Hypertrophic Lesions Research Articles

Darier disease: Current insights and challenges in pathogenesis and management.

Darier disease is a rare autosomal dominant genodermatosis caused by mutations in the ATP2A2 gene encoding for sarcoendoplasmic reticulum Ca2+ ATPase isoform 2. The skin disease is characterized by a chronic relapsing course with recurrent reddish-brown keratotic papules and plaques located mainly in seborrhoeic areas. Due to chronic inflammation and epidermal barrier defects of the skin, patients often develop severe bacterial and viral superinfections. Therapeutic options are limited, mainly symptomatic and in most cases unsatisfactory in the long term. Patients are advised to avoid aggravating factors such as high temperature, high humidity, UV radiation and mechanical irritation. To prevent superinfection, antiseptics and periodic use of topical corticosteroids are fundamental in treatment. In case of bacterial and viral superinfection, systemic anti-infective therapy is often necessary. Currently, the most effective treatment option for extensive and persistent skin lesions is systemic retinoids, which are thought to mainly target the epidermal compartment (e.g. by reducing hyperkeratosis). One hallmark of Darier disease patients is chronic skin inflammation. We and others have previously reported Th17 cells in the dermal infiltrate of inflamed Darier disease skin. Counteracting inflammation by blocking the IL-23/IL-17 axis improved skin manifestations in a small cohort of previously therapy-resistant patients over 1 year. Furthermore, several other topical treatment options for mild disease as well as various ablative therapies and surgical excision have been proposed to be effective in some patients with hypertrophic skin lesions. This article aims to outline the pathogenesis, clinical features, diagnosis/differential diagnosis and available treatment modalities of Darier disease.

Ayurvedic Management of Pemphigus Vegetans

Pemphigus vegetans is a group of autoimmune disorder characterized by mucocutaneous bullae or pustules that erode to form hypertrophic papillated plaques that predominantly involve the scalp, and the face. It is the rarest variant of pemphigus vulgaris representing about 1-2% of all pemphigus. It may be correlated with Kardama visarpa in Ayurveda. The contemporary management of pemphigus is by systemic steroids. This case report of a 38 year old, male patient diagnosed with Pemphigus vegetans who presented with pustular lesions with foul smell, reddish spots with hypertrophic papillated lesions on scalp, itching and burning sensation over various body parts especially on upper parts since 20 years. He was treated with both Samana as well as Sodhana therapies for about 1 month. This condition was assessed using Pemphigus diseases area index. After treatment there was a significant reduction in the score. Moreover no new lesions were formed suggesting non progression of the diseases.

Amyloid Deposition Mainly Localized in the Basal Area of the Left Ventricle in a Patient with Amyloid Transthyretin Cardiac Amyloidosis.

A 74-year-old Japanese man was admitted to our hospital for catheter ablation of paroxysmal atrial fibrillation. Transthoracic echocardiography revealed basal interventricular septal hypertrophy without apical sparing. Cardiac magnetic resonance imaging revealed late gadolinium enhancement in the hypertrophic lesions. The Kumamoto criteria was one point, and the patient had no carpal tunnel syndrome. However, technetium-99m pyrophosphate scintigraphy revealed an accumulation in the basal region of the left ventricle. A skin biopsy revealed transthyretin (TTR) amyloid deposition. A TTR gene examination revealed no variants. This case suggests that amyloid deposition in TTR may occur in the basal area of the interventricular septum.

A case of IgG4-related hypophysitis maintained remission of diabetes insipidus for over 3 months after completion of steroid treatment.

