Diagnostic Techniques in Autoimmune Blistering Diseases.

Autoimmune blistering diseases (AIBD) comprise a heterogeneous group of uncommon disorders of the skin and mucous membranes, characterised by antibodies targeting structural proteins within epithelial tissue and the underlying basement membrane. There can be significant overlap in clinical presentation of these diseases and accurate diagnosis relies on the detection and characterisation of relevant autoantibodies. Immunofluorescence provides the gold-standard diagnostic tool for these diseases, identifying both tissue-bound autoantibodies in biopsy material using direct immunofluorescence and circulating antibodies in serum through indirect immunofluorescence. Following advances in the identification and subsequent characterisation of numerous antigenic targets in these diseases, the development of antigen-specific tests, in particular, enzyme-linked immunosorbent assays on serum specimens, has provided a third key tool to not only identify, but also quantify AIBD autoantibodies. This quantification has proven particularly useful in monitoring disease activity and informing clinical management decisions. Accurate diagnosis of these diseases is important since optimal treatment strategies differ between them and, prognostically, some diagnoses are associated with an increased risk of malignancy. This review outlines the molecular pathology underlying the major AIBD and describes how the three principal techniques can be used in combination, to provide best practice for diagnosis and treatment monitoring.

A 75-Year-Old Man With Irregular Solid Components Within an Emphysematous Bulla.

CASE PRESENTATION: A 75-year-old man presented to our hospital with cough and sputum for more than a year. Eight months previously, the patient was admitted to a local hospital, and his symptoms were relieved after symptomatic treatment (expectorants and antitussives). Three months ago, he was admitted to our hospital, and his symptoms improved with antiinflammatory therapy. He had a 30-pack-years history of smoking (20 cigarettes/day) and a history of drinking (200 g liquor per day). The patient had no history of genetic disorders or cancer. He did not present with fever, dyspnea, hemoptysis or chest distress, and there was no history of weight loss since onset.

Giant and potentially malignant bullae in a dog.

Background: Primary lung neoplasms are, frequently represented by solid, solitary, or multiple formations. However, malignant cavitary lesions may be presented as lung adenocarcinomas. Those malignant lesions differ from benignant bullae by the thickness heterogeneity of its surrounding shape. Case Description: The present clinical case reports a 14-year-old female dog, of mixed breed, with an increase in the coughs frequency, fatigue, and exercise intolerance. A chest X-ray was taken, a large emphysematous cystic area was found, with thickened and irregular walls located in the left caudal pulmonary lobe, which measured 8 × 7.5 × 3 cm, and rejected the bronchial branch corresponding to the left caudal pulmonary lobe, in addition to thickening of the bronchial walls, compatible with bronchopathy. The tomographic examination of the cavity showed an air content structure, oval to round in shape, with irregular thick hyperattenuating walls measuring approximately 0.4 cm in thickness, occupying more than 30% of the left hemithorax, and pulmonary lobectomy was chosen. Histopathology confirmed the diagnosis of bronchoalveolar adenocarcinoma, with the presence of sparse areas of necrosis and dystrophic calcification. Conclusion: The present case successfully diagnosed a malignant bulae, after a surgical remove. The tomographic finds although not confirmatory, suggest a malignant component by the shape and thickness of its wall. The tomographic exam is of great importance, because only through it, it is possible to evaluate if there is lymph node or pleural involvement or the presence of small metastasis foci. There is indication for surgery and histopathological examination of the piece for a definitive diagnosis.

Case Report: Concurrence of Dermatomyositis and Autoimmune Blistering Diseases: Two Case Reports and a Literature Review.

Dermatomyositis (DM) is an idiopathic inflammatory myopathy primarily involving skin and muscles. Clinically amyopathic dermatomyositis (CADM), a subset of DM, presents with characteristic cutaneous manifestations without clinical evidence of myositis. Although rare, vesiculobullous eruptions could develop in DM patients. Such "bullous DM" is commonly considered a sign of internal malignancy. However, some cases with similar presentations were diagnosed as autoimmune blistering disease eventually. Herein, we reported two cases of CADM with autoimmune blisters formed. Case 1 presented with vesicles and was diagnosed with CADM initially. However, this patient developed blisters again years later and was diagnosed with "pemphigus foliaceous" (PF) accordingly. Case 2, with a history of nasopharyngeal carcinoma and CADM, developed bullous pemphigoid several days after using a heat patch on her abdomen. The association between disease occurrence and local skin damage might provide more evidence to support the "epitope spreading" hypothesis. Moreover, we reviewed related literature and discussed the differences between the two disease entities in clinical presentations, pathogenesis, therapy, and the risk of complications.

Respiratory Distress and Chest Pain in an Airplane Passenger With Radiolucent Left Hemithorax.

CASE PRESENTATION: A 43-year-old man experienced sudden onset of chest pain and shortness of breath onboard a domestic flight. After consultation with the airline's operations center, a decision was made to land the plane in its destination airport. After landing, an ambulance was ready, and the patient was transferred to the ED in our facility. Patient evaluation was immediately started, and oxygen supply and venous access were secured.

Techniques, Outcomes, and Complications of Preloaded, Trifolded Descemet Membrane Endothelial Keratoplasty Using the DMEK EndoGlide.

