Digital Clubbing Research Articles

Changes in soluble PD-L1 levels in patients with advanced non-small cell lung cancer

Abstract Soluble programmed death-1 ligand (sPD-L1) in the serum of non-small cell lung cancer (NSCLC) patients is a crucial factor in disease prognosis and an indicator for immunotherapy response. This study aimed to evaluate changes in sPD-L1 levels in advanced NSCLC patients. Between May 2018 and October 2022, 80 patients with advanced-stage NSCLC and 30 healthy volunteers participated in a prospective study. The findings revealed a significant rise in sPD-L1 concentration in the lung cancer group compared to the normal control group (1.08 vs. 0.42, p < 0.001). No apparent correlation was found between sPD-L1 concentration and membrane-bound programmed death-1 ligand (mPD-L1) expression. The optimal diagnostic threshold for sPD-L1 was set at 0.92 ng/mL, showing a sensitivity of 56.25% and specificity of 77.33%, with an area under the curve (AUC) of 0.743 (p = 0.001). Although increased sPD-L1 levels were prevalent in individuals with advanced age, prolonged disease duration, large tumor size, and finger clubbing, these associations did not reach statistical significance (p > 0.05). In conclusion, sPD-L1 levels significantly increased in advanced NSCLC patients compared to controls (p < 0.05), with no association observed with mPD-L1 (p = 0.304). The study suggests that sPD-L1 concentration can be a specific biomarker for guiding the diagnosis of advanced NSCLC, with a recommended cutoff value of 0.92 ng/mL, demonstrating a sensitivity of 56.25% and specificity of 77.33% (p = 0.001). Importantly, no apparent relationship was established between sPD-L1 levels and clinical or paraclinical characteristics in advanced NSCLC patients.

Nail clubbing, a dermatologic window into underlying systemic disease – an All of Us Study

Introduction Nail clubbing is defined as distal phalanx thickening resulting in a bulbous appearance of the digit. We aimed to describe non-pulmonary medical conditions associated with nail clubbing using a cross-sectional approach. Methods We conducted a cross-sectional analysis of the All of Us Research Program, identifying nail clubbing patients by ICD-10-CM and/or SNOMED code. Nail clubbing patients with pulmonary disease (cases) were compared to nail clubbing patients without pulmonary disease (controls). Fisher’s Exact Test/Pearson’s Chi-Squared Test analyzed categorical variables. Independent Two-Sample t-Tests analyzed continuous variables. Odds ratios were analyzed with multivariate logistic regression adjusted for sociodemographic characteristics. Results In total, 85 participants had nail clubbing, of which 63.53% had a pulmonary disease vs. 36.47% of controls. Overall, across both cases and controls, 22% of patients had chronic liver disease, 17% hypothyroidism, 8% HIV infection, and 5% Graves’ disease/hyperthyroidism. Male vs. female patients with nail clubbing had decreased odds of having concurrent respiratory disease diagnosis (OR, 0.37; 95% CI, 0.14-0.92, p=0.03). Conclusion Greater than one third of patients had nail clubbing associated with a non-pulmonary systemic disease and a significant proportion were male. Consideration of a broad differential of pathologies associated with nail clubbing is needed to initiate workup and make appropriate screening referrals.