IgG4-related disease is a multiorgan disorder in which nodules and hypertrophic lesions are observed simultaneously, or separately, in areas including the pancreas, liver, lungs, salivary glands, thyroid glands, and pituitary glands. IgG4-related hypophysis is one of several IgG4-related diseases and is characterized by pituitary gland and pituitary stalk thickening, various degrees of hypopituitarism, and increased serum IgG4 levels. Steroid therapy is effective for patients with IgG4-related hypophysis, but the reported effectiveness of steroid therapy for restoring pituitary function differs between studies. Following an episode of autoimmune pancreatitis 10 years prior, enlargement of the pituitary gland and stalk along with panhypopituitarism and polyuria developed in a 73-year-old male. A high serum IgG4 level and biopsy of the submandibular gland showing infiltration of IgG4-positive plasma cells led to a clinical diagnosis of IgG4-related hypophysitis. Prednisolone treatment reduced the swelling of the pituitary gland and stalk and improved anterior pituitary function. Although arginine vasopressin secretion remained insufficient, polyuria was relieved and kept in remission even after prednisolone treatment was completed. This is the first reported case in which prednisolone was able to maintain both normal anterior pituitary function and remission of polyuria caused by IgG4-related hypophysitis. IgG4-related hypophysitis has previously been associated with a relapse of symptoms during treatment. However, the patient reported in this case study remained in remission for over 3 months after completion of steroid treatment and should be monitored closely for changes in pituitary function. Steroid therapy is the first-line therapy for pituitary dysfunction and pituitary stalk swelling in IgG4-related hypophysitis. In this case, although posterior pituitary function remained insufficient, polyuria was relieved and kept in remission for over 3 months even after prednisolone treatment was completed. IgG4-related hypophysitis has been associated with the relapse of symptoms during steroid tapering, and changes in pituitary function and symptoms should be monitored closely. When we encounter cases of adrenal insufficiency and polyuria during observation of autoimmune pancreatitis or other IgG4-related disease, we should consider the possibility of IgG4-related hypophysitis in mind.

Preoperative lymphocyte count, neutrophil to lymphocyte and platelet to lymphocyte ratio predict the recurrence with progression and cancerization in vocal fold lesions-retrospective study.

This study explored the contribution of peripheral blood markers in diagnosis and prognosis estimation of different stages of laryngeal dysplasia and early glottic cancer. Retrospective analysis of clinical, histopathological and laboratory data of 220 patients including hemoglobin, neutrophil, lymphocyte, monocyte and platelet counts, neutrophil to lymphocyte ratio (NLR), platelet to lymphocyte ratio (PLR). The mean hemoglobin level and platelets count showed differences between histopathological stages of lesions (p=0.041 and 0.046, respectively). In patients with recurrent lesions mean level of lymphocyte count, NLR and PLR were significant in assessing progression and cancerization (p=0.005, 0.028 and 0.023, respectively). The univariate analysis recognized level of PLR ≥ 141.74 as significant risk factor of the recurrence of vocal fold hypertrophic lesions (OR = 1.963). The levels of blood cells and their ratios seem to be effective in predicting the recurrence of lesion and even more their potential role in indicating malignant progression.

Management of the Flabby Ridge Using a Special Impression Technique

The flabby ridge is commonly observed in the anterior region of the maxillary arch in fully edentulous patients. It is characterised by non-adherent hypertrophic mucosal lesions overlying the underlying bone, often with excessive bone resorption. Management of the flabby ridge is essential prior to the placement of a definitive prosthesis, whether by surgical resection or the use of specific prosthetic methods. This management aims to ensure stability and optimal retention of the prosthesis. In order to determine the type of intervention to be chosen, a thorough interview and clinical examination are carried out. Several parameters are considered, such as the volume of the flabby ridge, the degree of underlying bone resorption, the type of prosthetic rehabilitation planned and the presence of any contraindications to surgery. These factors will guide the decision on the most appropriate treatment. In this article, we focus on a non-surgical approach to the management of the flabby ridge, which involves the selection of a specific type of impression. This impression technique aims to record the ridge in its static state, without compression or displacement, while ensuring precise muco-dynamic recording of the adjacent tissues.

Novel endoscopic management of gastroenterological anastomosis leakage by injecting gel-forming solutions: an experimental animal study.

Anastomotic leakage (AL) after gastrointestinal surgery remains a challenging complication that requires surgical or non-surgical treatment. Although various therapeutic endoscopic techniques are available, no definitive interventions exist. We developed a therapeutic endoscopic submucosal injection method using novel gel-forming mixed solutions to close AL and evaluated the elasticity of the developed hydrogel. The safety and efficacy of the injection method were explored in porcine AL models. We developed a novel gel-forming solution, and the formed gel lasted approximately oneweek within the gastrointestinal wall. An indentation test evaluated the elasticity of the novel hydrogel. After the confirmation of AL on porcine anterior gastric walls, sodium alginate was endoscopically injected into the submucosal layer around the leakage site circularly, followed by a calcium lactate/chitosan-based solution. After that, the outcomes data were collected, and histopathological effectiveness was evaluated. The increased sodium alginate elasticity with the addition of calcium lactate/chitosan-based solution facilitated long-lasting gel formation. Four pigs with AL underwent this intervention consecutively. Each endoscopic injection was completed in less than 5min. No significant complications were observed for 3weeks after the intervention. All AL sites were macroscopically healed. Histopathologic findings at 3weeks showed that the wall defect was filled with collagen fibers that had grown around the site of the muscle layer tear. No tissue necrosis was observed. This preclinical study demonstrated that the therapeutic injection method for gastroenterological AL using gel-forming solutions could be an alternative endoscopic treatment, especially in patients with severe conditions or comorbidities. The optimal target of this treatment is small size and early AL without poor blood flow or intense hypertrophic scar lesions.

