is commonly associated with this syndrome, but floppy eyelids are rarely reported in the literature. In this patient, all the major criteria and five minor criteria set by Borochowitz and Rimoin are fulfilled[7] [Table 1]. Eyelid thickening in this disease is due to sebaceous gland hyperplasia and chronic inflammation. Hypertrophy of the eyelids and palpebral conjunctiva can cause ocular dryness and irritation, which can be treated with aggressive lubrication. In the setting of mechanical ptosis and floppy eyelid syndrome, surgical lid tightening and blepharoptosis repair can be considered.
Table 1: Major and minor criteria for diagnosing tourainesolente-gole syndrome

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  Conclusion Top


We report this case because of the rarity of its occurrence and to make awareness among ophthalmologists in patients with floppy eyelids and blepharoptosis, to screen for systemic conditions, to make an early diagnosis of malignancies such as gastric carcinoma, and to prevent devastating disabilities such as osteonecrosis of femoral neck and kyphosis.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Rajan TM, Sreekumar NC, Sarita S, Thushara KR. Touraine Solente Gole syndrome: The elephant skin disease. Indian J Plast Surg 2013;46:577-80.  Back to cited text no. 1
[PUBMED]  [Full text]  
2.
Jajic I, Jajic Z. Prevalence of primary hypertrophic osteoarthropathy in selected population. Clin Ex Rheum 1992;10:73.  Back to cited text no. 2
    
3.
Kirkpatrick JN, McKee PH, Spalton DJ. Ptosis caused by pachydermoperiostosis. Br J Ophthalmol 1991;75:442-6.  Back to cited text no. 3
    
4.
El Aoud S, Frikha F, Snoussi M, Ben Salah R, Bahloul Z. Bilateral ptosis as a presenting feature of primary hypertrophic osteoarthropathy (pachydermoperiostosis): A case report. Reumatismo 2014;66:249-53.  Back to cited text no. 4
    
5.
Mittal A, Gupta N, Soneja M. BMJ Case Rep 2019;12:e232238. doi:10.1136/bcr-2019;232238.  Back to cited text no. 5
    
6.
Uppal S, Diggle CP, Carr IM, Fishwick CW, Ahmed M, Ibrahim GH, et al. Mutations in 15-hydroxyprostaglandin dehydrogenase cause primary hypertrophic osteoarthropathy. Nat Genet 2008;40:789-93.  Back to cited text no. 6
    
7.
Borochowitz Z., Rimoin D.L. Pachydermoperiostosis. Birth Defects Encyclopaedia. 1990:1349-50.  Back to cited text no. 7
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]
 
 
    Tables

  [Table 1]



 

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