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Rare skin

Amarateedha H Prak, Kristina M Dela Rosa
With skin lesions that have failed previous treatments, consideration for an atypical mycobacteria, specifically Mycobacterium marinum, infection should be suspected. Importance of the history cannot be stressed as this is a clue that the patient may have been inoculated and infected in the field environment. A marine with chronic right knee plaque for 3 yr that first appeared after a field exercise at The Basic School but worsened despite treatment with clindamycin, TMP-SMX, and incision and drainage in 2012...
March 14, 2018: Military Medicine
Fatimah Alnafisah, Shaimaa K Dawa, Sherif Alalfy
Cutaneous endometriosis is one of the rare gynecological conditions. Endometriosis is defined as the presence of endometrial glands and stroma outside the endometrial cavity. It commonly occurs in pelvic sites, such as the ovaries, cul-de-sac, bowel, or pelvic peritoneum. Endometriosis at the incisional scar is difficult to diagnose because of nonspecific symptoms. Usually, patients complain of pain at the site of the incision during menstruation. The main causes in most of the reported cases are obstetrical and gynecological surgeries...
January 13, 2018: Curēus
Abdullateef Abdulkareem, Ryan S D'Souza, Joshua Mundorff, Pragya Shrestha, Oluwaseun Shogbesan, Anthony Donato
Acquired angioedema due to C1 inhibitor deficiency (C1INH-AAE) is a rare and potentially fatal syndrome of bradykinin-mediated angioedema characterized by episodes of angioedema without urticaria. It typically manifests with nonpitting edema of the skin and edema in the gastrointestinal (GI) tract mucosa or upper airway. Edema of the upper airway and tongue may lead to life-threatening asphyxiation. C1INH-AAE is typically under-diagnosed because of its rarity and its propensity to mimic more common abdominal conditions and allergic reactions...
2018: Case Reports in Hematology
Dian He, Yuan Li, Yunli Yu, Gang Cai, Fu Ouyang, Yuchan Lin, Hongjuan Lu, Lan Chu
Neurofibromatosis type 1 (NF1) is a rare autosomal dominant disorder that primarily affects the skin and the nervous system. This condition is called segmental NF1 (also called neurofibromatosis type V) when clinical features are limited to one area of the body. Segmental NF1 is generally thought to result from somatic mosaicism due to a postzygotic mutation in the NF1 gene, thus a test for NF1 gene abnormalities in peripheral blood is usually negative. Here we report a 31-year-old male presenting with epileptic seizures, who had a history of neurofibromas confirmed by biopsy, but lacked a family history of neurofibromatosis...
March 1, 2018: Clinical Neurology and Neurosurgery
Mireguli Tuersunjiang, Xing Long, Yuchuan Fu, Jin Ke, He Huijun, Jian Li
Bifid nose, an indicator of Tessier No.0, is a rare congenital malformation. Because of its rarity, few cases were reported and the optimal surgical procedure and the best time for surgery have not been widely acknowledged. In this brief report, a 9-year-old girl with mild bifid nose and unilateral mini-microform cleft lip, and its surgical management, is presented. We focused our attention on modifying the shape of the nose through open rhinoplasty without excising the surplus skin on the nasal dorsum and achieved good results...
March 14, 2018: Journal of Craniofacial Surgery
Martina Baneckova, Abbas Agaimy, Simon Andreasen, Tomas Vanecek, Petr Steiner, David Slouka, Tomas Svoboda, Marketa Miesbauerova, Michael Michal, Alena Skálová
Secretory carcinoma, originally described as mammary analog secretory carcinoma (MASC), is a low-grade salivary gland tumor characterized by a t(12;15)(p13;q25) translocation, resulting in an ETV6-NTRK3 gene fusion. Most MASCs are localized to the parotid gland and intraoral minor salivary glands. Moreover, ETV6-rearranged carcinomas with secretory features have been reported recently in the thyroid (with and without a history of radiation exposure), skin, and in very rare instances in the sinonasal tract. Here, we describe 2 cases of primary MASC in the sinonasal tract and provide a detailed clinical and histopathologic characterization of their morphology, immunohistochemical profile, and genetic background and highlight features allowing for its separation from its recently described molecular mimicker, ETV6-rearranged low-grade sinonasal adenocarcinoma...
March 14, 2018: American Journal of Surgical Pathology
Thérèse M Sassalos, Taylor S Fields, Robert Levine, Hua Gao
PURPOSE: To report a rare case of peripheral retinal neovascularization in a patient diagnosed with cutis marmorata telangiectatica congenita (CMTC). METHODS: Observational case report. RESULTS: A 16-year-old girl was referred to clinic for retinal evaluation. The patient had a clinical diagnosis of CMTC later confirmed by skin biopsy. Examination revealed temporal peripheral retinal sheathing, as well as lattice degeneration in both eyes...