CPC05 A case of extensive hypertrophic lupus erythematosus responsive to topical steroids

Abstract Hypertrophic lupus erythematosus (HLE) is a rare variant of lupus erythematosus, occurring in 2% of cases of chronic cutaneous lupus erythematosus (CCLE). It is an exaggerated proliferative epithelial response manifesting as verrucous-appearing hypertrophic indurated lesions occurring on sun-exposed sites. We present a case of the development of extensive HLE in a patient with subacute cutaneous lupus erythematosus (SCLE) with underlying pulmonary malignancy. A 74-year-old woman with Sjögren syndrome presented to dermatology with a 2-month history of a rash affecting her face and décolletage. Laboratory studies illustrated elevated antinuclear and anti-Ro antibodies. Biopsy from her chest confirmed SCLE. Malignancy screening revealed T1aN0 pulmonary lepidic adenocarcinoma, which was successfully managed with a lower lobectomy. Hydroxychloroquine was initially trialled but required discontinuation following intolerable side-effects. Mepacrine was then initiated, which allowed clearance of the rash, alongside yellow discoloration of the skin. Six months later, she developed a raised pruritic rash on her arms, legs and buttocks, resistant to current management alongside a trial of mycophenolate mofetil. Examination revealed violaceous hypertrophic plaques affecting 40% of her body-­surface area. The differential included hypertrophic lichen planus, nodular prurigo and HLE. Repeat lesional biopsies highlighted a lichenoid inflammatory infiltrate with overlying scale, favouring HLE. Owing to patient choice, topical mometasone furoate 0.1% was used to manage cutaneous disease, with a reduction in lesion size. HLE is a distinct subset of CCLE, regarded as a separate entity to SCLE. Twenty per cent of patients with SCLE also exhibit other types of cutaneous lupus erythematosus (CLE) lesions. No cases in the literature describe progression from SCLE to CCLE, or HLE, in particular. Hallmarks of HLE include verrucous lesions, chronicity and treatment resistance. Early recognition and follow-up are essential as malignancy may arise in long-standing lesions. Lung adenocarcinomas and hypertrophic lupus are both associated with p53 mutations and decreased granzyme B expression. Mutated p53 results in constitutive cell proliferation and DNA damage can accumulate in cells. Granzyme B is a protease in cytotoxic T cells involved in immune-mediated cell lysis. Both processes result in the potential to produce exaggerated hyperproliferative lesions, such as those observed in HLE and the lepidic adenocarcinomas. HLE is a rare clinical entity that can be easily misdiagnosed clinically and histopathologically. Increased awareness of this condition is essential to highlight the variety of clinical presentations of uncommon variants of CLE, to ensure they are considered while approaching clinical diagnosis.

Incidental Findings of Duodenal-Type Follicular Lymphoma by Endoscopic Screening: A Case Report

Introduction: Follicular Lymphoma (FL) is a B-cell neoplasm arising from the germinal center. Gastrointestinal FL is a rare case, accounting for less than 4% of all primary lymphoma of the gastrointestinal tract. Duodenal-type Follicular Lymphoma (DTFL) was included in an entity of primary intestinal FL. However, in the 2017 World Health Organization (WHO) Classification, this entity was included in a specific variant called DTFL. In this article, we report a case of DTFL in a 56-year-old man which was incidentally found during upper gastrointestinal endoscopy Case Presentation: : We report a case of incidentally found DTFL in a 56-year-old man during an endoscopy. The endoscopic finding showed a small, hypertrophic, or nodular lesion on part two duodenum. Microscopic evaluation of duodenal mucosa consists of proliferative atypical lymphoid cells arranged in follicular architecture. The lesion was confined to the lamina propria. The atypical lymphoid cells were dominated by monotonous centrocyte-like cells, small-sized, with scant cytoplasm, and cleaved nuclei. There were some scattered larger centroblast-like cells with multiple nucleoli. No mantle zone and tingible body macrophage were found. The immunohistochemical evaluation showed positivity for CD 20, CD 10, Bcl-6, and Bcl-2 in the follicular structure. CD 21 was dominantly stained at the periphery of the follicular structure, and Ki-67 was low. Conclusions: According to clinical data, endoscopic findings, and histopathological and immunohistochemical findings, the patient was diagnosed with DTFL.