PURPOSE: To describe 2 insertion techniques, outcomes, and complications of preloaded, trifolded Descemet membrane endothelial keratoplasty (DMEK) cases using the DMEK EndoGlide inserter. METHODS: This retrospective, consecutive case series analyzed the first 35 cases using the DMEK EndoGlide performed between October 2018 and October 2019 at a single center. Preloaded, trifolded DMEK tissues were delivered through a fluid-injected or pull-through technique. To inject the tissue, a burst of fluid was delivered into the lumen of the injector with a second instrument. Postoperatively, best-spectacle corrected visual acuity (BSCVA), pachymetry, graft survival, and complications were assessed. RESULTS: Thirty-five eyes of 29 patients underwent DMEK alone (n = 11), with cataract surgery (n = 21), or with additional surgeries (n = 3). Of these, 19 (54.3%) grafts were injected. Video analysis revealed a median time of 3.5 minutes from graft insertion to opening for gas insertion. Median preoperative BSCVA of 0.398 logMAR improved to 0.097 logMAR (P = 0.02) at 9 months. Median pachymetry decreased from 619 µm to 551 µm (P = 0.03) at 9 months. Median donor endothelial cell count of 2890.5 cells/mm2 reduced to 2123 cells/mm2 (26.6% endothelial cell loss; P = 0.008) 6 months postoperatively. One (2.9%) graft failed due to inverted marking at the eye bank and subsequent reverse implantation. CONCLUSIONS: Pre-loaded, tri-folded tissues can be implanted with acceptable levels of endothelial cell loss. We describe a no-touch method of injecting pre-loaded, tri-folded tissue and highlight incorrect marking as a potential complication. This may not be identifiable intraoperatively due to lack of scroll formation.

Non infective bullous lesions: a diagnostic challenge in a minimally equipped centre- based solely on microscopic findings.

Vesicobullous lesions of skin may occur in different forms of dermatosis, which include various inflammatory, infective, autoimmune, drug induced as well as genetic conditions. Autoimmune bullous lesions, may be fatal if not treated with appropriate agents. Bearing in mind, the morbidity of these diseases, it is important to establish a firm diagnosis. A diagnostic skin biopsy with immunofluorescence is frequently used to confirm a clinical diagnosis, especially where it is not apparent clinically. There are many centres in India where immunofluorescence is not available and the diagnosis in these lesions is based on clinical and histopathological features only. Here in this study, we studied 53 skin punch biopsies with clinical suspicion of vesicobullous lesions followed by histopathological examination was carried out over a period of 2 years in a Medical College in Gujarat. Lesions were categorised based on the location of the blister. 1) Suprabasal 2) subcorneal 3) and subepidermal. Further subtyping was done based on additional histopathological features and clinical correlation. All the patients responded appropriately to the treatment and the results correlated well with the immunofluorescence done in a few cases. This study lays emphasis upon the histopathology and clinical features keeping in consideration of the lack of ancillary techniques in many centres especially in the developing world.

[57-years old patient with bulla and striatic erythema located at the limbs]. / 57-jährige Patientin mit Blasen und striatiformen Erythemen an den Extremitäten.

HISTORY: A female patient aged 57 presented at the emergency room with painful skin lesions after repeated gardening days. Bullae and striate erythema were ovserved in light exposed areas. The patient was transferred to the Dermatology Department at the University hospital Jena, Germany. FINDINGS AND DIAGNOSIS: Blood test showed raised levels of inflammation parameters. The general body examination showed no abnormalities. Dermatits bullosa pratensis (grass dermatitis), was diagnosed, based on the patient case history, the examination results and the typical skin lesions. THERAPY AND COURSE: Treatment with intravenous corticosteroids, followed by topical steroids and sterile punctures of blisters was prescribed. CONCLUSIONS: Dermatits bullosa pratensis, is a skin condition appearing during the summer season in Germany. It belongs to the photo phytotoxic dermatitis types and is induced by phytochemicals in combination with UV-light. It is therefore important to take appropriate skin protective safety measures when touching plant containing phytochemicals in sunlight. In this way dermatitis bullosa pratensis can be easily avoided.

Hemorrhagic Bullous Lichen Sclerosus: A Case Report.

BACKGROUND Lichen sclerosus (LS) is a chronic autoimmune dermatosis characterized by white, sclerotic, atrophic plaques. Classic LS commonly occurs in the anogenital region, while extragenital lichen sclerosis typically occurs on the trunk and proximal extremities. Bullous lichen sclerosus is a rare variant that can occur in both genital and extragenital LS. Flaccid bullae can form, which may become hemorrhagic and produce a characteristic appearance clinically. CASE REPORT In this report, we describe the case of a 63-year-old female patient who presented for evaluation of a rapidly growing, erythematous, scaly growth on her back/shoulder that was biopsied and found to be hemorrhagic bullous LS. We will discuss the clinical and histologic features of this case as well as treatment of bullous LS, which in this case was a topical high-potency corticosteroid. CONCLUSIONS Bullous LS has been poorly studied due to the rarity of the condition, with limited investigation of the clinical and histopathologic characteristics of bullous LS and the available treatment options. Although rare, extragenital LS with hemorrhagic bullous features is an important variant of LS that should be considered to ensure appropriate diagnosis and treatment.

Dominant pretibial dystrophic epidermolysis bullosa in an Italian family.

We describe a case of pretibial dystrophic epidermolysis bullosa in a 5-year-old girl, her mother, and maternal great aunt. All subjects had trauma-induced blisters and erosions, with scarring, on the knees and lower legs, and nail dystrophy of variable severity. Genetic analysis in all three patients showed a 6849del18 mutation in the COL7A1 gene, causing the production of shortened collagen VII polypeptides and resulting in a mild phenotype, with localized acral blisters and nail involvement.

Juvenile bullous systemic lupus erythematosus - case report.

Bullous systemic lupus erythematosus (BSLE) is a rare autoimmune subepidermal blistering disease, with few cases described in childhood. We report a case of bullous systemic lupus erythematosus refractory to corticosteroid therapy in a 16-year-old female who was successfully treated with low dose dapsone. We highlight the rarity and the relevance of skin biopsy for a correct diagnosis of BSLE.