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Anais Brasileiros de Dermatologia May 2024Hailey-Hailey disease is a rare genodermatosis described in 1939, with an autosomal dominant inheritance pattern, characterized by compromised adhesion between epidermal...
Hailey-Hailey disease is a rare genodermatosis described in 1939, with an autosomal dominant inheritance pattern, characterized by compromised adhesion between epidermal keratinocytes. It has an estimated prevalence of 1/50,000, with no gender or race predilection. It results from a heterozygous mutation in the ATP2C1 gene, which encodes the transmembrane protein hSPA1C, present in all tissues, with preferential expression in keratinocytes. Mutations in the ATP2C1 gene cause changes in the synthesis of junctional proteins, leading to acantholysis. It usually begins in adulthood, with isolated cases at the extremes of life. It manifests as vesico-bullous lesions mainly in the flexural areas, which develop into erosions and crusts. Chronic lesions may form vegetative or verrucous plaques. Pruritus, a burning feeling and pain are common. It evolves with periods of remission and exacerbation, generally triggered by humidity, friction, heat, trauma and secondary infections. The diagnosis is based on clinical and histopathological criteria: marked suprabasal acantholysis, loosely joined keratinocytes, giving the appearance of a "dilapidated brick wall", with a few dyskeratotic cells. The acantholysis affects the epidermis and spares the adnexal epithelia, which helps in the differential diagnosis with pemphigus vulgaris. Direct immunofluorescence is negative. The main differential diagnoses are Darier disease, pemphigus vegetans, intertrigo, contact dermatitis, and inverse psoriasis. There is no cure and the treatment is challenging, including measures to control heat, sweat and friction, topical medications (corticosteroids, calcineurin inhibitors, antibiotics), systemic medications (antibiotics, corticosteroids, immunosuppressants, retinoids and immunobiologicals) and procedures such as botulinum toxin, laser and surgery. There is a lack of controlled clinical trials to support the choice of the best treatment.
PubMed: 38789364
DOI: 10.1016/j.abd.2023.12.003 -
International Journal of Surgery Case... Jun 2024Abdominal pregnancy is an extremely rare form of ectopic gestation, and it presents with pelvic pain, severe bleeding, or remain asymptomatic. Its Risk factors include...
INTRODUCTION
Abdominal pregnancy is an extremely rare form of ectopic gestation, and it presents with pelvic pain, severe bleeding, or remain asymptomatic. Its Risk factors include previous ectopic pregnancies, cesarean section, smoking, pelvic inflammatory disease, using intrauterine devices (IUD), and assisted reproductive techniques (ARTs). Accurate diagnosis of rectal ectopic pregnancy remains challenging due to the lack of well-established diagnostic criteria.
CASE PRESENTATION
A 25-year-old woman presented to the emergency department with a 2-day history of unresponsive lower abdominal pain and nausea. Ultrasound imaging revealed a normal-sized uterus with endometrial thickness, fluids, and clots in the abdominal cavity, but no intrauterine gestational sac was detected. Based on the clinical presentation, ectopic pregnancy was suspected. During laparotomy, the placenta and fetal tissue remnants were found on the anterior wall of the upper third of the rectum.
DISCUSSION
Abdominal ectopic pregnancy is a high-risk condition that can manifest with gastrointestinal symptoms such as nausea, vomiting, constipation, as well as abdominal and pelvic pain. These variable symptoms underscore the importance of considering rectal ectopic pregnancy as a differential diagnosis and ruling it out to prevent life-threatening complications, including severe bleeding.
CONCLUSION
Due to its rarity, diverse presentation, and similarity to other conditions, diagnosing rectal ectopic pregnancy and determining the appropriate management can be challenging. Physicians should be aware of this specific type of ectopic pregnancy to enable early-stage diagnosis and provide optimal care.