Surgical Strategy for Hemispherotomy.

Hemispherotomy is a radical treatment for drug-resistant epilepsy that targets developmental, acquired, and progressive diseases with widespread epileptogenic regions in one cerebral hemisphere. Currently, two main approaches are utilized after repeated improvements: lateral and vertical approaches. With the lateral approach, the surgical field is wide, and the approach to the lateral ventricle is relatively easy. On the other hand, the vertical approach has the advantage of reducing intraoperative bleeding and operating time as the resection line of the radial fiber is short, and understanding the three-dimensional anatomy is relatively easy. The lateral approach is generally used for atrophic lesions, whereas the vertical approach is for hypertrophic lesions. Hemispherotomy is expected to not only suppress epileptic seizures but also improve psychomotor development by protecting the unaffected cerebral hemisphere. However, this method is one of the most invasive surgeries in epilepsy surgery, and it is important to fully consider its indications. Furthermore, understanding the neural fiber pathway is important for actual surgery.

Changing a Life in Medical Missions: Chronic Actinic Dermatitis

A 47-year-old male was seen in a rural Nicaraguan community for difficulty shaving his beard. The patient stated his face changed roughly 10 years ago and since has never looked the same. He presented at the clinic with an eczematous rash confined to the sun exposed surfaces on his skin. His face and posterior neck were covered in a confluent lichenified erythematous eruption sparing only the forehead and eyelids. The upper chest, forearms, and dorsal hands were hyperpigmented with various hypertrophic and hyperkeratotic lesions. The diagnosis of chronic actinic dermatitis was made due to the overall clinical picture along with limitations in further diagnostic capabilities. After initial therapy, the patient ecstatically returned to the clinic with greatly improved skin.

Патологія пародонту при системному червоному вовчаку

Introduction. Periodontal disease (PD), including gingivitis and periodontitis, is a very common disease worldwide. The prevalence of gingivitis ranges from 38% to 85%. There is increasing evidence that oral dysbiosis as well as periodontitis-related pathogens may be involved in the pathophysiology of autoimmune inflammatory diseases, including systemic lupus erythematosus (SLE). Methods. Based on the analysis of scientific sources, establish the main pathological aspects of periodontal damage in SLE. Results. The clinical picture of the condition of peri-dental tissues in SLE was represented by a polymorphic combination characterized by hypertrophic and catarrhal lesions of the periodontium in acute and subacute stages of periodontitis, which is mostly untreatable without correcting the therapy of the underlying disease. The X-ray picture was characterized by thinning of the top of the interdental septa (especially the compact bone plate) and diffuse osteoporosis of the bone tissue. Gross destructive bone resorption is uncharacteristic for SLE. At the same time, radiological changes in the bone tissue of the jaws, as a rule, were uniform throughout the alveolar edge, which indicated the simultaneous involvement in the process in the entire area and the systemic (caused by the main rheumatic disease) genesis of periodontal changes. The results of studies of periodontal tissues showed that patients with SLE do not have a big difference in the values of hygiene indices and gum condition, but have low periodontal indices due to the smaller depth of periodontal pockets compared to the group of somatically healthy patients. Researchers explain this fact mainly by the effects of long-term use of hormonal drugs and, possibly, the lower pathogenicity of the microflora of the oral cavity. Conclusions. SLE affects the periodontium. In most cases, periodontitis with SLE has a hypertrophic and catarrhal character with more pronounced bleeding and granulations from periodontal pockets.

Laryngeal contact granuloma after radiotherapy in patients with nasopharyngeal carcinoma: a case series.

