BACKGROUND: Paraneoplastic pemphigus (PNP) in the oral cavity is a rare variant of blistering pemphigus disease closely associated with mostly malignant tumors. The diagnosis may even precede an underlying malignancy enabling early detection. Here, we describe a previously unreported case of PNP associated with HPV-related tonsillar squamous cell carcinoma. METHODS AND RESULTS: A 50-year-old woman was referred to a dentist because of painful oral lesions resembling aphthae major and minor. Later, blisters appeared and an incisional biopsy was performed. Histological examination revealed an unusual coexistence of subepithelial and intraepithelial blisters raising suspicion of paraneoplastic pemphigus. The patient underwent 18F-FDG PET/MRI, showing a metabolically active process in the left palatal tonsil. Diagnostic biopsy revealed HPV type 16 associated tonsillar squamous cell carcinoma. A left tonsillectomy with elective left-sided neck dissection was performed. The postoperative period was complicated by bilateral fluidothorax. Two weeks after radical tumor removal, the mucosal and skin lesions of PNP disappeared. The patient currently shows no evidence of recurrence either of malignancy or PNP eight months after the surgery. CONCLUSION: PNP is a rare autoimmune blistering disease characterized by polymorphous cutaneous and mucosal lesions associated with internal neoplasms including HPV associated squamous cell carcinoma of a tonsil. In order to identify an occult malignancy, a whole-body PET/CT or PET/MRI scan is recommended. Rarely, accurate patient management may depend on the dentist being familiar with this entity and on interdisciplinary cooperation involving dermatologist, radiologist, pathologist, and pneumologist. A strict patient follow-up is indicated.
- Klíčová slova
- 18F-FDG PET/MRI, oral mucosa lesions; paraneoplastic autoimmune multiorgan syndrome, paraneoplastic pemphigus, pulmonary complications, tonsillar carcinoma HPV associated,
- MeSH
- autoimunitní nemoci * komplikace MeSH
- infekce papilomavirem * komplikace diagnóza MeSH
- krční mandle patologie MeSH
- lidé středního věku MeSH
- lidé MeSH
- paraneoplastické syndromy * etiologie diagnóza patologie MeSH
- pemfigus * diagnóza etiologie MeSH
- PET/CT škodlivé účinky MeSH
- puchýř komplikace MeSH
- spinocelulární karcinom * komplikace diagnóza MeSH
- Check Tag
- lidé středního věku MeSH
- lidé MeSH
- ženské pohlaví MeSH
- Publikační typ
- kazuistiky MeSH
BACKGROUND: Bullous pemphigoid (BP) is the most common autoimmune subepidermal blistering disease of the skin and mucous membranes. This disease typically affects the elderly and presents with itch and localized or, most frequently, generalized bullous lesions. A subset of patients only develops excoriations, prurigo-like lesions, and eczematous and/or urticarial erythematous lesions. The disease, which is significantly associated with neurological disorders, has high morbidity and severely impacts the quality of life. OBJECTIVES AND METHODOLOGY: The Autoimmune blistering diseases Task Force of the European Academy of Dermatology and Venereology sought to update the guidelines for the management of BP based on new clinical information, and new evidence on diagnostic tools and interventions. The recommendations are either evidence-based or rely on expert opinion. The degree of consent among all task force members was included. RESULTS: Treatment depends on the severity of BP and patients' comorbidities. High-potency topical corticosteroids are recommended as the mainstay of treatment whenever possible. Oral prednisone at a dose of 0.5 mg/kg/day is a recommended alternative. In case of contraindications or resistance to corticosteroids, immunosuppressive therapies, such as methotrexate, azathioprine, mycophenolate mofetil or mycophenolate acid, may be recommended. The use of doxycycline and dapsone is controversial. They may be recommended, in particular, in patients with contraindications to oral corticosteroids. B-cell-depleting therapy and intravenous immunoglobulins may be considered in treatment-resistant cases. Omalizumab and dupilumab have recently shown promising results. The final version of the guideline was consented to by several patient organizations. CONCLUSIONS: The guidelines for the management of BP were updated. They summarize evidence- and expert-based recommendations useful in clinical practice.
