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Pachydermoperiostosis (Touraine–Solente–Gole Syndrome): a Case

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Pachydermoperiostosis (Touraine–Solente–Gole Syndrome): a Case Joshi et al. Journal of Medical Case Reports (2019) 13:39 https://doi.org/10.1186/s13256-018-1961-z CASE REPORT Open Access Pachydermoperiostosis (Touraine–Solente– Gole syndrome): a case report Amir Joshi1* , Gaurav Nepal1, Yow Ka Shing2, Hari Prasad Panthi1 and Suman Baral1 Abstract Background: Pachydermoperiostosis (PDP) is a rare disorder characterized by clubbing of the fingers, thickening of the skin (pachyderma), and excessive sweating (hyperhidrosis). It typically appears during childhood or adolescence, often around the time of puberty, and progresses slowly. Clinical presentations of PDP can be confused with secondary hypertrophic osteoarthropathy, psoriatic arthritis, rheumatoid arthritis, thyroid acropachy, and acromegaly. Case presentation: A Mongolian male, aged 19 years, resident of a hilly district of Nepal, with history of consanguinity, presented to our outpatient department with chief complaints of pain and swelling in both hands and feet for 6 years. The pain was insidious in onset, throbbing in nature, and not relieved by over-the-counter medications. The patient also complained of profuse sweating, progressive enlargement of hands and feet, and gradual coarsening of facial features. On examination there were marked skin folds in the forehead, face, and eyelids. Clubbing and swelling of bilateral knee joints and ankle joints was also evident. He was subsequently investigated extensively for acromegaly. Insulin-like growth factor-1 level and oral glucose tolerance test were normal. Radiography of various bones showed periosteal hypertrophy with subperiosteal bone formation. Conclusions: PDP should be considered as a differential diagnosis when a patient presents with hypertrophic osteoarthropathy and acromegalic features. Keywords: Pachydermoperiostosis, primary hypertrophic osteoarthropathy, Touraine–Solente–Gole syndrome Background two of the following are present: positive family history, Pachydermoperiostosis (PDP) is a rare disorder charac- clubbing, hypertrophic skin changes, and bone pain/ terized by clubbing (acropachy) of the fingers and toes; radiographic changes. According to Jajic et al. [5], the es- thickening of the skin (pachyderma), usually of the face; timated prevalence is of approximately 0.16%. It usually excessive sweating (hyperhidrosis); and new bone forma- manifests in adolescence, occurring almost exclusively in tion associated with joint pain [1, 2]. In 1935, the three males, with a male to female ratio of 7:1 [6]. dermatologists Touraine, Solente, and Gole recognized The pathogenesis of PDP is not fully known. The this condition as a familial disorder presenting in three 15-hydroxyprostaglandin dehydrogenase gene and the forms, namely complete (periostosis and pachyderma), solute carrier organic anion transporter family member incomplete (without pachyderma), and the forme fruste 2A1 have been found to be associated with PDP [7–10]. (pachydermia with minimal skeletal changes) [3]. PDP is It is thought that increased levels of prostaglandin E2 also therefore known as the Touraine–Solente–Gole (PGE2) as a result of defective selective uptake across syndrome. Borochowitz et al. [4] previously established the plasma membrane by solute carrier organic anion that the diagnosis should only be made when at least transporter family member 2A1 and/or intracellular deg- radation by 15-hydroxyprostaglandin dehydrogenase is central to the pathogenesis of PDP [11–13]. Sasaki et al. [10] previously reported that pachydermia severity and the associated histological changes are correlated with * Correspondence: [email protected]; [email protected] serum PGE2 levels. Elevated PGE2 levels are hypothe- 1Tribhuvan University Institute of Medicine, Maharajgunj, Kathmandu, Nepal Full list of author information is available at the end of the article sized to induce cytokine-mediated tissue remodeling and © The Author(s). 