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Year : 2018  |  Volume : 32  |  Issue : 3  |  Page : 227-230

Touraine–Solente–Gole syndrome with myelofibrosis: An unusual case with a rare but serious complication

Department of Pathology, SRM Medical College Hospital and Research Centre, Chennai, Tamil Nadu, India

Correspondence Address:
Dr. Lavanya Rajagopal
902, B-block, SRM Medical Staff Quarters, SRM Medical College, Kattankulathur, Chennai - 603 203, Tamil Nadu
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jms.jms_56_17

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Touraine Solente Gole (TSG) syndrome or Pachydermoperiostosis (PDP) or Primary Hypertrophic Osteoarthropathy (HOA), is an inherited autosomal dominant disorder characterized by triad of pachydermia (thickening of the skin), skeletal changes (periostosis) and acropachia (digital clubbing). Here we report a rare and interesting case diagnosed as Touraine Solante Gole syndrome in a 35 year-old male with an unusual clinical presentation of symptomatic anemia and dysphagia. Bone marrow biopsy revealed myelofibrosis, a rare but serious complication which may lead to life-threatening anemia. As of 2015, only 22 cases of TSG with myelofibrosis have been reported worldwide. Endoscopy revealed hypertrophic gastropathy which is an infrequent association mentioned in the literature as it occurs only in 27% of patients with TSG. This case of Touraine Solente Gole syndrome is presented for its extreme rarity, unusual clinical presentation and rare, serious complications like myelofibrosis and hypertrophic gastropathy. Also to emphasize the importance of close follow up of these patients to avoid as well as treat these complications earlier.

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