Diagnosis of cystic lung diseases: a position statement from the UK Cystic Lung Disease Rare Disease Collaborative Network.

BACKGROUND: Rare cystic lung diseases are increasingly recognised due the wider application of CT scanning making cystic lung disease management a growing part of respiratory care. Cystic lung diseases tend to have extrapulmonary features that can both be diagnostic but also require surveillance and treatment in their own right. As some of these diseases now have specific treatments, making a precise diagnosis is crucial. While Langerhans cell histiocytosis, Birt-Hogg-Dubé syndrome, lymphoid interstitial pneumonia and lymphangioleiomyomatosis are becoming relatively well-known diseases to respiratory physicians, a targeted and thorough workup improves diagnostic accuracy and may suggest other ultrarare diseases such as light chain deposition disease, cystic pulmonary amyloidosis, low-grade metastatic neoplasms or infections. In many cases, diagnostic information is overlooked leaving uncertainty over the disease course and treatments. AIMS: This position statement from the Rare Disease Collaborative Network for cystic lung diseases will review how clinical, radiological and physiological features can be used to differentiate between these diseases. NARRATIVE: We highlight that in many cases a multidisciplinary diagnosis can be made without the need for lung biopsy and discuss where tissue sampling is necessary when non-invasive methods leave diagnostic doubt. We suggest an initial workup focusing on points in the history which identify key disease features, underlying systemic and familial diseases and a clinical examination to search for connective tissue disease and features of genetic causes of lung cysts. All patients should have a CT of the thorax and abdomen to characterise the pattern and burden of lung cysts and extrapulmonary features and also spirometry, gas transfer and a 6 min walk test. Discussion with a rare cystic lung disease centre is suggested before a surgical biopsy is undertaken. CONCLUSIONS: We suggest that this focused workup should be performed in all people with multiple lung cysts and would streamline referral pathways, help guide early treatment, management decisions, improve patient experience and reduce overall care costs. It could also potentially catalyse a national research database to describe these less well-understood and unidentified diseases, categorise disease phenotypes and outcomes, potentially leading to better prognostic data and generating a stronger platform to understand specific disease biology.

ACG Clinical Guideline: Focal Liver Lesions.

Focal liver lesions (FLLs) have become an increasingly common finding on abdominal imaging, especially asymptomatic and incidental liver lesions. Gastroenterologists and hepatologists often see these patients in consultation and make recommendations for management of multiple types of liver lesions, including hepatocellular adenoma, focal nodular hyperplasia, hemangioma, and hepatic cystic lesions including polycystic liver disease. Malignancy is important to consider in the differential diagnosis of FLLs, and healthcare providers must be familiar with the diagnosis and management of FLLs. This American College of Gastroenterology practice guideline uses the best evidence available to make diagnosis and management recommendations for the most common FLLs.

Frequency and features of malignant tumors clinically mimicking cutaneous cysts: A retrospective chart review.

BACKGROUND: Many cutaneous lesions are clinically suspected as "cyst"; however, following histopathological examination, are found to be more significant lesions. Here, we examine the frequency and features of malignancies with cutaneous cysts in the clinical differential. METHODS: A retrospective study of surgical pathology specimens at the James A. Haley Veterans' Hospital from January 2018 to December 2022 was conducted. Cutaneous specimens containing the clinical diagnosis of "cyst" were included. The clinicopathological features were summarized. RESULTS: Premalignant or malignant neoplasms accounted for 4.5% of all specimens submitted with cysts in the clinical differential. Most cyst-mimicking cancers were basal cell carcinoma (BCC) or squamous cell carcinoma (SCC); however, cancers with poorer prognoses, such as Merkel cell carcinoma and melanoma, also clinically masqueraded as cysts. The BCCs were predominately nodular, and the SCCs were largely well-differentiated and invasive. Many exhibited clinical signs and symptoms compatible with benign cysts, such as central punctum, pain, and rapid growth. Identified risk factors included history of prior non-melanoma skin cancer diagnosis, previous excision, and immunosuppression. CONCLUSIONS: Many lesions clinically concerning cutaneous cysts were found to be malignancies following histopathological review. Accordingly, following biopsy all cyst-like lesions should be examined microscopically, especially in certain clinical contexts in which the incidence of skin cancer is increased.