Laryngeal contact granuloma (LCG) is a benign hypertrophic lesion and phonatory injury after abnormal vocal behavior is regarded as its major etiology. Patients receiving radiation for non-laryngeal head and neck tumors are troubled by persistent voice impairment. The occurrence of LCG after radiotherapy for nasopharyngeal carcinoma (NPC) in our practice has implored us to re-exam their underlying etiology. We hypothesize that a proportion of LCG results from voice change caused by non-laryngeal head and neck cancer radiotherapy and firstly describe a distinct LCG population originated after radiotherapy for NPC with respect to the clinical profile, presentation, prognosis and response to treatment of patients. We retrospectively reviewed the laryngoscopic examination and tumor study findings to elucidate the common clinical features of patients who presented with LCG after radiotherapy for NPC. All patients were regularly monitored with telescopic examination until lesions disappeared. Data on age, sex, clinical presentation, telescopic findings, management, latency time of lesion formation, remission time and clinical outcome were reviewed. The medical review identified 27 cases of LCG secondary to radiotherapy for NPC. All lesions had been diagnosed during routine endoscopy following radiation. The interval between radiation onset and endoscopic diagnosis was 3.77 months (range, 0.67-11 months). 20 cases were resolved through simple observation, 4 cases were resolved with the administration of proton pump inhibitors (PPIs), and 3 cases with a poor response to PPI therapy required subsequent surgical resection. The mean remission time in the observation and PPI groups was 4.42 months (range, 0.73-18.9 months) and 5.78 months (range, 2.17-14.63 months), respectively. All patients recovered completely and none experienced recurrence during a mean follow-up of 32.44 months (range, 5.6-71.67 months). Iatrogenic granulomas of vocal process are presenting after radiation for non-laryngeal head and neck cancers. In contrast with spontaneous granulomas, these granulomas can be cured at high remission rates and low recurrence trend without specific intervention. Thus, simple observation may be sufficient for radiation-induced LCG.

ABCL-178 Primary Gastric Lymphoma Mimicking Gastric Carcinoma: The Clinicopathological Features and Treatment

The stomach is the most common site of gastrointestinal lymphoma and accounts for fewer than 5% of primary gastric tumors. Gastric lymphomas can be primary or secondary to systemic lymphomas. Primary gastric lymphomas (PGL) are defined as the involvement of the stomach mainly without systemic disease or those with gastrointestinal symptoms on presentation. This study reports a single-center experience with PGL simulating carcinoma with analysis of clinicopathological presentations and lines of treatment. A retrospective study was performed between September 2006 and May 2021. The study was carried out in the Oncology Center, Mansoura University, Mansoura, Egypt. The study included 66 PGL patients who were F/M (50%/50%) with a mean age of 58.26±12.8 years. Twenty-nine patients underwent gastrectomy, and 37 patients were treated with rituximab, cyclophosphamide, doxorubicin, vincristine, and prednisolone (R-CHOP). The patients' clinical, endoscopic, and pathologic data were analyzed. Demonstration of the clinicopathological features of PGL patients and assessment of the role of surgery in PGL in the era of rituximab. The patients' presentations were dyspepsia (65.2%), vomiting (21.2%), gastrointestinal bleeding (10.6%), and dysphagia (3%). The endoscopic appearances were ulcerating lesions (60.6%), exophytic masses (24.2%), hypertrophic lesions (10.6%), and hyperemic lesions (4.5%). The median tumor size was 4.9 cm (range 1.5-17 cm). The tumor locations were the lower part of the stomach (n=40 cases), the middle part (n=11 cases), the upper part (n=14 cases), and diffuse (n=1 case). Patients were classified by Lugano staging into stage I (18.2%), stage II (53%), stage IIE (16.7%), and stage IV (12.1%). Twenty-nine patients underwent surgical exploration in the form of distal gastrectomy (79.3%), total gastrectomy (13.8%), and gastro-jejunostomy (6.9%). Indications of surgery were PGL mimicking carcinoma in 25 patients and 4 patients with gastric outlet obstruction. Pathologically, PGL was diffuse large B-cell lymphoma (DLBCL) (87.9%), mucosa-associated lymphoid tissue lymphoma (7.6%), follicular lymphoma (3%), and T-cell-rich non-Hodgkin lymphoma (1.5%). The median overall survival was 27.5 months (2-146 months). PGL is simulating gastric carcinoma in clinical and radiological presentations, and surgery may be a therapeutic option, especially in DLBCL.