2019 Open Access This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated. Joshi et al. Journal of Medical Case Reports (2019) 13:39 Page 2 of 6 vascular stimulation, leading to hyperhidrosis, acro-oste- function test, rheumatoid factor, and anti-cyclic citrulli- olysis, periostosis, arthritis, and pachyderma as seen in nated peptide were normal. As there was a suspicion of PDP patients [14]. acromegaly, we investigated the levels of insulin-like Herein, we report a case of young male with chief com- growth factor-1 and performed an oral glucose tolerance plaints of pain and progressive enlargement of hands and test; the results of both of these tests were normal. feet along with profuse sweatingandgradualcoarseningof Radiography of the skull showed mild cortical and sub- facial features. He was extensively investigated for acromeg- periosteal thickening (Fig. 3). Bilateral knee x-rays re- aly, and the final diagnosis was pachydermoperiostosis. vealed symmetrical, irregular, and periosteal hypertrophy with subperiosteal new bone formation in the proximal Case presentation tibia and fibula and distal femur (Fig. 4). Radiographs of A Mongolian male, aged 19 years, resident of a hilly dis- bilateral ankles demonstrated irregular subperiosteal new trict of Nepal, presented to our outpatient department bone formation and cortical thickening of distal tibia, fib- with chief complaints of pain and swelling in both hands ula, calcaneum, and talus (Fig. 5). The x-rays of bilateral and feet for 6 years. The pain was insidious in onset, hands showed soft tissue tumefaction, particularly in the throbbing in nature and not relieved by over-the-counter distal phalanges and periostitis and hyperostosis of meta- medications. The patient also complained of profuse carpal and proximal phalanges (Fig. 6). sweating, progressive enlargement of hands and feet, Aspiration of synovial fluid from knee joint was done to and gradual coarsening of facial features. His family his- rule out other forms of arthritis. Synovial fluid analysis tory was significant for consanguinity – his grandparents proved it to be non-inflammatory, non-hemorrhagic, and have a consanguineous relationship. There was other- non-septic. wise no history of a similar illness in the family mem- The patient stayed in our center for 6 days and was bers, and this was the first time the patient sought managed with selective COX-2 inhibitors (Eltrocoxib 60 medical attention for this issue. There was no history of mg PO, OD), steroids (Prednisolone 5 mg PO, OD), oral scalp dandruff or rashes, and the patient denied having retinoids (20 mg morning and 10 mg HS), and retinoid symptoms such as fatigue, eye redness, eye or mouth dry- ointment. The joint pain and swelling improved mark- ness, chest pain, or exertional dyspnea. There was no his- edly with treatment. He was subsequently discharged tory of fever, palpitations, heat intolerance, or tremors. with outpatient follow-up scheduled 1 and 6 months The patient was hemodynamically stable, alert, and con- later, respectively. versant when he presented. On examination, there were However, the patient has since returned to his home- marked skin folds in his forehead, face, and eyelids (Fig. 1). town and missed his physical appointments. Follow-up Clubbing and swelling of bilateral knee joints and ankle was established via telephone on both occasions, and it joints were also evident (Fig. 2). Cardiovascular, respira- was found that his joint pain and swelling was minimal tory, neurological, and thyroid examination performed for and the pachyderma had reduced gradually since dis- the patient was otherwise unremarkable. There was no charge. The patient experienced no relapses or compli- scalp dandruff, rashes, psoriatic nail changes, subcutane- cations from the condition or the medications. ous nodules, or eye redness noted on examination. We performed biochemical investigations including a Discussion full blood count (total lymphocyte count 9.5 × 109/L, We reported a case of a 19-year-old patient with chief hemoglobin 12.4 mg/dL, platelet 410 × 109/L), liver func- complaints of pain and progressive enlargement of tion test (normal), and renal panel (normal). Thyroid hands and feet along with profuse sweating and gradual coarsening of facial features. Examination findings, la- boratory investigations, and radiographic analyses all pointed towards a diagnosis of PDP. Although the diagnosis of PDP can be made on the basis of classic clinical and radiological features, it is often overlooked due to the lack of qualified health workers and limited resources in the context of Nepal; to our knowledge, there is only one other known case report on this disease entity in the local region [15]. The case described here is that of a complete form of PDP, for which the key supportive clinical and radiological features and the relevant differential diagnoses, taken in consideration of the locoregional context, form the main Fig. 1 Pachyderma points of discussion. Joshi et al. Journal of Medical Case Reports (2019) 13:39 Page 3 of 6 Fig. 2 a Clubbing of finger nails, b swelling of bilateral knees,
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