Early Pneumatocele Identification Post-Robotic Assisted Bronchoscopy Cryobiopsy: A Case Series Experience.

INTRODUCTION: The use of cryobiopsy in conjunction with robotic assisted bronchoscopy is on the rise due to the safety and increased diagnostic yield of cryobiopsy. The incorporation of 3D fluoroscopy in the procedure improves the workflow and helps confirm the accuracy of sampling of peripheral pulmonary nodules. METHODS: We describe an observational series of 12 patients comprising 14 nodules where cryobiopsy was performed during shape-sensing robot-assisted bronchoscopy cryobiopsy under general anesthesia. 3D fluoroscopy was used to confirm accurate placement of the cryoprobe. All these patients underwent a second spin with the 3D fluoroscopy either to sample a second lesion intraoperatively or to investigate suspected pneumothorax. RESULTS: The development of a pneumatocele was noted after cryobiopsy in each of the cases. The majority of these were in the upper lobe with the median size of a sampled nodule being 14 mm. The majority of patients were asymptomatic with 1 patient developing mild hemoptysis and 4 patients developing chest tightness or dyspnea. None of the patients required an intervention for the pneumatocele. CONCLUSION: The development of pneumatoceles appears to be a fairly frequent and benign occurrence following cryobiopsy, likely due to increased tissue destruction. The increased use of intraoperative 3D fluoroscopy is likely to highlight changes to the pulmonary parenchyma that were previously not known. The occurrence of pneumatoceles does not appear to adversely impact the safety or tolerability profile of cryobiopsy.

Multimodal imaging observation of primary vitreous cysts.

BACKGROUND: Primary vitreous cyst is a clinical variant delineated by the existence of a vesicle within the vitreous cavity from birth. This particular disease tends to be uncommon, and the underlying mechanisms contributing to its pathogenesis remain obscure. CASE PRESENTATION: A 37-year-old male patient manifested blurry vision and floaters in his right eye, a symptomology first noticed three months prior. Upon slit-lamp examination, a pigmented, round, 1 papilla diameter-sized mass was discerned floating in the vitreous. A meticulous examination of the floaters was conducted using an array of multimodal imaging techniques. Other potential conditions, including cysticercosis, toxoplasmosis, and tumors, were conclusively excluded through comprehensive diagnostic tests such as blood examinations, liver ultrasound, and cranial magnetic resonance imaging (MRI), resulting in the diagnosis of a primary vitreous cyst. The patient did not report any other discomforts and did not receive any subsequent interventions or treatments. CONCLUSION: We furnish an exhaustive case report of a patient diagnosed with a primary vitreous cyst. The incorporation of multimodal images in the characterization of the disease anticipates facilitating an enriched comprehension by medical practitioners.

[Enteritis cystica profunda]. / L'entérite kystique profonde.

Enteritis cystica profunda is a rare and benign disease defined as the invagination of the intestinal epithelium into the submucosa and more profound layers of intestinal wall leading to the formation of mucin-filled cystic spaces. We reported the case of a 45-year-old female, suffering from a Crohn's disease, with a Koenig's syndrome, diarrhea, abdominal pain and weight loss. The colonoscopy and the abdominopelvic scan showed a terminal ileal stenosis, with parietal calcifications. A surgical ileocecal resection was decided. Gross examination of the ileocecal resection showed a thickening of the ileal wall, with many mucin-filled cysts measuring 1mm to 2cm, with some calcifications. The ileal mucosa was ulcerated, and showed a stenotic sector extending over 3cm. Histological examination showed acute ulcerated ileitis lesions, with chronic ileitis lesions and stenosis, compatible with the known diagnosis of Crohn's disease. There were also many cysts into the ileal wall. They were lined with a regular ileal epithelium. The cysts contained mucus, with some calcifications. Some cysts were ruptured, with extravasation of mucus within the wall. Cystica profunda can be found anywhere along the digestive tract. The physiopathology is not yet well understood, but it seems to be favored by chronic aggression of the intestinal wall. This pathology most often coexists with Crohn's disease. The main differential diagnosis is mucinous adenocarcinoma. Cystica profunda does not require any specific treatment.