PubMed: 38788636
DOI: 10.1016/j.ijscr.2024.109798 -
Medicine May 2024The most common subtype of primary lymphoma of the ocular adnexa is the mucosa-associated lymphoid tissue (MALT) subtype. MALT lymphoma of the lacrimal gland is... (Review)
Review
RATIONALE
The most common subtype of primary lymphoma of the ocular adnexa is the mucosa-associated lymphoid tissue (MALT) subtype. MALT lymphoma of the lacrimal gland is relatively rare among the lacrimal gland tumors, and the early clinical symptoms are atypical, which can easily lead to misdiagnosis and missed diagnosis. Here, we report a case of MALT lymphoma of the lacrimal gland and explore its clinical manifestations, pathological characteristics, management, and pathogenesis, with the aim of helping clinicians gain an in-depth understanding of ocular adnexal MALT lymphoma.
PATIENT CONCERNS
A 60-year-old man presented to our hospital with proptosis and diplopia. The right eye deviated and shifted toward the lower part of the nose.
DIAGNOSIS
Orbital enhanced magnetic resonance imaging suggested a mass with a maximum cross-section of 3.2 × 2.1 cm. T1 weighted image was isointense, and the enhancement was more uniform and obvious.
INTERVENTIONS
The right orbital mass was treated surgically, and the final pathology report was MALT lymphoma. After the pathological report was released, the patient was transferred to the hematology department for further diagnosis and no further treatment was given eventually.
OUTCOMES
Seven months later, the patient did not complain of discomfort. Whole-body positron emission tomography-computed tomography, superficial lymph node examination and orbital magnetic resonance imaging revealed no abnormal changes.
LESSONS
The clinical manifestations of MALT lymphoma are heterogeneous. Imaging examination is important for assessing the size of the tumor and its relationship with adjacent tissues. Postoperative pathological examination may provide further evidence for the evaluation of the patient's surgical efficacy and prognosis. Management of MALT lymphoma of the lacrimal gland requires a multidisciplinary approach involving ophthalmologists, hematologists, and radiotherapists.
Topics: Humans; Lymphoma, B-Cell, Marginal Zone; Middle Aged; Male; Eye Neoplasms; Lacrimal Apparatus; Magnetic Resonance Imaging; Lacrimal Apparatus Diseases
PubMed: 38787969
DOI: 10.1097/MD.0000000000038303 -
Pathogens (Basel, Switzerland) Apr 2024Female genital tract infections (FGTIs) include vaginal infections (e.g., bacterial vaginosis [BV]), endometritis, pelvic inflammatory disease [PID], and... (Review)
Review
Female genital tract infections (FGTIs) include vaginal infections (e.g., bacterial vaginosis [BV]), endometritis, pelvic inflammatory disease [PID], and chorioamnionitis [amniotic fluid infection]. They commonly occur in women of reproductive age and are strongly associated with multiple adverse health outcomes including increased risk of HIV/sexually transmitted infection acquisition and transmission, infertility, and adverse birth outcomes such as preterm birth. These FGTIs are characterized by a disruption of the cervicovaginal microbiota which largely affects host immunity through the loss of protective, lactic acid-producing spp. and the overgrowth of facultative and strict anaerobic bacteria. species (spp.), anaerobic Gram-negative rods, are implicated in the pathogenesis of multiple bacterial FGTIs. Specifically, , , and have unique virulence factors in this setting, including resistance to antibiotics commonly used in treatment. Additionally, evidence suggests that the presence of spp. in untreated BV cases can lead to infections of the upper female genital tract by ascension into the uterus. This narrative review aims to explore the most common spp. in FGTIs, highlight their important role in the pathogenesis of FGTIs, and propose future research in this area.
PubMed: 38787215
DOI: 10.3390/pathogens13050364 -
Revista Da Associacao Medica Brasileira... 2024The aim of this study was to observe the feasibility of the tubal/adnexal approach using vaginal natural orifice transluminal endoscopic surgery and compare its...
OBJECTIVE
The aim of this study was to observe the feasibility of the tubal/adnexal approach using vaginal natural orifice transluminal endoscopic surgery and compare its contribution with surgeon ergonomics and postoperative patient comfort with that of conventional laparoscopy.
