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

Rajagopal, Lavanya; Arunachalam, Sundaram; Ganapathy, Shivashekar

doi:10.4103/jms.jms_56_17

Cited by 2 publications

(1 citation statement)

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“…According to the best of our knowledge, only 22 PHO cases with myelofibrosis have been reported to date, nine (40.9%) were reported from Asian countries [9]. Our patient had a long history of fatigue and other anemia-associated symptoms, and developed transfusion dependency for the last year, suggesting that hematopoiesis was well compensated at the beginning of the disease.…”

Section: Discussionmentioning

confidence: 62%

Primary Hypertrophic Osteoarthropathy With Myelofibrosis

Yousaf¹,

Khan²,

Akram³

et al. 2022

Cureus

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Primary hypertrophic osteoarthropathy (PHO) is a rare autosomal recessive inherited multi-system disorder characterized by a triad of pachydermia, periostosis, and clubbing. PHO was revealed to be caused by the HPGD gene producing 15-prostaglandin dehydrogenase and the SLCO2A1 gene expressing one kind of prostaglandin transporter. It is primarily a benign disorder, but coexisting myelofibrosis can lead to clinically significant cytopenias. In this case report, we present the case of a 21-year-old boy with a history of transfusion-dependent anemia and a progressive increase in transfusion requirements over the course of seven years. On basis of the patient's medical history, family history, and clinical examination genetic testing was done. The patient was found to have homozygous c.664G>A (p. Gly222Arg) mutation in the SLCO2A1 gene; confirming the diagnosis of PHO.

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Section: Discussionmentioning

confidence: 62%

Primary Hypertrophic Osteoarthropathy With Myelofibrosis

Yousaf¹,

Khan²,

Akram³

et al. 2022

Cureus

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Touraine-Solente-Gole Syndrome. (Primary paquidermoperiostosis). Two case report

Medina

Guerra

Liens³

et al. 2020

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Two cases occur in the same family (siblings) of 30 and 16 years of age with a diagnosis of primary pachydermoperiostosis or Touraine-Solente-Goulé Syndrome (TSG), an uncommon condition, characterized by pachydermia, periostosis and pachydactyly, which can be idiopathic, with onset at puberty, of genetic origin, autosomal dominant transmission. These brothers come to the internal medicine office of the Carlos Manuel de Céspedes hospital complaining of joint pain with skin and osteoarticular manifestations, consulting with the dermatology service considering the diagnosis of this rare syndrome and conducting relevant studies and after its conclusion makes the clinical report for publication because it is the first case reported in our province.

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

Cited by 2 publications

References 1 publication

Primary Hypertrophic Osteoarthropathy With Myelofibrosis

Primary Hypertrophic Osteoarthropathy With Myelofibrosis

Touraine-Solente-Gole Syndrome. (Primary paquidermoperiostosis). Two case report

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