Bartonella endocarditis: lessons learnt from an African cohort

Abstract Background Bartonella (B) quintana endocarditis is a preventable, vector-borne, and important cause of blood culture-negative endocarditis (BCNE). The ESC guideline for the management of endocarditis recommends blood serology (IgG titer ≥800) and polymerase chain reaction (PCR) testing on both blood and valvular tissue for diagnosis. Access to these molecular technologies is limited in Africa and there is a paucity of B. quintana endocarditis research on the continent. Purpose Record the clinical picture and explore the risk factors for disease and the diagnostic utility of immunofluorescence (IFA) in PCR-proven cases with B. quintana endocarditis. Methods Data were analysed from a prospective observational cohort study of patients with infective endocarditis managed at our institution. All BCNE cases from October 2019 to January 2024 were evaluated to identify patients with PCR-proven B. quintana on valvular tissue. A commercially available IFA was used for blood serology testing. 16S rRNA PCR testing with sequencing was performed on valvular tissue. Results Thirty five of the 58 cases (60.3%) with BCNE were diagnosed with Bartonella endocarditis. A diagnosis of PCR-proven B. quintana endocarditis was made in 21 cases. Of these, seven patients (33.3%) were either homeless or lived in informal housing. Thirteen patients (61.9%) had an alcohol-use disorder. Four patients (19%) were Human Immunodeficiency (HIV) virus- positive. Eighteen patients (85.7%) reported the onset of symptoms more than two weeks before presentation. Common presenting symptoms were dyspnea (n=21;100%), loss of weight (n=10;47.6%) and fever (n=7;33.3%). Common clinical features were digital clubbing (n=17;80.9%), pallor (n=13; 61.9%), microscopic haematuria (n=12; 57.1%) and severe regurgitant lesions (n=21; 100%). Blood serology was available in 17 patients with an IgG titer (1≥256) in all patients apart from one (1:64). Only one case (5.8%) had an IgG titre ≥800. The most common isolated valve lesion on echocardiography was severe aortic regurgitation (n=10;47.6%). Surgical replacement and repair were performed in 17(80.9%) and 4(19%) patients respectively. The one-, three- and six-month mortality was 14%, 14 % and 14% respectively. No cases of relapse were reported. Discussion B.quintana is the most prevalent cause of BCNE in our centre. The typical clinical and echocardiographic profile was consistent with the reported literature of a destructive endocarditis in a patient with a low socioeconomic background. Despite this, the surgical outcome is fair and comparable to European data. The IFA used in this study is different to the assay referenced in the ESC guideline and may explain the relatively low serology titres observed (despite PCR-proven disease). Further study with the commercial IFA is needed to determine a cut-off titre that will give a comparable sensitivity to the referenced in-house IFA.Destructive aortic valve endocarditisResultant severe aortic regurgitation

Clubbing of fingers and nails in primary hypertrophic osteoarthropathy type 1

Clubbing of fingers and nails in primary hypertrophic osteoarthropathy type 1

An Automated Clubbed Fingers Detection System Based on YOLOv8 and U-Net: A Tool for Early Prediction of Lung and Cardiovascular Diseases

Background/Objectives: Lung and cardiovascular diseases are leading causes of mortality worldwide, yet early detection remains challenging due to the subtle symptoms. Digital clubbing, characterized by the bulbous enlargement of the fingertips, serves as an early indicator of these diseases. This study aims to develop an automated system for detecting digital clubbing using deep-learning models for real-time monitoring and early intervention. Methods: The proposed system utilizes the YOLOv8 model for object detection and U-Net for image segmentation, integrated with the ESP32-CAM development board to capture and analyze finger images. The severity of digital clubbing is determined using a custom algorithm based on the Lovibond angle theory, categorizing the condition into normal, mild, moderate, and severe. The system was evaluated using 1768 images and achieved cloud-based and real-time processing capabilities. Results: The system demonstrated high accuracy (98.34%) in real-time detection with precision (98.22%), sensitivity (99.48%), and specificity (98.22%). Cloud-based processing achieved slightly lower but robust results, with an accuracy of 96.38%. The average processing time was 0.15 s per image, showcasing its real-time potential. Conclusions: This automated system provides a scalable and cost-effective solution for the early detection of digital clubbing, enabling timely intervention for lung and cardiovascular diseases. Its high accuracy and real-time capabilities make it suitable for both clinical and home-based health monitoring.

Complete pachydermoperiostosis (Touraine–Solente–Gole Syndrome) in a young Yemeni man

Pachydermoperiostosis (PDP) is a rare genodermatosis, caused by pathogenic variants in the 15-hydroxyprostaglandin dehydrogenase (HPGD) or Solute Carrier Organic Anion Transporter Family Member 2A1 (SLCO2A1) genes, affecting the skin and bones. It is frequently misdiagnosed as acromegaly due to its presentation, which includes digital clubbing, bone thickening, and deep skin creases on the forehead. We report the first Yemeni case of PDP in a 22-year-old man who displayed classic features: digital clubbing, pachydermia (thickening of the skin) with furrowing on the forehead and scalp, bone thickening (hyperostosis) of the fingers, toes, radius, ulna, tibia, and fibula, as well as hyperhidrosis and seborrhea. Although acromegaly was initially considered, the absence of other typical features led to a final diagnosis of PDP. PDP should be considered in patients presenting with acromegaloid features.

