Primary hypertrophic osteoarthropathy and bilateral transient lateral patellar dislocation in an adolescent

This case report is of the index case of bilateral transient patellar dislocation in a patient with primary hypertrophic osteoarthropathy. Primary hypertrophic osteoarthropathy is a rare complex disorder with variable presentation and thus frequently delayed diagnosis. Notably this disease has multiple skeletal manifestations and, of relevance to this case, a proportion of patients suffer from osteitis. Our patient had serial imaging of the knee joints demonstrating osteitis and associated alteration of the femoral trochlea morphology, predisposing to bilateral transient lateral patellar dislocation. The patient’s clinical presentation, diagnosis and management are discussed. Classification of the disease and its diagnostic parameters are summarised along with key imaging features amongst various imaging modalities.

Chronic Enteropathy Associated with SLCO2A1-Associated Primary Hypertrophic Osteoarthropathy in Female Patients: A Case Report and Literature Review

This paper reports a case of chronic enteropathy associated with the SLCO2A1 gene (CEAS) combined with primary hypertrophic osteoarthropathy (PHO). The patient was a 25-year-old woman with a normal onset of puberty who was admitted to our hospital four times due to intractable oedema and anaemia. She had a history of hyperhidrosis since childhood, and her parents were close relatives (cousins). Enteroscopy revealed stenotic ulcers on the ileocecal valve and the terminal ileum. Computed tomography enterography (CTE) and magnetic resonance enterography (MRE) showed segmental thickening of the ileum and terminal intestinal wall and centripetal narrowing of some intestinal cavities. MRE also showed a marked "comb sign" in the adjacent mesentery, and X-rays of both lower limbs showed thickening of the tibiofibular cortex. The CEAS pathogenic genes were screened by whole exome sequencing, and a homozygous missense mutation of p. Gly222Asp (c.664G>A) was found in the fifth exon of the SLCO2A1 gene, which was verified by Sanger sequencing. In conclusion, the patient was identified as CEAS with PHO associated with a SLCO2A1 gene mutation, but the patient is a young woman, which has rarely been reported in previous studies. In addition to reporting her case, the relevant literature was reviewed to improve clinicians' understanding of diseases associated with the SLCO2A1 gene.

O05 A case of cancer mimicking inflammatory arthritis

Case report - Introduction Rheumatic disease occurring as a paraneoplastic manifestation such as dermatomyositis is well recognised, whilst the symptoms of cancer may frequently mimic the presentations of common rheumatic disorders. It is essential to recognise these differential diagnoses to avoid delay in the detection of malignancy. We present an unusual case of rheumatoid arthritis where, conversely, the diagnosis of inflammatory arthritis was delayed due to the attribution of musculoskeletal symptoms to existing malignancy undergoing treatment. This case highlights the importance of careful history and examination. Cancer and inflammatory disorders may co-exist and delayed diagnosis of either condition can result in increased morbidity. Case report - Case description A 65-year-old male presented to Ear, Nose and Throat (ENT) clinic with a facial lump in association with swelling in his throat, tongue and neck associated with a decrease in appetite and weight loss. He reported an active lifestyle, including mountain climbing until a month prior. He was a non-smoker with alcohol intake of less than 10units/week. Other medical history included osteoarthritis of his left knee which did not limit function. Imaging of the head and neck confirmed a mass in the oropharynx, tonsils, and tongue muscles. Subsequent biopsy revealed moderate to poorly differentiated squamous cell carcinoma (SCC) of the left tonsil. 11 months prior to this presentation, he had developed pain and swelling involving knees, shoulders, and small joints of hands. His mobility became progressively impaired eventually requiring a wheelchair for any outdoor excursion. The systemic and musculoskeletal symptoms were attributed to a paraneoplastic manifestation of his malignant process. A rheumatology opinion was eventually requested in view of the persistence of joint symptoms despite effective cancer treatment with radical radiotherapy. He described early morning stiffness lasting more than 3 hours. Synovitis was evident at his hands, wrists and knees, whilst shoulder movement was restricted, resulting in a high disease activity score (DAS) of 7.44. Blood workup showed normal rheumatoid factor and cyclic citrullinated peptide (CCP). Acute phase markers were elevated with ESR 99 mm/hr, CRP 79 mg/l and ferritin 1194 ng/ml. Ultrasound (US) hands confirmed widespread active synovitis involving bilateral wrist and metacarpophalangeal joints. X-rays showed only degenerative changes. A diagnosis of seronegative inflammatory arthritis was established, and he was initiated on hydroxychloroquine with reducing regime of prednisolone. Methotrexate (MTX) was briefly deferred pending oncology advice. Following initiation of MTX he improved dramatically, returning to normal mobility, and steroids were successfully tapered off. Case report - Discussion Our patient had symptoms of inflammatory arthritis prior to identification of a SCC with local spread; however, his systemic and musculoskeletal features were initially regarded as paraneoplastic. Paraneoplastic arthritides encompass the musculoskeletal manifestations of malignancy. This includes polyarthritis, inflammatory myopathies, hypertrophic osteoarthropathy and palmar fasciitis. Symptoms may precede or occur concurrently with cancer presentations and often respond to treatment of the underlying cancer. Persistence of musculoskeletal symptoms may be a clue to co-existence of a rheumatic diagnosis. Reassessment of history and examination can guide physicians to a concurrent second diagnosis when clinical progress is not as expected. Our case also highlights the question of safe use of immunosuppressive drugs in rheumatic patients with cancer and whether they may promote or induce malignant disease. Literature is challenging to assess as many systemic inflammatory disorders, including RA, have an established increased risk of certain cancers, including lymphoproliferative disease. He was managed by prednisolone and hydroxychloroquine, followed rapidly by MTX, leading to dramatic symptomatic improvement. Low-dose MTX (25—30mg weekly) is considered first-line treatment in RA. Of the commonly used anti-rheumatic therapies it has the least evidence to suggest a potential increased malignancy risk. Other anti -rheumatic drugs such as Tumour Necrosis Factor (TNF) inhibitors also have a favourable risk profile regarding cancer development. Most observational studies evaluating the use of biologic therapy in RA patients with previous solid tumours do not show an increased risk of recurrence. Coordination of care with the patient and their oncologist is essential in the management of cases of individuals with rheumatic disease and concomitant cancer. Case report - Key learning points