Topical interferon Alpha-2b in refractory limbal vernal keratoconjunctivitis: a case report

Purpose: To report our experience of managing a steroid resistant limbal vernal keratoconjunctivitis (VKC) by topical interferon alpha-2b (IFN- 2b) eye drops. Methods: Case report Results: A 20-year-old man was referred to our cornea clinic with the chief complaints of itching and photophobia in eyes and foreign body sensation, redness, and ptosis in a both eyes. He had a 10-year history of gradually enlarging limbal gelatinous masses on both eyes, which according to the other signs and impression cytology (IC) was diagnosed as a VKC. As the disease in his left eye was more severe and persistent with maximum topical steroid usage, we started the topical IFN- 2b eye drops, that a rapid therapeutic response was observed. After three months of using the topical IFN- 2b all ocular surface inflammation and other symptoms rapidly disappeared and we continued this drug till another 3 months, at 12-months follow-up, there was no recurrence of the limbal papillary hypertrophic lesions and other signs and symptoms of VKC. Conclusion: In a refractory VKC, topical IFN- 2b can be used and enhance remission in such complex cases and can resolve patient’s complains rapidly.

Serum expression of Vascular Endothelial-Cadherin, CD44, Human High mobility group B1, Kallikrein 6 proteins in different stages of laryngeal intraepithelial lesions and early glottis cancer.

BackgroundThe study was designed to evaluate the potential validity and utility of selected molecular markers in serum samples from patients with specific stages of laryngeal intraepithelial lesions that could serve as diagnostic tools in differentiation of benign and dysplastic lesions from invasive pathologies.MethodsProspective study included 80 consecutive patients with vocal fold lesions treated at the single otorhinolaryngology centre. All participants had surgical resection of the lesion. Blood samples were collected from each patient before the surgery. Final diagnosis was confirmed on histopathological examination and included 39 (48.75%) non-dysplastic lesions, eight (10%) low-grade dysplasia, six (7.5%) high-grade dysplasia and 27 (33.75%) invasive cancers. The ELISA procedures were performed according to the manufacturer’s instruction. Individual serum concentration of selected proteins was reported in ng/ml: Vascular Endothelial-Cadherin Complex (VE-cad), CD44, Human High mobility group protein B1(HMGB1), Kallikrein 6.ResultsThe highest mean levels of HMGB1, KLK6 and VE-cad were detected in sera of patients with low-grade dysplasia (81.14, 24.33, 14.17 respectively). Soluble CD44 was the most elevated in patients with non-dysplastic lesions (2.49). The HMGB1, KLK6 and VE-cad serum levels were increasing from non-dysplastic to low-grade dysplasia and followed by the decrease for high-grade dysplasia and invasive cancer, however the differences were not significant (p-values 0.897, 0.354, 0.1 respectively). Patients’ serum had the highest CD44 concentration in non-dysplastic and low-grade dysplasia with the following decrease through high-grade dysplasia and invasive cancer. GERD symptomatic patients had higher levels of KLK6 and CD44 than other patients (p-value 0.06 and 0.084 respectively). There were no significant differences of biomarkers levels related to patients’ gender (p-value from 0.243 to 1) or smoking status (p-value from 0.22 to 0.706).ConclusionsVE-cad, HMGB1, CD44 and KLK6 did not prove to be reliable biomarkers implicating malignant potential within vocal fold hypertrophic intraepithelial lesions.

Enhanced Activation of mTOR Signaling Pathway Was Found in the Hypertrophic and Nodular Lesions of Port Wine Stains.

BackgroundPort wine stain (PWS) is a congenital skin lesion involving capillary malformations. Most PWS lesions will gradually become hypertrophic and appear nodular in contour. Current research shows that rapamycin, an mTOR inhibitor, is probably a promising adjunctive therapy for PWS, which suggests that the mTOR signaling pathway may play an important role in its pathological process.MethodsFrom January 2013 to January 2019, 13 samples were obtained during the surgical excision. Each sample was divided into 3 parts according to the type of lesion, namely, the flat, hypertrophic and nodular lesions. Pathologic structures of each type were observed under the microscope after HE staining. The expression of mTORC1, p70S6, p-p70S6, eIF4EBP1 and p-eIF4EBP1 was examined by immunohistochemical staining and western blotting. The location of the expression of mTORC1, p-p70S6 and p-elF4EBP1 was further detected by immunofluorescence staining.ResultsLarge amounts of dilated and malformed vessels were observed in all types of PWS lesions. Abundant hyperplastic hair follicles/glands were shown in the hypertrophic or nodular lesions. Phosphorylation level of p70S6 and elF4EBP1 in PWS was significantly higher than those in normal skin and increased accordingly in the progression of PWS. Activated molecules in mTOR signaling pathway were mostly located in the endothelium of malformed vessels. They were also located in the hyperplastic hair follicles/glands of hypertrophic and nodular lesions.ConclusionThe mTOR signaling pathway was increasingly activated during the progression of PWS. Enhanced activation of mTOR signaling pathway may contribute to the hypertrophy and nodularity of PWS. The results provide preliminary evidence for treating PWS and related syndromes by inhibiting mTOR signaling pathway.