- MeSH
- bulózní pemfigoid * diagnóza farmakoterapie MeSH
- dermatologie * MeSH
- hormony kůry nadledvin terapeutické užití MeSH
- kvalita života MeSH
- lidé MeSH
- puchýř farmakoterapie MeSH
- senioři MeSH
- venerologie * MeSH
- Check Tag
- lidé MeSH
- senioři MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- hormony kůry nadledvin MeSH
Spontaneous pneumothorax, pneumomediastinum and subcutaneous emphysema are serious complications of COVID-19 infection caused by SARS-CoV-2, occurring in approximately 1% of hospitalized patients. The risk increases with the accumulation of risk factors, namely moderate or severe illness, high-flow oxygen therapy and noninvasive ventilation. The pathophysiology may be contributed to by patient self-inflicted lung injury. Hypoxia-induced respiratory effort in patients with pneumonia puts an enormous load on certain parts of their lungs, leading to subsequent progression of lung tissue damage. These complications start with destruction of the alveolar membrane, accompanied by emergence of a pulmonary bulla. Rupture of the bulla results in air leaking to the pleural space (pneumothorax). In the case of pneumomediastinum, the air spreads within the peribronchial interstitium along the airways to the mediastinum and subcutaneous tissues (Macklin effect). While pneumomediastinum and subcutaneous emphysema resolve spontaneously in most cases, pneumothorax treatment depends on its magnitude. While small pneumothorax may be managed conservatively, large pneumothorax usually requires active treatment with an acute chest drain; the latter is also associated with worse prognosis and a higher chance of death. We report air-leak complications in nine COVID-19 patients, of whom seven had spontaneous pneumothorax and four of them died. Three patients developed spontaneous pneumomediastinum together with subcutaneous emphysema, with two of them surviving. One patient with combination of pneumothorax, pneumomediastinum and subcutaneous emphysema died. These complications may accompany moderate or severe COVID-19-associated pneumonia, mostly the late phase of the disease. They should be considered when patients complain of sudden chest or back pain or worsening respiratory insufficiency.
- MeSH
- COVID-19 * komplikace MeSH
- kyslík MeSH
- lidé MeSH
- mediastinální emfyzém * diagnóza etiologie terapie MeSH
- pneumotorax * etiologie terapie MeSH
- puchýř komplikace MeSH
- SARS-CoV-2 MeSH
- subkutánní emfyzém * komplikace MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- kyslík MeSH
Inherited epidermolysis bullosa (EB) comprises rare disorders that manifest with fragility and blistering of the skin and mucous membranes, with variable clinical severity. Management of EB is challenging due to disease rarity and complexity, the wide range of extracutaneous manifestations and a profound impact on daily life for the patient and family members. Although reference centres providing multidisciplinary care for EB exist in each European country, it is common for healthcare professionals that are not specialized in this rare disorder to treat EB patients. Here, experts of the European Reference Network for Rare and Undiagnosed Skin Diseases (ERN-Skin, https://ern-skin.eu) propose practical recommendations for the diagnosis and management of the commonest clinical issues, skin blisters and wounds, oral manifestations, pain and itch.
BACKGROUND: Epidermolysis bullosa acquisita (EBA) is a rare, potentially devastating autoimmune disease of the skin. IgG autoantibodies directed against type VII collagen (Col7), the major component of anchoring fibrils, induce skin fragility leading to cutaneous and mucocutaneous blister formation, which is mostly of a scarring phenotype. Thus, powerful and reproducible diagnostic assays are critical to establish the diagnosis of EBA early to avoid irreversible sequelae. OBJECTIVES: The present international, retrospective multicentre study included a large cohort of patients with EBA and evaluated the diagnostic power of four different diagnostic assays for the detection of anti-Col7 IgG autoantibodies. METHODS: Overall, 95 EBA sera and 200 control sera consisting of 100 bullous pemphigoid sera, 50 pemphigus vulgaris sera and 50 sera of healthy controls were tested for anti-Col7 IgG autoantibodies using indirect immunofluorescence (IIF), two commercial enzyme-linked immunosorbent assay (ELISA) systems and Western blot (WB) analysis. EBA sera were taken from patients with positive direct immunofluorescence and IgG reactivity in at least one of the immunoserological assays (IIF, ELISA, WB). RESULTS: A Col7-NC1/NC2 ELISA (MBL, Nagoya, Japan) showed the highest sensitivity (97·9%), followed by a Col7-NC1 ELISA (Euroimmun, Lübeck, Germany) (89·5%), WB with Col7-NC1 (85·3%), and IIF on saline-split human skin (74·7%). The specificities of both ELISA systems were comparable (NC1 98·7%, NC1/NC2 99·3%). Furthermore, WB was more sensitive than IIF, which was more specific. CONCLUSIONS: The two commercially available ELISA systems allow for a highly sensitive and specific diagnosis of EBA. The sensitivity of the Col7-NC1/NC2 ELISA is significantly higher compared with the ELISA based on the Col7-NC1 domain only.
