Hypertrophic Osteoarthropathy Presenting as Rheumatoid Arthritis Mimicker: A Case Report

Ulutaş, Firdevs; Ulu, Meral; Karasu, Uğur; Çobankara, Veli

doi:10.7759/cureus.9271

Cited by 3 publications

(3 citation statements)

References 8 publications

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“…PDP is very rare, and its clinical and radiological presentations can be confused with those of acromegaly, pseudoacromegaly with severe insulin resistance, secondary hypertrophic osteoarthropathy, Marfan’s syndrome, McCune Albright syndrome, syphilitic periostitis, psoriatic onycho-pachydermo-periostitis and Paget’s disease ( 5 , 6 , 7 , 8 , 9 , 10 , 11 ). Acromegaly may bedue to sporadic or familial GH-secreting adenomas, arising during childhood or puberty.…”

Section: Discussionmentioning

confidence: 99%

Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey

Baykan¹,

Türkyılmaz²

2022

Jcrpe

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Pachydermoperiostosis (PDP), also known as primary hypertrophic osteoarthropathy, is a rare genetic disorder characterized by pachyderma and periostosis. Acromegaly is a condition caused by excessive secretion of growth hormone (GH) leading to elevated insulin-like growth factor 1 levels, and is characterised by somatic overgrowth and physical disfigurement, notably affecting hands and feet. We present two cases referred with an initial diagnosis of acromegaly that were ultimately diagnosed as PDP. Case 1: A 17 year-old boy presented with enlargement in both feet and hands, finger clubbing, swelling in knee joints, knee pain, coarsening of facial skin lines and forehead skin, and excessive sweating which increased gradually over five years. There were prominent skin folds on the forehead, face, and eyelids. Also, there was an enlargement in both hands and clubbing of the fingers. There was marked swelling in the knee joints and ankles. Genetic analysis revealed a novel homozygous variant NM_005630: c.31C>T (p.Q11*) in the SLCO2A1 gene. Case 2: A 16 year-old boy presented with coarsening of forehead skin and scalp, excessive sweating, and pain in the elbow and knee over three years. Skin folds were prominent on the forehead and scalp. Genetic analysis revealed a homozygous variant NM_005630.2:c.86delG (p.G29Afs*48) in the SLCO2A1 gene. Such clinical presentation contemporaneous with normal GH level and prominent radiological abnormalities prompted the diagnosis of PDP. In conclusion, PDP is a very rare osteoarthrodermopathic disorder with clinical and radiographic presentation that may mimic acromegaly. In the evaluation of patients with acromegaloid appearance, PDP should be considered as a differential diagnosis.

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Section: Discussionmentioning

confidence: 99%

Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey

Baykan¹,

Türkyılmaz²

2022

Jcrpe

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“…It is known that the features of arthritis found in patients, as often the first and dominant symptom of hypertrophic osteoarthropathy, may lead to erroneous diagnosis of systemic connective tissue diseases [ 7 ]. There have been reports of patients in whom primary or secondary hypertrophic osteoarthropathy was finally confirmed, and who had previously diagnosed and unsuccessfully treated systemic connective tissue disease due to the features of arthritis – among others, reactive arthritis, rheumatoid arthritis, ankylosing spondylitis, and systemic lupus erythematosus [ 3 , 22 ].…”

Section: Discussionmentioning

confidence: 99%

“…In practice, in adults, osteoarthropathy is in most cases caused by pathology of the respiratory system (90%). Due to its high correlation with thoracic tumours (4-17% of patients with non-small cell lung cancer), it can be considered a paraneoplastic symptom which occurs even several months before the diagnosis of the underlying disease [ 22 ].…”

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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Omission of Hypertrophic Osteoarthropathy Delays the Early Diagnosis of a Lung Neoplasm

Mitroi

Luminita

Maria

et al. 2020

ARS Medica Tomitana

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Introduction. Hypertrophic osteoarthropathy (HOA) is a syndrome characterized by periostitis of the long (tubular) bones, clubbing of the digits and arthritis. Less than 4,5% of the lung cancer patients developed hypertrophic osteoarthropathy as a paraneoplastic manifestation. Case presentation. We present a case of a 59 year old man, smoker presents for 18 months recurrent symmetric arthritis of knee. He lost 6 kilograms and he had no pulmonary symptoms. Physical examination revealed digital clubbing with watch-glass nails painless of all fingers, joint effusion of the knees. Laboratory results revealed only inflammatory syndrome and anaemia of chronic disease. The X-rays revealed periosteal appositions at the tibia, fibula and femur, mass in the left lower lobe. Computed tomography confirmed lung tumor and biopsy showed the malignant character of the tumor. Conclusion. The index of suspicion for OAH should be high in a patient with symmetrical arthritis who associates Hippocratic fingers.

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Hypertrophic Osteoarthropathy Presenting as Rheumatoid Arthritis Mimicker: A Case Report

Cited by 3 publications

References 8 publications

Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey

Differential Diagnosis of Acromegaly: Pachydermoperiostosis Two New Cases from Turkey

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

Omission of Hypertrophic Osteoarthropathy Delays the Early Diagnosis of a Lung Neoplasm

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