Pachydermoperiostosis: Cosmetic implications in a multi-system genetic condition.

We present the case of a 17-year-old gentleman, initially referred to rheumatology with painful enlargement of his joints, along with prominence of facial features consistent with cutis verticis gyrata. Genetic testing confirmed a diagnosis of pachydermoperiostosis, a rare genetic condition characterised by digital clubbing, long bone periostosis and pachydermia. Our patient exhibited heterozygosity for the SLCO2A1 variant, which is known to confer more prominent skin and bone features than other known underlying mutations. His arthralgia caused significant functional impairment, but moreover there were concerns regarding the psychosocial impact of his cosmetic features, for which there appear to be few available medical therapies. As a multi-system genetic condition, pachydermoperiostosis is also known to be associated with other significant sequelae such as myelofibrosis and gastric ulceration, highlighting the importance of its early detection, which may be aided by the recognition of dermatological signs. In our patient's case, the concurrence of orthostatic hypotension and iron deficiency anaemia were concluded to be a function of restricted dietary intake due to his change in appearance, once again highlighting the cosmetic implications of this condition, and importance of further research into its medical management.

The puzzle of idiopathic clubbing and alcoholic pancreatitis: A case report

Clubbing of the digits has been recognized as a clinical sign of variety of diseases from earliest of the times. Digital clubbing was first ever reported in a patients with empyema by Hippocrates himself. Since then, digital clubbing has been associated with various underlying pulmonary, cardiovascular, neoplastic, infectious, hepatobiliary, endocrine, and gastrointestinal diseases.

Hypertrophic Pulmonary Osteoarthropathy - An Overlooked Clue of Lung Cancer

Hypertrophic osteoarthropathy (HOA) is a syndrome that presents with classic findings of digital clubbing, arthralgia, and periostosis of tubular bones. When HOA is associated with pulmonary pathologies such as lung malignancies, it is referred to as hypertrophic pulmonary osteoarthropathy (HPOA). We present a case of an elderly woman who presents with significant pain in both hands and was eventually diagnosed with lung malignancy. This case is of interest to hospital-based internists to ensure timely diagnosis of HPOA so a brief overview of the presentation, laboratory findings, and treatment of HPOA is discussed.

P029 Successful treatment of Rapidly progressive MDA-5 with dual combination therapy as a bridge to lung transplantation

Abstract Background/Aims Anti-melanoma differentiation-associated gene 5 (MDA5) is known to be associated with rapidly progressive interstitial lung disease (RP-ILD) and is fatal in most cases. The aim of this case report is to highlight the importance of early detection and aggressive treatment in improving the survival of these patients. Methods A 48-year-old Caucasian man, ex-smoker with 20 pack year history with well-controlled asthma, GORD, hiatus hernia and chondrocalcinosis in right knee on hydroxychloroquine was noted to have finger clubbing and decreased air entry at the right lung base on routine follow up. He worked in print finishing for 18 years. Results Investigations: CXR-increased interstitial shadowing. CT chest-extensive fibrosis NSIP pattern with honey combing, traction bronchiectasis throughout both lung fields and ground glass changes at the lower lobes. FVC 2.99 (63% predicted), FEV1 2.82 (73% predicted), FEV1/FVC ratio 0.95%, TLCO 2.75 (25% predicted), KCO 0.70 (46% predicted). CK- 76, Myositis blot- MDA 5 +ve, c ANCA +ve, PR3&MPO -ve and ANA -ve. CRP 70. Bronchoscopy-normal. He received IV methyl prednisolone 1 gm x 3 followed by prednisolone 60 mg daily and tapering dose along with Cyclophosphamide IVI 1 gm x 6 cycles. Long term home oxygen was prescribed. As he did not improve on initial immunosuppressive treatment, Rituximab IVI 1 gm x 2 was administered within two months of initial therapy. He was referred for lung transplant. As maintenance, he was on mycophenolate 1.5 gm BD, prednisolone 10 mg OD, Co-trimoxazole 960 mg x 3 days per week and rituximab 1 gm at six months and 12 months. He had bilateral lung transplant in Cambridge after two years from the diagnosis. Unfortunately, he developed organizing pneumonia, primary graft dysfunction requiring a brief ITU admission and tracheostomy soon after the transplant. His current medications include Prednisolone 5mg, Mycophenolate 2g Tacrolimus 3mg mane, 2mg nocte, Azithromycin 250mg three times weekly and Septrin 480mg od. He is now managing well, cycling 10-15 miles daily. He no longer requires ambulatory oxygen. His most recent FEV1 4.1L, FVC4.9L and resting saturation 97%. Dual combination aggressive immunosuppressive therapy led to significant disease control in this patient, enabling him to be enlisted for and finally to receive a double lung transplant within a reasonable time limit. It has been reported that patients with MDA 5 ILD have a 1-year survival of 67.5% and a 3-year survival of 46.7%. Conclusion Key Learning Points: Patients with MDA5-ILD have significantly high mortality rate but early diagnosis and optimal treatment combination can lead to favourable outcomes. These patients should be monitored for opportunistic infections. Patient commitment is important. Our patient stopped smoking, reduced weight to improve fitness to optimise the transplant success. Disclosure K. Yein: None. S. Sadiq: None. S. Zeb: None. A. Ahmed: None. E. Price: None.