Vernal keratoconjunctivitis with a limbal mass lesion developing independently of severe papillae formation at the tarsal conjunctiva: a case report

BackgroundA hypertrophic limbal mass lesion is an uncommon finding of vernal keratoconjunctivitis; it normally occurs in eyes with severe papillae formation in the tarsal conjunctiva. We present a case with a limbal mass lesion in a patient with relatively mild allergic findings in the tarsal conjunctiva.Case presentationA 12-year-old Japanese boy displaying allergic conjunctivitis presented with a mass lesion at the inferior limbus in the left eye. Relatively mild papillae formation was found on the tarsal conjunctiva in both eyes. We diagnosed that the mass lesion resulted from limbal vernal keratoconjunctivitis and resected it for therapeutic purposes. Histopathological examination showed that eosinophils, lymphocytes, and fibroblasts were present in the subepithelial lesion and the substantia propria of the mass lesion. Immunohistochemical staining detected diffuse and rich infiltration of CD3-positive T lymphocytes and a relatively small number of CD20-positive B lymphocytes and CD138-positive plasma cells that tended to aggregate. The histopathologic features suggested that the limbal mass lesion had similar structures to the papillae at the tarsal conjunctiva of vernal keratoconjunctivitis.ConclusionThe limbal mass lesion as a finding of vernal keratoconjunctivitis can occur even if the papillae formation at the patient’s tarsal conjunctiva is mild.

Herpes vegetans, an atypical herpes lesion in HIV patient: A case report.

Herpes vegetans is a rare form of Herpes simplex virus (HSV) infection in immunocompromised patients that clinically presents as a verrucous and hypertrophic lesion. In this case, we present a 36-year-old man with exophytic verrucous masses in the genital area that was initially suspected as a malignancy. Difficulty to properly diagnose the patient resulted in a few failed attempts at treating the lesion. After excluding other differential diagnoses, the atypical lesion proved to be caused by vegetative herpes infection due to a good response to HSV therapy. Reevaluation of biopsy also showed signs of HSV etiology. Atypical presentation of herpes simplex in immunocompromised patients still proves to be a challenge to diagnose and treat. Proper clinical identification and workup are needed to diagnose and to choose proper regiments.

Ossifying fibrous epulis as an IgG4-related disease of the oral cavity: a case report and literature review

BackgroundFibrous sclerosing tumours and hypertrophic lesions in IgG4-related disease (IgG4-RD) are formed in various organs throughout the body, but disease in the oral region is not included among individual organ manifestations. We report a case of ossifying fibrous epulis that developed from the gingiva, as an instance of IgG4-RD.Case presentationA 60-year-old Japanese man visited the Department of Oral and Maxillofacial Surgery, Gunma University Hospital, with a chief complaint of swelling of the left mandibular gingiva. A 65 mm × 45 mm pedunculated tumour was observed. The bilateral submandibular lymph nodes were enlarged. The intraoperative pathological diagnosis of the enlarged cervical lymph nodes was inflammation. Based on this diagnosis, surgical excision was limited to the intraoral tumour, which was subsequently pathologically diagnosed as ossifying fibrous epulis. Histopathologically, the ossifying fibrous epulis exhibited increased levels of fibroblasts and collagen fibres, as well as infiltration by numerous plasma cells. The IgG4/IgG cell ratio was > 40%. Serologic analysis revealed hyper-IgG4-emia (> 135 mg/dL). The patient met the comprehensive clinical diagnosis criteria and the American College of Rheumatology and European League Against Rheumatism classification criteria for IgG4-RD. Based on these criteria, we diagnosed the ossifying fibrous epulis in our patient as an IgG4-related disease. A pathological diagnosis of IgG4-related lymphadenopathy was established for the cervical lymph nodes. Concomitant clinical findings were consistent with type II IgG4-related lymphadenopathy.ConclusionsA routine serological test may be needed in cases with marked fibrous changes (such as epulis) in the oral cavity and plasma cells, accompanied by tumour formation, to determine the possibility of individual-organ manifestations of IgG4-related disease.