-
Indian Journal of Thoracic and... Mar 2021A 30-year-old male patient presented with history of haemoptysis associated with cyanosis and clubbing. Chest computed tomography revealed a simple-type pulmonary...
A 30-year-old male patient presented with history of haemoptysis associated with cyanosis and clubbing. Chest computed tomography revealed a simple-type pulmonary arteriovenous fistula in the right middle lobe. Operative finding showed a bulging arteriovenous fistula covered with a thin layer of pleura. Right middle lobectomy was performed. He had an uneventful postoperative recovery. Bulging out of arteriovenous fistula out of lung tissue is a rarity and carries risk of rupture.
PubMed: 33642721
DOI: 10.1007/s12055-020-01076-y -
Lung India : Official Organ of Indian... Oct 2012Digital clubbing is an ancient and important clinical signs in medicine. Although clubbed fingers are mostly asymptomatic, it often predicts the presence of some dreaded...
Digital clubbing is an ancient and important clinical signs in medicine. Although clubbed fingers are mostly asymptomatic, it often predicts the presence of some dreaded underlying diseases. Its exact pathogenesis is not known, but platelet-derived growth factor and vascular endothelial growth factor are recently incriminated in its causation. The association of digital clubbing with various disease processes and its clinical implications are discussed in this review.
PubMed: 23243350
DOI: 10.4103/0970-2113.102824 -
Revista Brasileira de Reumatologia Dec 2014Hypertrophic osteoarthropathy (HOA) is a condition characterized by arthralgia/arthritis, clubbing, and periosteal reaction. Primary form of HOA is observed at early...
Hypertrophic osteoarthropathy (HOA) is a condition characterized by arthralgia/arthritis, clubbing, and periosteal reaction. Primary form of HOA is observed at early ages of life and is hereditary in nature. Secondary HOA is more frequently seen in clinical setting and occurs as a result of various disorders including inflammatory and malignant diseases. Regression in HOA may be seen after the treatment of underlying condition. In this report, we presented a case of HOA coexisted with myelofibrosis and reviewed the current literature.
PubMed: 25577488
DOI: 10.1016/j.rbr.2014.11.003 -
Nihon Rinsho Men'eki Gakkai Kaishi =... 2011Nakajo-Nishimura syndrome (NNS) (MIM256040, ORPHA2615) is a distinct inherited inflammatory and wasting disease, which usually begins in early infancy with a pernio-like... (Review)
Review
Nakajo-Nishimura syndrome (NNS) (MIM256040, ORPHA2615) is a distinct inherited inflammatory and wasting disease, which usually begins in early infancy with a pernio-like rash. The patients develop periodic high fever and nodular erythema-like eruptions, and gradually progress lipomuscular atrophy in the upper body, mainly the face and the upper extremities, to show the characteristic long clubbed fingers with joint contractures. So far about 30 cases have been reported from Kansai, especially Wakayama and Osaka, Tohoku and Kanto areas. In addition to 10 cases in Kansai area, which have been confirmed to be alive by national surveillance, an infant case has newly been discovered in Wakayama and more cases will be added. Although cause of the disease has long been undefined, a homozygous mutation of the PSMB8 gene, which encodes the β5i subunit of immunoproteasome, has been identified by homozygosity mapping. By analyses of the patients-derived cells and tissues, it has been suggested that accumulation of ubiquitinated and oxidated proteins due to deficiency of proteasome activities cause hyperactivation of p38 MAPK and overproduction of IL-6. Similar diseases with PSMB8 mutations have recently been reported from Europe and the U.S.A., and therefore, it is becoming clear that proteasome deficiency syndromes are globally distributed as a new category of the autoinflammatory diseases.
Topics: Adolescent; Adult; Child; Child, Preschool; Diagnosis, Differential; Erythema Nodosum; Female; Fingers; Humans; Infant; Interleukin-6; Japan; MAP Kinase Signaling System; Male; Mutation; Prognosis; Proteasome Endopeptidase Complex; Ubiquitination; Young Adult
PubMed: 22041427
DOI: 10.2177/jsci.34.388 -
Cureus Apr 2022Combined pulmonary fibrosis and emphysema (CPFE) is an underrecognized syndrome that involves simultaneous restrictive-obstructive lung disease. The prognosis is poor,...
Combined pulmonary fibrosis and emphysema (CPFE) is an underrecognized syndrome that involves simultaneous restrictive-obstructive lung disease. The prognosis is poor, and it frequently occurs with comorbidities. Heavy or former smoking is a major risk factor, and computed tomography (CT) typically shows lower zone fibrosis and upper zone emphysema. Chronic respiratory failure, pulmonary hypertension, and lung carcinoma are major causes of mortality. Diagnosis of CPFE should be combined with palliative care due to the high mortality of the condition, especially in the case of delayed diagnosis. We present the case of a 73-year-old male with a history of non-small cell lung cancer, 50 pack-year smoking, and cervical spine injury (CSI) with a late diagnosis of CPFE. After presenting to the emergency department for an acute exacerbation of dyspnea and hypoxia, he was initially treated with a congestive heart failure protocol. Further examination showed mixed pulmonary function tests as well as digital clubbing, and a CT scan showed changes indicative of advanced bullous emphysema diffusely throughout both lungs with an upper lobe predominance and basilar fibrosis. He was diagnosed with CPFE and immediately treated for both restrictive and obstructive lung diseases with supplemental oxygen, albuterol, ipratropium, corticosteroids, systemic antibiotics, as well as provided with palliative consultation. His previous history and CSI delayed diagnosis, as his lung restriction was likely assumed to be from impaired chest wall mobility rather than CPFE. This case highlights the presentation of a relatively rare disease that was confounded by comorbidities.
PubMed: 35602819
DOI: 10.7759/cureus.24231 -
Diagnostics (Basel, Switzerland) Dec 2022Systemic juvenile idiopathic arthritis associated with lung disorders (sJIA-LD) is a subtype of sJIA characterized by the presence of chronic life-threatening pulmonary... (Review)
Review
Systemic juvenile idiopathic arthritis associated with lung disorders (sJIA-LD) is a subtype of sJIA characterized by the presence of chronic life-threatening pulmonary disorders, such as pulmonary hypertension, interstitial lung disease, pulmonary alveolar proteinosis and/or endogenous lipoid pneumonia, which were exceptionally rare before 2013. Clinically, these children show a striking dissociation between the relatively mild clinical manifestations (tachypnoea, clubbing and chronic cough) and the severity of the pulmonary inflammatory process. Our review describes sJIA-LD as having a reported prevalence of approximately 6.8%, with a mortality rate of between 37% and 68%. It is often associated with an early onset (<2 years of age), macrophage activation syndrome and high interleukin (IL)-18 circulating levels. Other risk factors may be trisomy 21 and a predisposition to adverse reactions to biological drugs. The most popular hypothesis is that the increase in the number of sJIA-LD cases can be attributed to the increased use of IL-1 and IL-6 blockers. Two possible explanations have been proposed, named the “DRESS hypothesis” and the “cytokine plasticity hypothesis”. Lung ultrasounds and the intercellular-adhesion-molecule-5 assay seem to be promising tools for the early diagnosis of sJIA-LD, although high resolution computed tomography remains the gold standard. In this review, we also summarize the treatment options for sJIA-LD, focusing on JAK inhibitors.
PubMed: 36553101
DOI: 10.3390/diagnostics12123095