Incomplete primary hypertrophic osteoarthropathy

Prasad, Avijeet; Shahi, Pratyush; Sehgal, Apoorv; Mallikarjunaswamy, Manoj Bhagirathi

doi:10.1136/bcr-2020-236034

Cited by 3 publications

(3 citation statements)

References 4 publications

(2 reference statements)

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Section: Introductionmentioning

confidence: 99%

“…2 Three clinical variants of PDP were defined in 1935: the complete form, with both pachydermia, periostosis and digital clubbing (as shown in this case); the incomplete form, with periostosis but lacking cutis verticis gyrata (CVG); and the forme fruste, with classical skin changes but with minimal periostosis. 3 Pituitary adenomas are one of the most common brain tumours and display an array of hormonal and proliferative activities. 4,5 They are classified into microadenomas (size < 10 mm) and macroadenomas (size ≥ 10 mm).…”

Section: Introductionmentioning

confidence: 99%

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A Complete Form of Pachydermoperiostosis Accompanied by a Pituitary Microadenoma

Chen¹,

Li²

2023

CCID

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Pachydermoperiostosis is a rare genetic disease that is associated with HPGD (15-hydroxyprostaglandin dehydrogenase) and SLCO2A1 (solute carrier organic anion transporter family member 2A1) gene mutations. It is characterized by three major phenotypes, namely, pachydermia, periostosis, and digital clubbing. Clinically, misdiagnoses such as acromegaly and thyroid acropachy are commonly confused with pachydermoperiostosis. Integral medical history, physical examination, endocrinological tests, and multiple disciplinary cooperation are extremely significant in the accurate diagnosis of pachydermoperiostosis. The co-existence of pachydermoperiostosis and pituitary adenoma is rarely recorded and discussed. In this case, we present a young male patient with a complete form of pachydermoperiostosis and a nonfunctional pituitary microadenoma, which has rarely been reported.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A Complete Form of Pachydermoperiostosis Accompanied by a Pituitary Microadenoma

Chen¹,

Li²

2023

CCID

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“…It should be noted that in many patients the clinical picture of primary hypertrophic osteoarthropathy is incomplete [ 12 ]. The sequence in which the characteristic symptoms, mentioned above, appear also varies, which hinders the diagnosis of the disease [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

Primary hypertrophic osteoarthropathy – a rare cause of pain and arthritis in children. Description of 5 cases

Wójtowicz¹,

Kołodziejczyk²,

Gazda³

et al. 2022

cejoi

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Primary hypertrophic osteoarthropathy (PHoa) is a very rare disease. the typical triad of symptoms, i.e. digital clubbing, periosteal bone formation with bone and joint deformities and skin hypertrophy, may be accompanied by other specific conditions. in the majority of patients, the picture of the disease is incomplete. the dominant clinical symptom may be osteoarticular complaints. Moreover, the final confirmation of the diagnosis of the primary form of hypertrophic osteoarthropathy requires the analysis of much more frequent secondary causes of the disease. diagnosing primary osteoarthropathy in children is particularly difficult. some children report joint pain before the onset of the other symptoms of osteoarthropathy, while the physical and imaging examinations show features of arthritis. this can lead to misdiagnoses including the diagnosis of juvenile idiopathic arthritis (Jia) and the unnecessary use of immunosuppressive treatment.the present description of five patients from the Paediatric rheumatology department indicates diagnostic difficulties in children with PHoa. all of them were examined due to pain and features of arthritis. We observed an incomplete clinical picture of the disease. one patient required a revision of the previous diagnosis of Jia and discontinuation of ineffective treatment with disease-modifying antirheumatic drugs (dMards).PHoa should always be considered in the differential diagnosis of arthritis in children, due to the slow and often atypical development of symptoms, including the presence of pain and arthritis as the predominant symptom of the disease.

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Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report

et al. 2022

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We reported a 22-year-old Emirati male with autosomal recessive primary hypertrophic osteoarthropathy caused by a possibly pathogenic homozygous non-synonymous variant in the SLCO2A1 gene (NM_005630.3: c.289C>T, p. Arg97Cys) presenting with joint swelling, forehead furrowing, and significant clubbing in all fingers and toes. Currently, no standard treatments are approved for this disease; medical care is palliative and includes non-steroidal anti-inflammatory drugs, corticosteroids, tamoxifen, retinoids, and risedronate. Colchicine may be helpful for the pain due to subperiosteal new bone formation. Our patient was treated with etoricoxib 60 mg once daily and showed a significant clinical improvement at the 6-month mark that was reversed upon the withdrawal of this medication. This case report highlights the importance of placing etoricoxib among first-line therapy recommendations for cases with confirmed primary hypertrophic osteoarthropathy diagnosis. To the best of our knowledge, this is the only case of primary hypertrophic osteoarthropathy from the Middle Eastern population of Arab ethnicity that has responded to non-steroidal anti-inflammatory drug therapy.

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Incomplete primary hypertrophic osteoarthropathy

Cited by 3 publications

References 4 publications

A Complete Form of Pachydermoperiostosis Accompanied by a Pituitary Microadenoma

A Complete Form of Pachydermoperiostosis Accompanied by a Pituitary Microadenoma

Primary hypertrophic osteoarthropathy – a rare cause of pain and arthritis in children. Description of 5 cases

Etoricoxib as a treatment of choice for patients with SLCO2A1 mutation exhibiting autosomal recessive primary hypertrophic osteoarthropathy: A case report

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