Pachydermoperiostosis, also known as Touraine-Solente-Golé syndrome, is an uncommon hereditary condition. This condition includes skin thickening (pachydermia), abnormalities of the bones (periostosis), and digital clubbing (acropachy). We present a case of complete pachydermoperiostosis who presented with end-stage kidney disease. Chronic tubulointerstitial disease secondary to long-term analgesics and complementary and alternative medications was considered the likely etiology for renal dysfunction. The patient underwent serial hemodialysis followed by arteriovenous fistula surgery. In view of significant synovial inflammation, he was also given a selective COX-2 inhibitor. Pachydermoperiostosis is a rare condition, and although there is no therapy for the condition itself, medicinal or surgical interventions can effectively control its secondary effects.

BACKGROUND: Hypertrophic osteoarthropathy (HOA) is a rare and intricate hereditary disease. The appearance and functional deformity of the forehead caused by thickened folds are the main clinical manifestations of patients with hypertrophic osteoarthropathy. The cause of this disease is still unknown. Currently, surgical treatment has become one of the best strategies, mainly for improving the appearance of the forehead. There has been no literature report on the use of \"W\"-shaped skin flap resection for thickened forehead skin in patients with hypertrophic osteoarthropathy.
METHODS: All cases of hypertrophic osteoarthropathy in our department in the last 7 years, and previous literature on hypertrophic osteoarthropathy, were reviewed.
RESULTS: A total of 5 cases of hypertrophic osteoarthropathy in our department (mean age 21 years, all male patients) were reviewed. All patients underwent open surgery to remove the thickened skin on the forehead or the wrinkles and gyrus-shaped scalp. The jagged skin tissue was removed (8-9) cm × (1-2.5) cm × 0.5 cm. The folds and thickness of the frontal skin of the patients were greatly improved after the operation. Patient satisfaction with the treatment outcomes was unanimous. However, one case experienced a postoperative wound infection during follow-up. The utilization of the \"W\"-shaped excision technique allowed for the maximal removal of excessively diseased tissue, thereby facilitating a smoother resolution of the depression.
CONCLUSIONS: A total of 5 cases of hypertrophic osteoarthropathy were treated in our department, and all of them underwent frontal skin \"W\"-shaped excision, which was safe, feasible, and practical, and the postoperative results were satisfactory.
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Ferroptosis, a newly-discovered mode of programmed cell death, is closely associated with the development of various diseases throughout the human body, such as tumors of the digestive system, ischemia-reperfusion injury, osteoarthropathy, etc. Therefore, ferroptosis has become a hot research topic in many fields of study in recent years, providing new ideas for the prevention and treatment of relevant diseases. Among them, structural lesions in osteoarthropathies involving articular cartilage, subchondral bone, and synovial tissue have been found to be associated with iron overload, as well as oxidative stress, which suggests that inhibition of ferroptosis in relevant joint tissue cells may have a positive effect in halting the development of osteoarthropathy. Herein, focusing on ferroptosis and osteoarthropathy, we summarized the research developments in mechanisms related to iron metabolism and ferroptosis, analyzed the impact of ferroptosis on the pathogenesis and development of osteoarthropathy, and proposed new ideas for medication therapies of osteoarthropathy, taking into account the latest research findings.

Hypertrophic osteoarthropathy (HOA), manifested with digital clubbing, tubular bone periostosis, and large joint synovial effusions, exists in two forms: primary, which is the rarest form, and secondary. The latter is frequently associated with lung diseases and, in some cases, with non-small cell lung cancer (NSCLC) and is thus expressed in the form of a paraneoplastic syndrome. We report the case of a male smoker who was presented with secondary hypertrophic osteoarthropathy and was subsequently diagnosed with primary adenocarcinoma of the lung. A 63-year-old male with a history of ischemic heart disease and heavy tobacco consumption (60 pack-years) presented with painful osteoarthritis of all four extremities. A chest computed tomography (CT), a positron emission tomography (PET) scan, and a bronchoscopy revealed a 9 cm mass within the right lower lobe without mediastinal adenopathy. Bilateral lower limb X-rays revealed osteoarthropathy of the tibia. A right lower lobectomy and mediastinal lymph node dissection were performed. Final histopathology analysis reported an advanced mixed pulmonary adenocarcinoma. The postoperative course was uneventful and the patient was discharged on postoperative day 6. This report has highlighted the importance of clinical awareness of the association between HOA and carcinoma of the lung.