METHODS
We completed this study retrospectively with 47 patients. Patients were followed at their postoperative first month. We analyzed the usability of the vaginal natural orifice transluminal endoscopic surgery method over conventional laparoscopy by comparing the demographics, surgical data, and postoperative findings collected between the two groups.
RESULTS
Patients in the conventional laparoscopy group were older (39.1±3.3 years) than those in the vaginal natural orifice transluminal endoscopic surgery patient group (p=0.005). Pain intensity 24 h after surgery was lower in the vaginal natural orifice transluminal endoscopic surgery group (p=0.003), while sexual function and dyspareunia did not differ between the two groups in the first month. Patients in the vaginal natural orifice transluminal endoscopic surgery group were more relieved about painlessness and the comfort it brought than the conventional laparoscopy group (p=0.027, χ2=12.56).
CONCLUSION
Patients subjected to the vaginal natural orifice transluminal endoscopic surgery procedure showed higher levels of satisfaction, less postoperative pain, and greater comfort than those subjected to conventional laparoscopy.
Topics: Humans; Female; Natural Orifice Endoscopic Surgery; Adult; Retrospective Studies; Laparoscopy; Pain, Postoperative; Sterilization, Tubal; Middle Aged; Feasibility Studies; Patient Satisfaction; Vagina; Patient Comfort; Treatment Outcome
PubMed: 38775529
DOI: 10.1590/1806-9282.20231085 -
Indian Journal of Ophthalmology May 2024To explore the clinicopathological characteristics of immunoglobulin G4 (IgG4)-positive ocular adnexal marginal zone B-cell lymphoma (OAML) and associated patient...
PURPOSE
To explore the clinicopathological characteristics of immunoglobulin G4 (IgG4)-positive ocular adnexal marginal zone B-cell lymphoma (OAML) and associated patient treatment outcomes.
METHODS
Medical records from patients diagnosed with IgG4-positive OAML treated at the West China Hospital between January 2016 and August 2023 were retrospectively analyzed.
RESULTS
This study included data from 22 patients (11 males, 11 females), aged between 36 and 83 years, with disease durations from 1 month to 30 years. Sixteen cases exhibited unilateral ocular involvement (ten left eyes, six right eyes), while six exhibited bilateral involvement. Common clinical symptoms included ocular masses, eyelid swelling, and proptosis, with the orbit and lacrimal gland being the most commonly impacted sites. Among the 22 patients, 13 who were clinically suspected of having IgG4-related ophthalmic disease (IgG4-ROD) underwent serum IgG4 testing pre-operatively, revealing elevated IgG4 levels in 11 of these patients. The use of computed tomography and magnetic resonance imaging facilitated the evaluation of the location and size of lesions. All 22 patients received surgical treatment. Subsequently, 14 of these patients underwent local radiotherapy, five received post-operative chemotherapy, and three were closely observed. The follow-up period of patients in this study was 3-77 months, with an average follow-up time of 36 months. Except for one patient who died of disease progression, all others showed favorable prognoses with significant improvements.
CONCLUSIONS
These results support the classification of IgG4-positive OAML as a distinct OAML sub-type with clinical features that partially overlap with IgG4-ROD. Therefore, accurate differentiation between OAML and IgG4-ROD is imperative, necessitating timely surgical intervention and precise pathological diagnosis to prevent diagnostic errors and inappropriate treatment. Currently, no standardized treatments for IgG4-positive OAML exist, but our results suggest that standard OAML therapies are generally efficacious.
PubMed: 38767546
DOI: 10.4103/IJO.IJO_2560_23 -
International Journal of Surgery Case... Jun 2024Epidermoid cysts may occur due to anomalies during fetal development, approximately 1-2 % occur in the oral cavity. A cyst lumen filled with fluid or keratin without...