Nasopalatine canal cyst, a diagnostic twist.

We present a case of nasopalatine duct cyst in a 35-yearold female. The cyst was diagnosed based on the presence of only one clinical symptom and no obvious clinical signs, which is a relatively rare occurrence. However, the radiographic and histological presentation of this lesion was typical of a nasopalatine duct cyst. Therefore, this case report aims to highlight the variable presentations of the nasopalatine cyst, which is often misdiagnosed and treated as an endodontic infection.

Diagnosis and Surgical Treatment of a Renal Cyst Causing Unilateral Lameness in a Golden Eagle (Aquila chrysaetos).

This report describes the diagnosis and treatment of a benign renal cyst in an adult, female golden eagle (Aquila chrysaetos) presented for unilateral leg lameness. A cyst at the cranial division of the left kidney was diagnosed by computed tomography and was suspected of compressing the lumbosacral nerve plexus, resulting in limb lameness. The renal cyst was incompletely excised because the cyst wall was closely adhered to the kidney parenchyma and local blood supply. Fluid analysis and surgical biopsy of the cyst and left kidney confirmed the diagnosis of a benign renal cyst. No evidence of an infectious, inflammatory, or neoplastic etiology was noted. Postoperatively, the eagle's lameness resolved and the bird was ultimately released following recovery. During treatment for the renal cyst, the eagle was concurrently found to have increased serum titers on elementary body agglutination for Chlamydia psittaci and a positive titer for Aspergillus species antibody testing. The bird was administered doxycycline, azithromycin, and voriconazole for treatment of these potential pathogens prior to release. Unfortunately, the eagle was found dead 86 days postrelease due to an unknown cause. To the authors' knowledge, this is the first report of a golden eagle with a benign solitary renal cyst causing unilateral lameness secondary to nerve compression that was resolved with surgical excision.

[Diffuse cystic lung disease]. / Cystische Lungenerkrankungen.

INTRODUCTION: Diffuse cystic lung disease (DCLD) represents a heterogeneous group of conditions, typically characterized by the presence of multiple thin-walled, predominantly round parenchymal lucencies. The increased accessibility of computed tomography (CT) underscores the growing relevance of a relatively rare group of diseases as more clinicians are confronted with the presence of multiple lung cysts on the chest CT scan. Although the etiology of these conditions is very diverse, the focus of the differential diagnosis revolves around four primary causative factors - Lymphangioleiomyomatosis (LAM), Pulmonary Langerhanscell histiocytosis (PLCH), Birt-Hogg-Dubé (BHD) and lymphoid interstitial pneumonia (LIP). Achieving an accurate diagnosis poses a challenge and typically necessitates lung biopsies; however, it is crucial for ensuring proper management.

[Non-functioning parathyroid cysts]. / Nefunktsional'nye kisty okoloshchitovidnykh zhelez.