Metastatic gastric cancer in a 23- year-old female Zambian diagnosed posthumously: A case report

Introduction: Gastric cancer is one of the leading causes of cancer mortality globally and in Zambia, its exact burden is unknown. Here, we present a case of gastric cancer in a young adult that was diagnosed posthumously.
 Clinical details: A 23-year-old female patient was referred to the largest tertiary care institution in Zambia, the University Teaching Hospital (UTH). She had been followed up at a district hospital. The patient had a three months’ history of ill-health with symptoms of anaemia, abdominal pain and distension. Upon arrival at UTH, she was noted to be very frail, with pallor, tachycardia and gross abdominal distension and a nodular irregular liver, measuring 10cm below the costal margin. A digital rectal examination revealed the presence of melena. She had no jaundice, lymphadenopathy or finger clubbing but had bilateral pedal oedema. A provisional diagnosis of hepatocellular carcinoma complicated by upper gastrointestinal bleeding was made. Subsequent investigations revealed normal alpha fetoprotein, a Transient Elastography value of 75kPa and negative hepatitis B and C serology. Computerised tomography scan showed multiple liver masses with ascites. The patient continued to deteriorate despite supportive management and died on day 10 of admission. A post mortem was done which revealed a primary gastric adenocarcinoma with metastasis to the liver, lungs and pancreas.
 Conclusion: This is an example of a case of gastric cancer that was not detected while the patient was alive. It illustrates how cases of gastric cancer would be missed by the Zambia National Cancer Registry recording system.

Paediatric Bronchiectasis in a Resource-Constrained Centre: A Case Series

Bronchiectasis denotes fixed and often irreversible dilatation of the bronchial wall caused by persistent inflammation and infection. Children with bronchiectasis in developing countries suffer recurrent hospitalisation and poor quality of life and usually succumb to the condition. These children are poorly recognised, misdiagnosed, and under-reported. We report five cases of computerised tomography-diagnosed paediatric bronchiectasis managed at the Edward Francis Small Teaching Hospital (EFSTH), Banjul, The Gambia. The ages of the children at presentation ranged from 3 to 14 years, and they all had recurrent chest infections. Four out of the five cases had Pulmonary Tuberculosis, among whom two cases had HIV/TB co-infections, and the only non-TB, non-HIV case had features of Down syndrome with congenital heart lesions. All the cases had growth impairment; digital clubbing was observed in four, and low peripheral oxygen saturation in room air in three of the five children. These cases are reported to increase the index of suspicion among clinicians working in resource-limited settings to consider the diagnosis of bronchiectasis in children with recurrent chest infections. Early diagnosis and prompt management, including appropriate follow-up care, will improve the quality of life of these children and ensure better management outcomes.

