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To our knowledge, this case report is the first comprehensive clinical and genetic examination of a patient with BHDS in Russia. The p.R477* mutation has been described by other authors in patients with fibrofolliculomas and lung cysts, but not in those with RCC, while RCC was the first manifestation of BHDS in our case. The case report may help geneticists, oncologists, and other specialists to better understand the clinical and genetic heterogeneity of BHDS in various populations.The proposed role of interleukin (IL)-17 in vitiligo pathogenesis, as well as the possible action of anti-IL-17A drugs on vitiligo, are not fully understood. The appearance of vitiligo as a paradoxical effect of treatment with anti-tumor necrosis factor-α drugs is an event well known in the literature, but is rarely described with anti-IL-17A drugs. In this case report, we describe a 42-year-old woman who developed new-onset vitiligo with repigmentation during successful secukinumab therapy for psoriatic arthritis. After 1 year of secukinumab therapy, vitiligo affecting >85% of the skin was evident on clinical and dermatoscopic examination, together with small, repigmented lesions. In depigmented lesions, reflectance confocal microscopy (RCM) showed disappearance of the bright dermal papillary rings normally seen at the dermo-epidermal junction. In repigmented lesions, activated dendritic melanocytes were observed on RCM. The patient continued to receive secukinumab, and continued to experience a slow and progressive repigmentation. Our case shows that anti-IL-17A biological agents for chronic inflammatory diseases may be associated with the development of new-onset vitiligo that improves over time with ongoing therapy. Therefore, physicians should be aware of the possibility of this rare paradoxical skin reaction in patients receiving secukinumab, and that it may not be necessary to discontinue secukinumab to achieve repigmentation.For more than 3 decades, extracorporeal shock wave therapy (ESWT) has been clinically implemented in urologic and orthopaedic indications. Here, we present the case of a patient with envenomation from a highly toxic jellyfish-like siphonophore (Physalia physalis) with a toxic contact dermatitis resulting in chronic eruptive skin lesions. The skin lesions on the dorsal right hand lasted more than 16 weeks and were refractive to local cortisone treatment. They finally healed after 8 applications of low-energy planar/defocused ESWT over 4 weeks. In detail, the clinical course, ESWT specifications and the possible mechanisms of ESWT in the light of the current literature are discussed. Our case indicates that ESWT is an underestimated, promising non-invasive, non-immunosuppressive treatment for chronic eruptive skin lesions after jellyfish or related toxin envenomations.We present a rare case of KRAS keratinocytic epidermal nevus syndrome with lymphatic malformation, responsive to treatment with sirolimus, an mTOR inhibitor. A brief review of the current literature regarding sirolimus use in vascular malformations, lymphatic malformations, regional overgrowth syndromes, and RASopathies is discussed.Vitiligo is an autoimmune skin disease presenting with areas of depigmentation. Recent reports suggest that Janus kinase (JAK) inhibitors may be an effective therapy. In this case report, we show our experience with an adolescent patient with a long history of generalized and refractory vitiligo, for which treatment with topical tofacitinib, a JAK inhibitor, associated with phototherapy for 9 months, resulted in near complete repigmentation.Erythema ab igne (EAI) is a localized, hyperpigmented and reticulated dermatosis at sites of chronic heat exposure. Within longstanding skin lesions of EAI, hyperkeratotic lesions may emerge and can potentially transform into pre-malignant or malignant skin lesions. A 55-year-old woman presented for the evaluation of multiple hyperkeratotic lesions along with a reticular patterned hyperpigmentation on her right knee, an area that had repeated and prolonged exposure to a heat source over a period of several months. Based on her clinical history and the physical examination of her lesions, she was diagnosed as having a hyperkeratotic form of EAI. A skin biopsy was performed to rule out malignant alteration, but the histopathological findings were supportive of keratosis lichenoides chronica.Extramammary Paget's disease (EMPD) is a rare intraepithelial neoplasm that occurs in apocrine-bearing areas of skin. Most EMPD patients initially present with chronic pruritic eczematous lesions involving genitalia, perineum and perianal area. Familial form of EMPD is extremely rare. Several genetic mutations have been proposed but specific modes of inheritance are still unknown. This article reports two cases of familial extramammary Paget's disease in female siblings.The coexistence of epidermal cysts and lipomas at the same site is extremely rare, although epidermal cysts and lipomas are both common benign skin tumors. We present a rare case of an epidermal cyst with underlying lipoma on the back. This case report may simply be a result of coincidence, but the possibility of underlying subcutaneous tumors should be considered before epidermal cyst surgery.Esophageal carcinosarcoma is a rare malignant tumor composed of both carcinomatous and sarcomatous elements. We report a case of esophageal carcinosarcoma in a 56-year-old woman with dysphagia. Esophageal ulcerative tumors were detected by endoscopy and resected by thoracoscopic esophagectomy. Carcinosarcoma was confirmed by the presence of both carcinomatous and sarcomatous tumor components. this website On immunohistochemistry, the sarcomatous area was positive for keratin staining, while the sarcomatous area was positive for vimentin staining. The tumor reportedly had a better prognosis than SCC of the esophagus, especially in terms of survival rate. The patient's disease was classified as ypT3N0M0, ypStage II. No definitive diagnosis was made preoperatively. We report this case