OBJECTIVE: To study the features of clinical course, diagnosis and treatment of true non-functioning parathyroid cysts. MATERIAL AND METHODS: We retrospectively analyzed 18 patients with non-functioning true parathyroid cysts. Inclusion criteria: US-confirmed anechoic lesion of the neck without tissue component, cytological data on cystic lesion, high cystic parathyroid hormone and no laboratory signs of hyperparathyroidism. RESULTS: Non-functioning parathyroid cysts were asymptomatic and diagnosed accidentally after ultrasound of the neck. All patients were women aged 35-77 years. Four patients had cysts near the upper parathyroid glands, 14 patients - near the lower parathyroid glands. Of these, 2 ones had cysts below the level of the clavicle. Cyst volume was 4.3-110.3 cm3 (24.1±26.2 cm3). High cystic parathyroid hormone (2012.5±946.7 pg/ml) was observed in all patients. Simple aspiration was performed in 5 patients, aspiration with sclerotherapy - in 10 patients, cystectomy - in 3 patients. Recurrence was diagnosed in 1 patient after aspiration and 2 patients after sclerotherapy. CONCLUSION: No pathognomonic clinical and ultrasonic symptoms, as well as specific cytological data lead to misdiagnosis. Analysis of PTH in non-functioning parathyroid cysts is essential for diagnosis. Minimally invasive treatment is preferable for true parathyroid cysts. However, these approaches are not radical.

[A clinical case of successful treatment of an air cyst of the larynx]. / Klinicheskii sluchai uspeshnogo lecheniya vozdushnoi kisty gortani.

Laryngeal air cyst (laryngocele) is a rare disease that is an abnormal cystic expansion of the deep structures of the laryngeal ventricle. They can be accompanied by serious complaints, such as shortness of breath, difficulty breathing during exercise, as well as at rest with large cysts. Computed tomography is the most effective method for determining the type, localization and degree of laryngocele. Although surgical treatment is considered the method of choice in cases of laryngeal air cyst, the approach significantly depends on the size of the lesion.

Bartholin's gland cyst caused by Sneathia amnii: a case report.

BACKGROUND: Sneathia amnii is a conditional pathogen of the female genital tract that is involved in bacterial vaginosis and poor reproductive and perinatal outcomes. Few studies have reported subcutaneous cysts following invasive infection caused by S amnii. CASE PRESENTATION: Here we report the case of a 27-year-old woman who presented with Bartholin's gland cyst due to S amnii infection, and was successfully treated with surgical neostomy and antibiotic agents. The isolate was gram-negative, bacillary, anaerobic, and was identified by polymerase chain reaction (PCR) amplification of the 16 S rRNA. CONCLUSIONS: S amni is an important but underappreciated pathogen that needs further investigation. This report describes the microbial and pathogenic characteristics of S amnii and is expected to provide a valuable reference in obstetric and gynecologic clinical practice.

A diagnostic conundrum: Is it a periurethral diverticulum/cyst or a bulking agent (Bulkamid)?

INTRODUCTION: Urethral bulking agents are commonly used to manage female stress urinary incontinence (SUI) as they have been suggested to be safe, efficacious, and a minimally invasive surgical option. Bulkamid is a newer bulking agent that has been introduced and promoted in the market for use. It is non-particulate in nature with high tissue biocompatibility, and consequently, it is difficult to differentiate between Bulkamid and a periurethral cyst on magnetic resonance imaging (MRI). This, therefore, presents a diagnostic dilemma. METHODS AND MATERIALS: Here we describe two cases with previous injections of Bulkamid referred to our Centre for management of a presumed periurethral diverticulum based on MRI findings. Both patients were reviewed and examined in outpatient clinics with MRI findings discussed at MDT, further imaging was required. RESULTS: We found that a limited noncontrast computed tomography (CT) pelvis, followed by a voiding cystometrogram (VCMG), and then a repeat limited noncontrast CT pelvis effectively differentiated between Bulkamid and these presumed periurethral diverticulae. The theory behind this was that during micturition, the contrast would pass through to the urethral diverticulum and appear as high-density (bright) material within the periurethral region (the pre-VCMG was required to prove that any high-density material was due to the contrast and not pre-existing high-contrast material). CONCLUSION: A CT scan done in conjunction with a VCMG is likely to be more effective in differentiating between Bulkamid and a true periurethral diverticulum than an MRI scan. Appropriate diagnostic evaluation of periurethral lesions can lead to time-saving and cost-effective patient management as this will bypass the need for unnecessary investigations and possible unwarranted surgical intervention.

Evaluation and management of urethral and periurethral masses in women.