- MeSH
- autoprotilátky metabolismus MeSH
- ELISA MeSH
- epidermolysis bullosa acquisita diagnóza MeSH
- fluorescenční mikroskopie MeSH
- imunoglobulin G imunologie metabolismus MeSH
- kolagen typ VII imunologie MeSH
- lidé MeSH
- puchýř imunologie MeSH
- retrospektivní studie MeSH
- studie případů a kontrol MeSH
- western blotting MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- hodnotící studie MeSH
- multicentrická studie MeSH
- Názvy látek
- autoprotilátky MeSH
- imunoglobulin G MeSH
- kolagen typ VII MeSH
Analysis of epidermal genes, proteins and lipids is important in the research and diagnosis of skin diseases. Although punch biopsy is the first-choice technique for the skin sampling, it is unnecessarily invasive for obtaining a sample just for the epidermal analysis. Here we compare two less invasive methods, suction blistering (SB) and tape stripping (TS), for the analysis of selected epidermal genes (quantitative real-time reverse transcription PCR, qRT-PCR), proteins (western blotting, WB), and lipids in ten healthy volunteers. TS provided significantly less material than SB and no viable epidermal layers could be obtained according to the reflectance confocal microscopy. Consistently, only the SC protein filaggrin and housekeeping GAPDH together with FLG and RPL13A mRNA were detected by TS. In the SB samples, WB and qRT-PCR could easily detect all the selected proteins (claudin-1, occludin, filaggrin, laminin and GAPDH) and genes (CLDN1, OCLN, FLG, LAMA3 and RPL13A), respectively. A single SB sample further provided enough of material for immunohistochemistry and lipid analyses, which was not feasible with the TS samples. Immunohistochemistry of the SB samples showed intact epidermal structure and a characteristic expression of claudin-1. Infrared spectroscopy showed well-ordered lipids with both orthorhombic and hexagonal packing and high-performance thin layer chromatography confirmed all lipid classes (including ceramide subclasses) in correct proportions. Taken together, SB represents a reliable sampling technique that can be utilized for multipurpose epidermal analyses in various studies.
- Klíčová slova
- Confocal microscopy, Epidermis, Stratum corneum, Suction blistering, Tape stripping,
- MeSH
- chromatografie na tenké vrstvě MeSH
- claudin-1 analýza MeSH
- dospělí MeSH
- epidermis chemie MeSH
- filagriny MeSH
- imunohistochemie MeSH
- kvantitativní polymerázová řetězová reakce MeSH
- lidé středního věku MeSH
- lidé MeSH
- lipidy analýza MeSH
- messenger RNA analýza MeSH
- odsávání MeSH
- proteiny intermediálních filament analýza MeSH
- proteiny analýza MeSH
- puchýř MeSH
- senioři MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mužské pohlaví MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- srovnávací studie MeSH
- Názvy látek
- claudin-1 MeSH
- CLDN1 protein, human MeSH Prohlížeč
- filagriny MeSH
- FLG protein, human MeSH Prohlížeč
- lipidy MeSH
- messenger RNA MeSH
- proteiny intermediálních filament MeSH
- proteiny MeSH
IMPORTANCE: Surgeons starting to perform Descemet membrane endothelial keratoplasty (DMEK) should be informed about the learning curve and experience of others. OBJECTIVE: To document the clinical outcome of standardized "no-touch" DMEK and its complications during the learning curves of experienced surgeons. DESIGN, SETTING, AND PARTICIPANTS: Retrospective multicenter study. A total of 431 eyes from 401 patients with Fuchs endothelial dystrophy (68.2%) and bullous keratopathy (31.8%) underwent DMEK performed by 18 surgeons in 11 countries. EXPOSURES: Descemet membrane endothelial keratoplasty. MAIN OUTCOMES AND MEASURES: Best-corrected visual acuity (BCVA), endothelial cell density, and intraoperative and postoperative complications. RESULTS: Of 275 eyes available for BCVA pooled analysis, BCVA improved in 258 eyes (93.8%), remained unchanged in 12 (4.4%), and deteriorated in 5 (1.8%). Two hundred seventeen eyes (78.9%) reached a BCVA of at least 20/40 (≥0.5), 117 (42.5%) at least 20/25 (≥0.8), and 61 (22.2%) at least 20/20 (≥1.0). Eyes with at least 6 months of follow-up (n = 176) reached similar BCVA outcomes. Mean (SD) decrease in endothelial cell density at 6 months was 47% (20%) (n = 133 [P = .02]). Intraoperative complications were rare, including difficulties in inserting, unfolding, or positioning of the graft (1.2%) and intraoperative hemorrhage (0.5%). The main postoperative complication was graft detachment (34.6%); 20.4% underwent a single rebubbling procedure, occasionally requiring a second (2.6%) and a third rebubbling (0.7%), and 17.6% underwent a second keratoplasty. CONCLUSIONS AND RELEVANCE: Our multicenter study showed that the standardized no-touch DMEK technique was feasible in most hands. The main challenges for surgeons starting to perform the procedure may be (1) to decide whether graft preparation is outsourced or performed during surgery, (2) to limit the number of graft detachments and secondary procedures, and (3) to obtain organ cultured donor corneal tissue.