along with a review of the literature.Acute abdominal pain is a common presenting symptom that possesses a wide differential. Congenital internal hernias are a rare condition that often presents with abdominal pain and can lead to obstruction. Early diagnosis is often difficult and therefore can present acutely and in an emergent setting. Prompt recognition of symptoms and evaluation are important to prevent poor prognosis. We are presenting a case of a congenital internal hernia in a patient presenting with nonspecific symptoms. Prompt diagnosis and subsequent surgical intervention allowed for appropriate management and resolution of symptoms.Plastic biliary stents are commonly used for biliary drainage, while plastic pancreatic stents may be used prophylactically against acute pancreatitis in patients at high risk for post-endoscopic retrograde cholangiopancreatography pancreatitis. Removal of these prostheses is generally safe and can easily be performed in the ambulatory setting. Herein, we report a case of acute pancreatitis induced by removal of plastic biliary and pancreatic stents with a forward-viewing endoscope.Formation of multiple fundic gland polyps or hyperplastic polyps in the gastric mucosa is one of the well-known adverse effects of the long-term acid suppression therapy for peptic ulcer disease. However, similar phenomenon has not been reported to occur in the duodenum. We report a case of duodenal polypoid lesion that developed after the long-term use of acid suppressants and disappeared after the cessation of the treatment. The patient was a 76-year-old man with a history of heavy cigarette smoking and excessive alcohol intake who had been treated with medication of gastric acid suppressants, including proton pump inhibitors and potassium-competitive acid blockers, for refractory gastroesophageal reflux disease. After receiving the acid suppression therapy for 3 years, a polypoid lesion of 10 mm in diameter was found at the portion of the duodenal bulb. This polypoid lesion disappeared 1.5 months after the cessation of treatment. We hypothesized that changes in serum gastrin levels caused by acid suppression therapy might have been associated with the development and regression of the duodenal polypoid lesion.Diagnosis of complete XY gonadal dysgenesis exposes the patient to the prospect of infertility and many years of medical treatment in order to avoid the development of diseases associated with this condition. However, sufficiently early diagnosis followed by the implementation of proper therapy improves the prognosis for enabling future pregnancies after IVF through the development of reproductive organs and prevention of health complications of hypoestrogenism such as cardiovascular problems and osteoporosis. This syndrome is very rare and affects 1 in 80,000 women. Due to the high risk of developing a gonadal tumour, prophylactic bilateral gonadectomy is one of the main procedures performed in a relatively brief time after diagnosis. Unfortunately, despite characteristic symptoms like primary amenorrhoea and underdeveloped breasts, the diagnosis is often made quite late. We report the case of a 45-year-old woman who had been diagnosed with Swyer syndrome at the age of 16 years. The patient underwent bilateral gonadectomy one year after the diagnosis due to the associated risk of developing malignancy and was treated since with hormone replacement therapy. At the age of 32 and 34 years, 2 successful IVF procedures were performed with oocyte donations. The pregnancies proceeded without any complications and both were resolved by caesarean section. The healthy sons' weights were 3600 g and 3700 g, respectively.Abdominal and pelvic pain with an associated pelvic mass is a very common emergency situation. There is always a management dilemma for most emergency physicians regarding these patients. A 46-year-old postmenopausal woman was admitted to our emergency department (ED) with complaints of massive abdominal distention. Abdominal and pelvis magnetic resonance imaging (MRI) was performed, which revealed a huge pelvic abdominal mass. All tumor markers were within normal limits. However, the ovarian cancer antigen (CA 125) level was elevated. As there was a strong suspicion of malignancy, the patient underwent total abdominal hysterectomy with bilateral salpingo-oophorectomy. Her final histopathology report was suggestive of uterine leiomyoma. Uterine leiomyomas are the most common benign uterine tumors in women. Surgical treatment is the gold standard, especially for older women with severe symptoms and no desire for future fertility. Although the combination of a pelvic tumor and a high-level of CA 125 arouses suspicion of gynecological malignancy, other benign conditions should always be considered in the differential diagnosis. There is limited evidence to support an association between elevated CA 125 levels and uterine fibroids so far. However, conditions such as the coexistence of adenomyosis and tumor size can affect the level of this marker in uterine fibroids.Pseudomyxoma peritonei (PMP) is a rare and uncommon condition, characterized by the presence of mucinous ascites in the abdominal cavity. The most common cause of PMP is mucinous adenocarcinoma of the appendix, followed by neoplasms of the ovary, endocervix, fallopian tube, alimentary organs, urachus, urinary bladder, lung, mucinous cyst of the spleen, and breast. Herein, we report a case of a 64-year-old postmenopausal woman (gravida 2, para 2) who presented at the department of gynecology with a short history of nausea and abdominal distention. Abdominal and vaginal ultrasonography showed a large amount of free fluid in the pelvis with hyperechoic echogenicity and right pelvic tumor with mixed echogenicity. Computed tomography demonstrated the presence of a heterogeneous, hypodense mass, without contrast enhancement, located on the right side of the pelvis, near the right ovary. Laparotomy was performed. Revision of the abdominal cavity revealed a large amount of yellow gelatinous mucinous ascites - approximately 1.