A population-based study of 15,000 people on Knowledge and awareness of lung cancer symptoms and risk factors in Saudi Arabia.

Lung cancer is currently the most fatal form of cancer worldwide, ranking as the fourth most prevalent type in Saudi Arabia, particularly among males. This trend is expected to increase with growing population, lifestyle changes, and aging population. Understanding the awareness of the Saudi population regarding the risk factors and symptoms of lung cancer is necessary to attenuate the predicted increase in cases. A cross-sectional, population-based survey was performed using a previously validated questionnaire (Lung CAM). Multiple linear regression analysis was used to assess variables associated with deficiency in knowledge and awareness of risk factors and symptoms of lung cancer. Majority of the 15,099 respondents were male (65%), aged between 18 and 30 years (53%), 50% of which were educated up to a bachelor's degree level. Overall awareness of lung cancer signs and symptoms was 53%, with painful cough and coughing up blood being the best-known symptoms. Conversely, persistent shoulder pain (44%) and clubbing fingers (47%) were the least known lung cancer symptoms. Also, 60% of the respondents showed low confidence in identifying the signs and symptoms of lung cancer. The overall awareness of the risk factors for lung cancer development was 74%, with first-hand (74%) and second-hand (68%) smoking being the most known risk factors. However, only ≤ 62% know the other non-smoking risk factors. Awareness of the risk factors and symptoms of lung cancer depended on age, gender, education, marital and employment status (p < 0.001). Public awareness of the risk factors and symptoms of lung cancer in Saudi Arabia is inadequate and heavily dependent on education and socio-economic status. Awareness can be improved through campaigns to raise awareness about other lesser-known lung cancer risk factors and symptoms.

Genetic analysis and functional study of novel CFTR variants in Chinese children with cystic fibrosis

ObjectivesTo describe the clinical characteristics of Chinese cystic fibrosis (CF) patients and to investigate the variants of CFTR and their potential pathogenicity. Study designChinese patients with potential CF diagnosis were studied. Clinical data were reviewed retrospectively from medical records. Whole exome sequencing and genetic evaluation were conducted to explore potential gene variants. The disruption of the variants to protein structure and function was explored and validated using in vitro experiments and in silico analysis. ResultsFour patients were recruited to the study, three of them were diagnosed as CF, and one was diagnosed as CFTR-related disorder. The age at symptom onset for the patients in this study ranged from newborn to 6 years, while the age at diagnosis varied from 3 to 11 years. All four patients exhibited bilateral diffuse bronchiectasis with Pseudomonas aeruginosa infections, and three of them had malnutrition. Finger clubbing was observed in three patients, two of whom displayed mixed ventilatory dysfunction. The CFTR variants spectrum of Chinese children with CF differs from that of Caucasian. A total of six variants were identified, two of which were first reported (c.1219G > T [p.Glu407*] and c.1367delT [p.Ala457Leufs*12]). The nonsense variants c.1219G > T, c.1657C > T and c.2551C > T and the frameshift variant c.1367delT were predicted to introduce premature stop codon and produce shorten CFTR protein, which was also first validated by in vitro truncation assay in this study. The missense variant c.1810A > C was predicted to disrupt the function of the nucleotide-binding domain 1 (NBD1) in the CFTR protein. The splicing variant c.1766 + 5G > T caused skipping of exon 13 and damaged the integrity of CFTR protein. ConclusionsOur study expands the spectrum of phenotypes and genotypes for CF of Chinese origin, which differs significantly from that of Caucasian. Genetic analysis and counseling are crucial and deserve extensive popularization for the diagnosis ofCF in patients of Chinese origin.