PURPOSE OF REVIEW: Female periurethral masses are an uncommon occurrence. The purpose of this review is to describe etiologies of female urethral and periurethral masses and to provide an update on diagnosis and management. RECENT FINDINGS: The most common causes of periurethral and urethral masses in women are urethral caruncles, urethral diverticula, and Skene's gland cysts. Urethral meatal lesions such as urethral caruncles and prolapse can be managed conservatively with topical estrogen therapy and close follow-up or should be excised in the setting of thrombosis, significant or recurrent bleeding, acute urinary retention, or persistent pain. Benign periurethral gland masses, such as Skene's gland cysts, Gartner's duct cysts, and Mullerian duct cysts, remain rare. Recent case series reveal a high rate of surgical management of these lesions with few complications. Urethral malignancy or malignant transformation of benign etiologies are even rarer but can be aggressive in nature and should be treated promptly. SUMMARY: Nonspecific urinary and vaginal symptoms as well as similar physical presentations make diagnosis of urethral and periurethral lesions in females difficult. Magnetic resonance imaging is useful for differentiation of periurethral masses. The decision for conservative or surgical management is typically guided by patient symptom bother, as well as concern for urethral malignancy.

Fetal abdominal cysts: Predicting adverse outcomes.

INTRODUCTION: The primary aim of the study was to identify risk factors associated with fetal or neonatal loss, neonatal morbidity, and the need for surgery in fetuses diagnosed with an abdominal cyst. The secondary aim was to compare the characteristics of the cyst according to trimester at diagnosis. MATERIAL AND METHODS: This was an observational retrospective study performed at Vall d'Hebron University Hospital. The study included pregnant women aged 18 years or older with diagnosis of a fetal abdominal cyst from 2008 to 2021. RESULTS: A total of 82 women with a median gestational age of 31+1 weeks (12+0-39+4) were included in the analysis. Seven (8.5%) cases were diagnosed in the first trimester, 28 (34.1%) in the second trimester, and 47 (57.3%) in the third trimester. Fetal or neonatal loss occurred in 10 (12.2%) cases; significant predictors were diagnosis in the first trimester (OR 36.67, 95% CI: 4.89-274.79), male gender (OR 4.75, 95% CI: 1.13-19.9), and associated abnormalities (OR 15.2, 95% CI: 2.92-79.19). A total of 10 of 75 (13.3%) neonates showed at least one neonatal complication, and the only predictor was occurrence of associated abnormalities (OR 7.36, 95% CI: 1.78-30.51). A total of 16 of 75 (21.3%) neonates required postnatal surgery, and the predictors were second-trimester diagnosis (OR 3.92, 95% CI: 1.23-12.51), associated abnormalities (OR 3.81, 95% CI: 1.15-12.64), and bowel location (OR 10.0, 95% CI: 1.48-67.55). CONCLUSIONS: Factors associated with adverse outcomes in fetuses diagnosed with abdominal cysts are first-trimester diagnosis and associated abnormalities. Cysts detected in the second trimester and those of intestinal origin are more likely to require surgery.

Symptomatic intraventricular choroid plexus cysts. Illustrative case and systematic review.

