Clinical and Genetic Characteristics of Korean Patients Diagnosed with Chronic Enteropathy Associated with Gene: A KASID Multicenter Study.

Background/aims: Chronic enteropathy associated with gene (CEAS), an inherited disease characterized by nonspecific intestinal ulcers, has emerged in the Japanese population via loss-of-function mutations in the gene. We aimed to investigate the clinical and genetic characteristics of Korean patients diagnosed with CEAS.

Methods: From July 2018 to July 2021, we performed Sanger sequencing of the gene in 46 patients with chronic intestinal ulcers.

Paraneoplastic musculoskeletal disorders: review and update for radiologists.

Rheumatic paraneoplastic syndromes are rare syndromes that occur at distant sites from the underlying tumor and may involve the bones, joints, fasciae, muscles, or vessels. In the absence of a known tumor, early recognition of a rheumatic syndrome as paraneoplastic permits dedicated work-up for, and potentially early treatment of an occult malignancy. Although there is a continuously growing list of paraneoplastic rheumatic disorders, not all of these disorders have a well-established association with a neoplastic process.

Familial Touraine-Solente-Gole syndrome.

Touraine-Solente-Gole syndrome is a rare, autosomal dominant multisystem disorder arising from dysregulated prostaglandin synthesis due to underlying genetic defects. Early symptoms are related to skin and soft tissue involvement (coarse facial features, widening of wrists, etc) and may thus be overlooked unless a careful physical examination is carried out. Secondary causes of pachydermoperiosteitis must always be looked for in such patients.

[Surgical Treatment for Lung Cancer Associated with Hypertrophic Pulmonary Osteoarthropathy].

Hypertrophic pulmonary osteoarthropathy( HPO) is a rare paraneoplastic manifestation of lung cancer that causes joint pain, joint swelling, and limited range of motion. Two surgical cases of lung cancer with HPO are presented. Case1:A 43-year-old female was referred to our department with a diagnosis of cStage ⅡB left hilar lung cancer.

Pharmacology update: pamidronate for hypertrophic pulmonary osteoarthropathy in palliative care.

Hypertrophic pulmonary osteoarthropathy (HPOA) is a rare syndrome that causes clubbed fingers, periostitis, and synovial effusions. It can adversely impact a patient's quality of life. It occurs secondary to pulmonary disease - most commonly pulmonary malignancy.

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 syndrome secondary to lung cancer.

Bone Geometry, Density, Microstructure, and Biomechanical Properties in the Distal Tibia in Patients With Primary Hypertrophic Osteoarthropathy Assessed by Second-Generation High-Resolution Peripheral Quantitative Computed Tomography.

Periosteosis refers to pathological woven bone formation beneath the cortical bone of the long bones. It is an imaging hallmark of primary hypertrophic osteoarthropathy (PHO) and also considered as one of the major diagnostic criteria of PHO patients. Up to date, detailed information on bone quality changes in long bones of PHO patients is still missing.

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).

Paraneoplastic Syndromes in Lung Cancers: Manifestations of Ectopic Endocrinological Syndromes and Neurologic Syndromes.

Paraneoplastic syndromes are clinical entities associated with cancers and often overlap with metabolic and endocrine syndromes. The cell types of lung cancer involved are frequently small cell, squamous cell, adenocarcinoma, large cell, and carcinoid tumor. A number of neurologic paraneoplastic syndromes have been described for which the tumor product remains unknown.

Digital clubbing as first sign of giant solitary fibrous tumor. A case report.

Solitary fibrous tumors are rare pleural tumors. Most of the time they are benign tumors and identified incidentally once they cause symptoms secondary to their mass effect. Here we present an interesting case of a 54-year-old female found with a giant solitary fibrous tumor with signs of hypertrophic pulmonary osteoarthropathy with associated digital clubbing 6 month before identifying the tumor.