Terminal endpoints of systemic atherosclerotic processes in sickle cell diseases

Background: Sickle cell diseases (SCD) are severe inflammatory processes in the vasculature mainly on capillary endothelium since they are the main distributors of hardened red blood cells into the tissues. On the other hand, aging and male gender alone may be the most significant underlying risk factors of the systemic atherosclerosis since male gender lives about seven years shorter than female gender worldwide. Methods: All patients with the SCD were included into the study. Results: The study included 222 males and 212 females with similar mean ages (30.8 versus 30.3 years, p&gt;0.05). Smoking (p&lt;0.001), alcohol (p&lt;0.001), disseminated teeth losses (p&lt;0.001), ileus (p&lt;0.001), cirrhosis (p&lt;0.001), leg ulcers (p&lt;0.001), digital clubbing (p&lt;0.001), coronary heart disease (CHD) (p&lt;0.05), chronic renal disease (CRD) (p&lt;0.05), chronic obstructive pulmonary disease (COPD) (p&lt;0.001), and stroke (p&lt;0.05) were all higher in male gender. Interestingly, mean ages of stroke (33.5 years), COPD (33.6 years), clubbing (35.4 years), CHD (35.7 years), cirrhosis (37.0 years), and CRD (39.4 years) were the highest among the other atherosclerotic consequences. Conclusion: Smoking, alcohol, disseminated teeth losses, ileus, cirrhosis, leg ulcers, digital clubbing, CHD, CRD, COPD, and stroke-like atherosclerotic risk factors or terminal endpoints were all higher in male gender with the SCD. Since aging alone may be the major associated factor of the systemic atherosclerosis, stroke, COPD, digital clubbing, CHD, cirrhosis, and CRD may be the terminal endpoints of systemic atherosclerotic processes in human body since the mean ages of the above pathologies were the highest among the other atherosclerotic consequences in the SCD. Key words: Sickle cell diseases, atherosclerosis, stroke, chronic obstructive pulmonary disease, digital clubbing, coronary heart disease, cirrhosis, chronic renal disease

Acute chest syndrome and coronavirus disease may actually be genetically determined exaggerated immune response syndromes particularly in pulmonary capillaries

Background: Sickle cell diseases (SCD) are severe inflammatory processes on vascular endothelium, particularly at the capillaries since the capillary system is the main distributor of hardened red blood cells into the tissues. Similarly, coronavirus disease (COVID-19) may also be a genetically determined inflammatory process particularly in pulmonary capillaries with much higher mortality rates in some families. Methods: All patients with the SCD were studied. Results: The study included 222 males and 212 females with similar mean ages (30.8 versus 30.3 years, p&gt;0.05, respectively). Smoking (23.8% versus 6.1%, p&lt;0.001), alcohol (4.9% versus 0.4%, p&lt;0.001), disseminated teeth losses (5.4% versus 1.4%, p&lt;0.001), ileus (7.2% versus 1.4%, p&lt;0.001), cirrhosis (8.1% versus 1.8%, p&lt;0.001), leg ulcers (19.8% versus 7.0%, p&lt;0.001), digital clubbing (14.8% versus 6.6%, p&lt;0.001), coronary heart disease (CHD) (18.0% versus 13.2%, p&lt;0.05), chronic renal disease (CRD) (9.9% versus 6.1%, p&lt;0.05), chronic obstructive pulmonary disease (COPD) (25.2% versus 7.0%, p&lt;0.001), and stroke (12.1% versus 7.5%, p&lt;0.05) were all higher but not acute chest syndrome (ACS), in males (2.7% versus 3.7%, p&gt;0.05). Conclusion: Although smoking, alcohol, disseminated teeth losses, ileus, cirrhosis, leg ulcers, digital clubbing, CHD, CRD, COPD, and stroke-like atherosclerotic end-points were all higher in males, prevalence of ACS was similar in both genders. In another definition, ACS and severe COVID-19 may be genetically determined exaggerated immune response syndromes particularly in pulmonary capillaries, and immunomodulatory drugs including dexamethasone probably should take the major role in the treatment. Key words: Acute chest syndrome, coronavirus disease, exaggerated immune response syndromes, sickle cell diseases, capillary endothelial inflammation, capillary endothelial edema, tissue hypoxia

Pachydermoperiostosis (Touraine-Solente–Gole Syndrome): A Case Report of Primary Hypertrophic Osteoarthropathy