- MeSH
- dárci tkání MeSH
- dospělí MeSH
- Fuchsova endoteliální dystrofie chirurgie MeSH
- křivka učení * MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- nemoci rohovky chirurgie MeSH
- odběr biologického vzorku MeSH
- oftalmologie * MeSH
- peroperační komplikace MeSH
- počet buněk MeSH
- pooperační komplikace MeSH
- puchýř chirurgie MeSH
- retrospektivní studie MeSH
- rohovkový endotel patologie MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- uchovávání orgánů MeSH
- výsledek terapie MeSH
- zadní lamelární keratoplastika metody MeSH
- zraková ostrost fyziologie MeSH
- Check Tag
- dospělí MeSH
- lidé středního věku MeSH
- lidé MeSH
- mladý dospělý MeSH
- mužské pohlaví MeSH
- senioři nad 80 let MeSH
- senioři MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- multicentrická studie MeSH
- práce podpořená grantem MeSH
Genotyping of sixteen exfoliative toxin-producing (ET-positive) strains of Staphylococcus aureus isolated in maternity units of two distant hospitals was accomplished by PFGE, ribotyping, PCR ribotyping, and prophage carriage. Three strains secreted combined ETA + ETB, and the remaining produced ETA and enterotoxin C, or TSST-1. The comparison of various genomic profiles resulted in the identification of nine genotypes. The presence of one prevailing genotype was demonstrated in each hospital. Evidence was given that the outbreak-related ET-positive strains causing the skin disease pemphigus neonatorum disseminated in both the hospitals did not originate from a single source or a common ancestor.
- MeSH
- dospělí MeSH
- epidemický výskyt choroby * MeSH
- exfoliatiny biosyntéza MeSH
- genotyp MeSH
- infekce spojené se zdravotní péčí epidemiologie mikrobiologie MeSH
- lidé MeSH
- novorozenec MeSH
- polymerázová řetězová reakce MeSH
- porodnice * MeSH
- profágy MeSH
- puchýř epidemiologie mikrobiologie MeSH
- pulzní gelová elektroforéza MeSH
- ribotypizace MeSH
- stafylokoková toxická epidermální nekrolýza epidemiologie mikrobiologie MeSH
- stafylokokové infekce kůže epidemiologie mikrobiologie MeSH
- Staphylococcus aureus klasifikace genetika metabolismus virologie MeSH
- techniky typizace bakterií * MeSH
- těhotenství MeSH
- Check Tag
- dospělí MeSH
- lidé MeSH
- novorozenec MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
- Názvy látek
- exfoliatiny MeSH
The concentrations of immunoglobulin E (IgE) were measured serially in 30 patients with severe burn injury. A characteristic finding was a rapid and dramatic increase of IgE in the serum of all patients, some of whom showed up to 20-fold increases. IgE was also found in considerable amounts in blister fluid and pleural effusions. In some patients raised IgE values were the only indicator of an anamnestic immediate allergic state. No correlation was found between the IgE levels and clinical characteristics of individual patients but significant changes seemed to be present only in patients with a burn covering more than 20 per cent of the body surface area.
- MeSH
- časové faktory MeSH
- dítě MeSH
- dospělí MeSH
- ELISA MeSH
- exsudáty a transsudáty imunologie MeSH
- imunoglobulin E analýza MeSH
- lidé MeSH
- pleurální výpotek imunologie MeSH
- popálení imunologie MeSH
- puchýř MeSH
- Check Tag
- dítě MeSH
- dospělí MeSH
- lidé MeSH
- mužské pohlaví MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- Názvy látek
- imunoglobulin E MeSH
- MeSH
- kůže patofyziologie MeSH
- lidé MeSH
- perspiratio insensibilis * MeSH
- popálení komplikace patofyziologie MeSH
- prasata MeSH
- puchýř etiologie patofyziologie MeSH
- techniky in vitro MeSH
- zvířata MeSH
- Check Tag
- lidé MeSH
- zvířata MeSH
- Publikační typ
- časopisecké články MeSH