INTRODUCTION
Epidermoid cysts may occur due to anomalies during fetal development, approximately 1-2 % occur in the oral cavity. A cyst lumen filled with fluid or keratin without skin adnexal structures (such as hair, hair follicle, sweat gland, sebaceous gland) can be defined as epidermoid cyst. 7 % of these cysts occur in the head and neck, 1.6 % of which appear in the oral cavity. Gender distribution is balanced but more prevalent in males. Epidermoid cysts are the most common cutaneous cysts. These cysts are rarely discovered prior to puberty. It has been reported that 1 % of epidermoid cysts will malignantly develop into squamous cell carcinoma (SCC) or basal cell carcinoma (BCC).
CASE PRESENTATION
18-year-old male patient presented with 57.99 × 55.33 × 41.41 mm-sized epidermoid cyst treated at the Regional Hospital in Indonesia. The primary complaint was a painless, asymptomatic lump on the floor of the mouth which was felt 10 years ago. Two years prior, the lump enlarged, and the patient began to feel difficulty in swallowing, and respiratory distress appeared one year later. Supplementary examinations: ultrasonography, fine needle aspiration biopsy, plain radiography, multiple slice computed tomography scan was performed to support epidermoid cyst diagnosis.
DISCUSSION
An intraoral approach-based cystectomy with a horizontal incision was utilized for surgical treatment to avoid adjacent anatomic structure. Histopathological examination showed a macroscopic image of pouch tissue with approximately 0.2 cm-thick wall, brownish white in color with yellow mass like cheese pulp, and microscopic image of tissue covered with monomorphous complex squamous epithelium with eosinophilic keratinized mass lumen.
CONCLUSION
Following the procedure, there was no longer respiratory distress nor difficulty in swallowing and the patient recovered well with no deficiency in aesthetics.
PubMed: 38761688
DOI: 10.1016/j.ijscr.2024.109729 -
Cancer Cell Jun 2024In acral melanoma (AM), progression from in situ (AMis) to invasive AM (iAM) leads to significantly reduced survival. However, evolutionary dynamics during this process...
In acral melanoma (AM), progression from in situ (AMis) to invasive AM (iAM) leads to significantly reduced survival. However, evolutionary dynamics during this process remain elusive. Here, we report integrative molecular and spatial characterization of 147 AMs using genomics, bulk and single-cell transcriptomics, and spatial transcriptomics and proteomics. Vertical invasion from AMis to iAM displays an early and monoclonal seeding pattern. The subsequent regional expansion of iAM exhibits two distinct patterns, clonal expansion and subclonal diversification. Notably, molecular subtyping reveals an aggressive iAM subset featured with subclonal diversification, increased epithelial-mesenchymal transition (EMT), and spatial enrichment of APOE/CD163 macrophages. In vitro and ex vivo experiments further demonstrate that APOECD163 macrophages promote tumor EMT via IGF1-IGF1R interaction. Adnexal involvement can predict AMis with higher invasive potential whereas APOE and CD163 serve as prognostic biomarkers for iAM. Altogether, our results provide implications for the early detection and treatment of AM.
Topics: Humans; Melanoma; Epithelial-Mesenchymal Transition; Skin Neoplasms; Antigens, Differentiation, Myelomonocytic; Antigens, CD; Neoplasm Invasiveness; Apolipoproteins E; Macrophages; Male; Female; Receptor, IGF Type 1; Tumor Microenvironment; Biomarkers, Tumor; Gene Expression Regulation, Neoplastic; Spatial Analysis; Middle Aged; Prognosis; Disease Progression; Aged; Receptors, Cell Surface
PubMed: 38759655
DOI: 10.1016/j.ccell.2024.04.012 -
Frontiers in Medicine 2024Surgery remains the main treatment option for an adnexal mass suspicious of ovarian cancer. The malignancy rate is, however, only 10-15% in women undergoing surgery....
BACKGROUND
Surgery remains the main treatment option for an adnexal mass suspicious of ovarian cancer. The malignancy rate is, however, only 10-15% in women undergoing surgery. This results in a high number of unnecessary surgeries. A surveillance-based approach is recommended to form the basis for surgical referrals. We have previously reported the clinical performance of MIA3G, a deep neural network-based algorithm, for assessing ovarian cancer risk. In this study, we show that MIA3G markedly improves the surgical selection for women presenting with adnexal masses.