Background: Pachydermoperiostosis (PDP), or primary hypertrophic osteoarthropathy (PHO), also known as the Touraine–Solente–Gole syndrome, is a genetic disorder that is uncommon and is identified by finger clubbing, skin thickening, and periosteal growth. Case Report: This case study details the case of a 21-year-old man with PDP to raise awareness, improve diagnosis, and enhance management strategies for the condition. The individual showed common signs like digital clubbing, pachydermia, and periostosis, as well as related symptoms like hyperhidrosis. Radiological imaging supported the diagnosis by revealing periosteal reactions and cortical thickening in multiple bones. Other conditions with comparable clinical characteristics were considered in the differential diagnosis, however, the diagnosis of PHO was confirmed by the specific radiological results and normal hormonal levels. The treatment primarily targets alleviating symptoms with drugs like NSAIDs and corticosteroids, along with newer options such as bisphosphonates. Conclusion: Timely detection and correct treatment are essential to enhance the well-being of people with PHO. This case study emphasizes the significance of tracking symptoms and offering thorough care to those with PDP/PHO.

Pulmonary Alveolar Proteinosis in a Three-month-old Infant: An Unusual Case Report

Pulmonary Alveolar Proteinosis (PAP) is an unusual diffuse lung disease characterised by the alveolar accumulation of phospholipoprotein material, with a peak incidence in the 3rd to 4th decades of life and a male predominance. However, it has also been described in children. The recorded prevalence is 0.1 per 100,000 individuals. The major clinicopathogenetic subtypes include the autoimmune (idiopathic) form, which is associated with Granulocyte-macrophage Colony-stimulating Factor (GM-CSF) autoantibodies, the secondary form and the congenital form (associated with surfactant gene mutations). Common presenting features include dyspnoea, cough, low-grade fever, inspiratory crackles and digital clubbing. Pulmonary function tests typically show restrictive ventilatory defects. Herein, the authors present a case of a three-month-old male infant who presented with cough, dyspnoea and failure to thrive over the past 10 days. X-rays revealed a bilateral reticular pattern with non homogeneous opacities. Computed Tomography (CT) of the chest showed features consistent with interstitial lung disease. High-resolution Computed Tomography (HRCT) demonstrated a crazy-paving appearance, suggestive of interstitial lung disease or a surfactant-related genetic disorder. Bronchial Alveolar Lavage (BAL) yielded milky fluid. Characteristic microscopic findings on lung biopsy included the filling of terminal bronchioles and alveolar spaces with deep pink granular Periodic Acid Schiff (PAS)-positive eosinophilic material, while the alveolar architecture remained preserved. Patients with minimal symptoms are managed conservatively, whereas those with hypoxaemia require a more aggressive approach. Whole Lung Lavage (WLL) is the safest and most effective form of treatment. To date, there have been 240 case reports and 410 case series documented in the literature. This is the first case of PAP reported in the study institution. The authors present this case report here due to its rarity and diagnostic significance.

Pulmonary arteriovenous malformations in Rendu-Osler-Weber syndrome.

Rendu-Osler-Weber syndrome, also known as hereditary hemorrhagic telangiectasia, is an autosomal dominant hereditary disorder. It is characterized by presence of multiple arteriovenous malformations (AVMs) and telangiectasias. This article reports two cases of patients with Rendu-Osler-Weber syndrome who had pulmonary AVMs and underwent successful endovascular treatment. A brief review of the literature shows that up to 50% of patients with the syndrome have pulmonary AVMs and there is usually a positive family history in these patients. These pulmonary AVMs are multiple in 30% of cases and are associated with the most severe disease complications. Most patients are asymptomatic, even in the presence of AVMs with right-left shunts. When these shunts exceed 25% of the total blood volume, dyspnea, cyanosis, digital clubbing, and extracardiac murmurs may occur. Endovascular treatment is safe and offers control of complications from hereditary hemorrhagic telangiectasia and is currently the treatment of choice for these lesions.

Nail Clubbing

A 78-year-old smoker patient with COPD (GOLD 3E) is admitted for COPD exacerbation. The initial examination shows abnormal fingers and nails. The hyponychial angle is 195 degrees and there is a positive Schamroth sign. A diagnosis of nail clubbing is made. Because the association of nail clubbing and COPD is rare, the history is completed and reveals significant weight loss over the past few months. A -pulmonary CT-scan shows a peri-hilar mass, and biopsy confirms small cell lung cancer.