A Case of Lung Adenocarcinoma with Pulmonary Hypertrophic Osteoarthropathy Showing Pathological Complete Response to a Pembrolizumab-Containing Chemoimmunotherapy

A 65-year-old woman with prolonged cough and presumed pulmonary hypertrophic osteoarthropathy was referred to our hospital. Computed tomography showed 2 tumors larger than 3 cm in size and massive hilar lymph node enlargement in the right lung. Pathological examination of the transbronchial lung biopsy specimen showed atypical malignant cells, presumed adenocarcinoma, with 1% positivity of programmed cell death 1 ligand (PD-L1). Three courses of chemoimmunotherapy with pembrolizumab (400 mg q3w), carboplatin (AUC 5 mg/mL · min q3w), and pemetrexed (500 mg/m² q3w) were well tolerated and brought about a quasi-complete response both of the lung tumors and lymph nodes and complete symptom relief of the pulmonary hypertrophic osteoarthropathy, finally leading to the surgical intervention, that is, lobectomy and lymph node dissection. Postoperative pathological examination showed no viable cancer foci both in the lung tumors and lymph nodes. The patient recovered uneventfully. Physicians should note the combination chemoimmunotherapy including pembrolizumab, with curative intent, to optimally treat patients with locally advanced non-small cell lung cancer (NSCLC) even if the NSCLC bears a small amount of PD-L1.

Case report: Schizophrenia and hypertrophic osteoarthropathy, a rare syndrome hiding a life-threatening condition

Schizophrenia is associated to somatic disorders especially cardio-vascular and auto-immune. Through this case report, we describe an association with hypertrophic osteoarthropathy (HPO). For this patient it was a paraneoplastic paraneoplastic syndrome secondary to lung cancer. This syndrome is rare but important to recognize since it could hide a life-threatening condition.

Pachydermoperiostosis (PDP): A Case Report

Pachydermoperiostosis (PDP) is the primary form of hypertrophic osteoarthropathy which accounts for 5% of all cases of the disorder. It is a rare hereditary disorder that is associated with digital clubbing, polyarthritis, cutis verticis gyrata, Seborrhea, eyelid ptosis, and hyperhidrosis. In this case report, we discussed a case of an incomplete form of primary hypertrophic osteoarthropathy characterised by evidence of bone abnormalities without pachydermia. Keywords: Pachydermoperiostosis, hypertrophic osteoarthropathy, periostosis.