Hypersecretion of growth hormone (GH) is rare and typically results from a pituitary functional tumor - somatotropinoma. It leads to excessive linear bone growth and manifests as gigantism if occurring in childhood and adolescence, before the closure of epiphyses or as a acromegaly in adulthood. The excess of GH impacts bone metabolism directly as well as indirectly through increased insulin-like growth factor 1 (IGF-1). In acromegaly as a consequence of overproduction of GH and IFG-1 and the influence of these hormones on bone osteoblasts, bone metabolism, growth and density increase. However, bone turnover is accelerated causing impaired bone microstructure and strength, which may lead to increased risk of vertebral fractures irrespective of normal bone mineral density. Apart from the changes in bone architecture, acromegaly also results in a degenerative joint disease of a different nature than primary osteoarthritis. Moreover, acromegaly leads to cardiovascular, metabolic and respiratory complications, and thus significantly impairs the quality of life. In this review, authors summarize the pathophysiology, diagnosis, and treatment of bone and joint disease in acromegaly.

UNASSIGNED: Pachydermoperiostosis is a rare genetic disorder that closely resembles acromegaly. Diagnosis is usually based on distinct clinical and radiological features. Oral etoricoxib therapy showed a good initial response in our patient.
UNASSIGNED: Pachydermoperiostosis (PDP) is a rare genetic disorder with unclear etiopathogenesis. We report a case of a 38-year-old male who presented with classic features of PDP. Our patient showed a good initial response to etoricoxib therapy but the safety and efficacy over long-term use are yet to be determined in further studies.

Biallelic variants in CHST3 gene result in congenital dislocation of large joints, club feet, short stature, rhizomelia, kypho-scoliosis, platyspondyly, epiphyseal dysplasia, flared metaphysis, in addition to minor cardiac lesions and hearing loss. Herein, we describe 14 new patients from 11 unrelated Egyptian families with CHST3-related skeletal dysplasia. All patients had spondyloepiphyseal changes that were progressive with age in addition to bifid distal ends of humeri which can be considered a diagnostic key in patients with CHST3 variants. They also shared peculiar facies with broad forehead, broad nasal tip, long philtrum and short neck. Rare unusual associated findings included microdontia, teeth spacing, delayed eruption, prominent angulation of the lumbar-sacral junction and atrial septal defect. Mutational analysis revealed 10 different homozygous CHST3 (NM_004273.5) variants including 7 missense, two frameshift and one nonsense variant. Of them, the c.384_391dup (p.Pro131Argfs*88) was recurrent in two families. Eight of these variants were not described before. Our study presents the largest series of patients with CHST3-related skeletal dysplasia from the same ethnic group. Furthermore, it reinforces that lethal cardiac involvement is a critical clinical finding of the disorder. Therefore, we believe that our study expands the phenotypic and mutational spectrum, and also highlights the importance of performing echocardiography in patients harboring CHST3 variants.

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.

Primary pachydermoperiostosis is a rare genetic disease affecting the skin and musculoskeletal system. In contrast to secondary hypertrophic osteoarthropathy, primary pachydermoperiostosis is considered a benign condition. While a variety of associated abnormalities have been described in this form, any association with tumors was previously reported in the literature. We hereby describe the first case of a 20-year-old man with primary pachydermoperiostosis revealed by a knee synovial tumor.

OBJECTIVE: Aim to investigate the brucella culture characteristics, diagnosis methods, and clinical characteristics, to provide the laboratory with diagnostic methods and prevention and treatment for brucellosis.
METHODS: Data of 328 cases of brucellosis from 2012 to 2022 was analyzed, retrospectively. The bacterial culture characteristics, the clinical diagnostic methods, and the complications were analyzed respectively. The infection biomarkers of the brucellosis were analyzed by Receiver operating characteristic curve ROC.
RESULTS: Among the 328 brucellosis, 78.96 % of cases were men, the median age of the patients was (45.21±13.49) years and the annual incidence in our region was 67/100 000 per year. The diagnostic methods included pathogenic bacteria culture, serological diagnosis, and suspect case were 24.39 %, 47.56 %, and 28.05 %, respectively, sensitivity of combined detection Standard agglutination test (SAT) and the Rose Bengal test (RBT) is 96.2 %. In our work, 80 cases of brucellosis were diagnosed by a bacterial culture which were been identified as Brucella melitensis, blood culture was the main method (78.75 %) and the average positive alarm time was 80.74 (21.6-129) h and all of them were detected in aerobic bottles, followed by synovial fluid, bone marrow, lumbar spine, and joint tissue, puncture fluid and ascites culture which were 6.25 %, 3.75 %, 5.00 %, 5.00 % and 1.25 % respectively. The brucellosis with complications was lumbar spine lesions at 41.46 % cervical spine lesions at 4.60 % and knee joint lesions at 12.8 % and another osteoarthritis. The in-hospital mortality rate of the patients was 0.91 % and all of them were meningitis patients. ROC analysis indicated CRP had high sensitivity and specificity for brucellosis, and when CRP was 1.23mg/ml, the sensitivity and specificity were 0.727 and 0.718 respectively, and the U test also indicated CRP had a significant difference, Z=5.054, p <0.001.
CONCLUSIONS: Brucellosis is frequently morbidity in 40 + age men, which has been diagnosed by aerobic blood culture, generally bacterial culture, RBT and SAT, epidemiological, and commonly with complications of spine and arthropathy.