Although choroid plexus cysts are a frequent incidental neuroimaging finding, symptomatic ones are rare-a series of more than five cases are hard to find. In the absence of high-volume studies, there are no generally accepted algorithms for diagnosis and treatment for this pathology. Proposed surgical techniques include microsurgical excision or fenestration and endoscopic excision or fenestration with or without additional shunting. No definitive conclusions exist about the superiority of a certain technique. Here, we introduce an illustrative case of a patient with a symptomatic choroid plexus cyst in the trigone of the lateral ventricle and a systematic review of 65 additional published cases with the aim of identifying epidemiological features, variants of localization of the cysts, their symptoms, persistence of concomitant obstructive hydrocephalus, and treatment modalities. A PRISMA-based literature search was performed on the PubMed, MEDLINE, Scopus, and Web of Knowledge databases. We include in the review case reports and case series of symptomatic choroid plexus cysts with full texts or valuable abstracts available online in English and published by April 2023. All abstracts of retrieved studies were assessed by two independent researchers to avoid bias. Only descriptive statistics were used for the presentation of the results. A total of 48 studies (39 case reports and 9 case series) with 65 depicted cases met the eligibility criteria. The review showed a slight predominance of choroid plexus cysts in men. The most common localizations of cysts were the trigone and the body of the lateral ventricle. Obstructive hydrocephalus is often present in patients with choroid plexus cysts. The most common symptoms of cysts were signs of increased ICP: headaches and vomiting. The main treatment approaches for symptomatic choroid plexus cysts were microsurgical excision, microsurgical fenestration, endoscopic fenestration, and total endoscopic excision. The tendency has been noted to shift from microsurgical to endoscopic procedures over the past two decades. Some data on the classification of cysts of the central nervous system and the underlying mechanisms of the pathogenesis of choroid plexus cysts are also presented.Although symptomatic cases of choroid plexus cysts are rare, by summarizing currently available data, one could clarify their common features and identify a preferable treatment modality.

Eccrine Cyst (Hidrocystoma) of the Inner Canthus: A Rare Entity With Immunohistologic Confirmation.

A small ruptured cyst was excised from the left inner canthus of a 68-year-old woman. Histopathology displayed a cyst lined by a double layer of cuboidal epithelium and filled with amorphous material. The lining cells were strongly positive for cytokeratins 5/6 and 14, with weak reactivity with cytokeratin 7. These findings were identical to those in a single previous report of an eccrine cyst of the eyelid, making this the second example of a bona fide eccrine hidrocystoma of the eyelid.

Giant Lacrimal Gland Cyst in a Pediatric Patient: Case Report and Review of the Literature.

Lacrimal gland cysts are rare clinical entities in the pediatric population. Herein is described a 6-year-old male patient presenting with progressive left upper lid ptosis, found to have a large ipsilateral superotemporal orbital mass. Diagnosis of a giant lacrimal gland cyst was confirmed excisional biopsy. Despite the resolution of mechanical blepharoptosis, the patient maintained visual acuity limitation due to suspected deprivation amblyopia. The pathophysiology and clinical manifestations of lacrimal gland cysts in the pediatric population are reviewed to emphasize the importance of expedited identification and management in this patient cohort.

Coloboma Accompanying Microphthalmos With Orbital Cyst in a Mother and Child.

Microphtalmos with orbital cyst is a rare congenital abnormality of the eye and orbit that is caused by incomplete closure of the embryonic fissure. The cysts project through in a coloboma of the affected eye. It may be sporadic or genetic. Herein, the authors present a 32-year-old mother with unilateral and her 4-month-old daughter with bilateral microphtalmos and accompanying orbital cyst.

Retrobulbar respiratory epithelial orbital cyst in a dog: A case report.

A 10-month-old female, neutered French Bulldog presented with a history of unilateral right-sided intermittent conjunctivitis and exophthalmos. The patient suffered blunt force trauma to the right eye after a tennis ball impact approximately five months prior to presentation. Examination identified the patient was visual with exophthalmos, lateral strabismus, conjunctival hyperaemia, episcleral congestion, and papilloedema. Magnetic resonance imaging and ultrasonography identified an approximately two centimeter diameter fluid-filled structure directly posterior to the globe leading to displacement of the optic nerve and distortion of the posterior globe wall. Centesis of the lesion demonstrated neutrophilic and macrophagic inflammation with evidence of prior hemorrhage. Within four weeks, the structure had re-filled to its original size and was subsequently excised in its entirety, via a lateral orbitotomy. Histopathologic findings indicated a non-keratinising orbital cyst, the lining of which was consistent with a respiratory epithelial cyst. Recurrence had not occurred seven months' post-surgery. To the author's knowledge, previous reports of retrobulbar respiratory epithelial cysts have not been documented in animals.