METHODS
MIA3G employs seven serum biomarkers, patient age, and menopausal status. Serum samples were collected from 785 women (IQR: 39-55 years) across 12 centers that presented with adnexal masses. MIA3G risk scores were calculated for all subjects in this cohort. Physicians had no access to the MIA3G risk score when deciding upon a surgical referral. The performance of MIA3G for surgery referral was compared to clinical and surgical outcomes. MIA3G was also tested in an independent cohort comprising 29 women across 14 study sites, in which the physicians had access to and utilized MIA3G prior to surgical consideration.
RESULTS
When compared to the actual number of surgeries ( = 207), referrals based on the MIA3G score would have reduced surgeries by 62% ( = 79). The reduction was higher in premenopausal patients (77%) and in patients ≤55 years old (70%). In addition, a 431% improvement in malignancy prediction would have been observed if physicians had utilized MIA3G scores for surgery selection. The accuracy of MIA3G referral was 90.00% (CI 87.89-92.11), while only 9.18% accuracy was observed when the MIA3G score was not used. These results were corroborated in an independent multi-site study of 29 patients in which the physicians utilized MIA3G in surgical consideration. The surgery reduction was 87% in this cohort. Moreover, the accuracy and concordance of MIA3G in this independent cohort were each 96.55%.
CONCLUSION
These findings demonstrate that MIA3G markedly augments the physician's decisions for surgical intervention and improves malignancy prediction in women presenting with adnexal masses. MIA3G utilization as a clinical diagnostic tool might help reduce unnecessary surgeries.
PubMed: 38756943
DOI: 10.3389/fmed.2024.1374836 -
Frontiers in Oncology 2024This study aims to systematically compare the diagnostic performance of the Ovarian-Adnexal Reporting and Data System with the International Ovarian Tumor Analysis...
PURPOSE
This study aims to systematically compare the diagnostic performance of the Ovarian-Adnexal Reporting and Data System with the International Ovarian Tumor Analysis Simple Rules and the Assessment of Different NEoplasias in the adneXa model for risk stratification of ovarian cancer and adnexal masses.
METHODS
A literature search of online databases for relevant studies up to July 2023 was conducted by two independent reviewers. The summary estimates were pooled with the hierarchical summary receiver-operating characteristic model. The quality of the included studies was assessed with the Quality Assessment of Diagnostic Accuracy Studies-2 and the Quality Assessment of Diagnostic Accuracy Studies-Comparative Tool. Metaregression and subgroup analyses were performed to explore the impact of varying clinical settings.
RESULTS
A total of 13 studies met the inclusion criteria. The pooled sensitivity and specificity for eight head-to-head studies between the Ovarian-Adnexal Reporting and Data System and the Assessment of Different NEoplasias in the adneXa model were 0.96 (95% CI 0.92-0.98) and 0.82 (95% CI 0.71-0.90) vs. 0.94 (95% CI 0.91-0.95) and 0.83 (95% CI 0.77-0.88), respectively, and for seven head-to-head studies between the Ovarian-Adnexal Reporting and Data System and the International Ovarian Tumor Analysis Simple Rules, the pooled sensitivity and specificity were 0.95 (95% CI 0.93-0.97) and 0.75 (95% CI 0.62-0.85) vs. 0.91 (95% CI 0.82-0.96) and 0.86 (95% CI 0.76-0.93), respectively. No significant differences were found between the Ovarian-Adnexal Reporting and Data System and the Assessment of Different NEoplasias in the adneXa model as well as the International Ovarian Tumor Analysis Simple Rules in terms of sensitivity ( = 0.57 and = 0.21) and specificity ( = 0.87 and = 0.12). Substantial heterogeneity was observed among the studies for all three guidelines.
CONCLUSION
All three guidelines demonstrated high diagnostic performance, and no significant differences in terms of sensitivity or specificity were observed between the three guidelines.
PubMed: 38756655
DOI: 10.3389/fonc.2024.1354837