March 14, 2018: Retinal Cases & Brief Reports
A A Yarovoy, O V Golubeva, S S Kleyankina, T V Yanchenko
Juvenile xanthogranuloma (JX) is a benign growth of fibrohistiocytoma range that mainly affects children. The most frequent localization of the tumor is skin integument. Non-cutaneous forms of JX are found in 5-10% of cases; they are manifested as deep lesions of soft tissues, involvement of various organs (oropharynx, lungs, liver, spleen, pericardium, gastrointestinal tract, central nervous system, bone marrow) including the organ of vision. JX can develop in any part of the eye and its appendages. Taking into consideration how rare this pathology is, its diagnosis and treatment are complicated...
2018: Vestnik Oftalmologii
Jee Hee Son, Sook Young Park, Yong Se Cho, Bo Young Chung, Hye One Kim, Chun Wook Park
Corticosteroids are potent anti-inflammatory and anti-allergic agents used in the treatment of various inflammatory diseases, including allergic disease. They are frequently considered the therapy-of-choice for many skin diseases. However, allergic reactions caused by corticosteroids have been reported. Among these, delayed reactions to topical steroids are more common, whereas immediate reactions to systemic steroids are rare. Herein, we report the case of a 32-year-old woman with triamcinolone-induced immediate hypersensitivity reaction, in which the patient had a positive prick test result with triamcinolone...
March 19, 2018: Journal of Korean Medical Science
Alessandro Antônio Costa Pereira, Christian Barros Ferreira, João Adolfo Costa Hanemann, Livia Maris Ribeiro Paranaiba, Patricia Peres Iucif Pereira, Carla Isabelly Rodrigues-Fernandes, Celeste Sánchez-Romero, Oslei Paes de Almeida, Felipe Paiva Fonseca
Lymphomatoid granulomatosis (LYG) is a rare B-cell lymphoproliferative disorder driven by Esptein-Barr virus (EBV) that most commonly affects the lungs, although extra pulmonary sites like the central nervous system, skin, liver and kidney can also be involved. It is microscopically characterized by an angiocentric and angiodestructive growth pattern, predominantly composed by small T-cells, although a smaller population of atypical large B-cells is considered the true neoplastic component. Oral cavity involvement of LYG has rarely been described and the diagnosis of this neoplasm is very difficult...
March 14, 2018: Head and Neck Pathology
L Abraham, H Kreipe, P Raab, K Hussein
Intravascular B‑cell lymphomas (IVL) are rare neoplasms that can manifest at any age (mean age ~62-63 years). About half of the cases are associated with Epstein-Barr virus. The most common sites of manifestation are the brain, skin, and bone marrow. The diagnosis is difficult due to unspecific clinical presentation and laboratory changes. FACS (fluorescence-activated cell sorting) and clonality analysis from peripheral blood and radiological findings are often not diagnostic. The most sensitive and most specific diagnostic method is the histopathological and immunohistochemical evaluation of a tissue biopsy...
March 14, 2018: Der Pathologe
Agazi Gebreselassie, Majidah Bukhari, Ahmad Awan, Mouen Khashab
Portal vein thrombosis with cavernous transformation is a rare cause of biliary obstruction. Portal biliopathy is a term that refers to abnormalities in the intrahepatic and extrahepatic biliary tract, gall bladder, and cystic duct secondary to portal hypertension. Patients may be asymptomatic, but they can also present with abdominal pain, jaundice, and fever. We present the case of a 61-year-old Caucasian female who presented with generalized weakness, dark urine, and yellow skin for three days' duration...
January 9, 2018: Curēus
Kamil Pohlodek, Peter Jáni, Iveta Mečiarová
A granular cell tumor (GCT), is a rare soft tissue tumor which may occur throughout the body, usually in the head and neck, skin or subcutaneous tissues of the trunk and upper extremities, and female genital region. A total of 5-8% of all cases of GCTs occur in the breast. GCT of the breast may mimic breast cancer both clinically and radiologically. GCTs are usually benign and solitary; however, approximately 2% occur as malignant tumors. Benign GCTs are treated with wide local excision and are associated with a good prognosis...
April 2018: Molecular and Clinical Oncology
Cecilie Okholm, Martin Frendø, Katalin Kiss, Christian von Buchwald
BACKGROUND Facial pain and numbness are common symptoms with a variety of causes; rarely, it is an initial sign of perineural infiltration of malignant tumors. CASE REPORT Here, we report 3 challenging cases, all presenting with pain and numbness of the cheek as the primary symptoms. Upon referral, there were neither signs of severe illness nor information about previous malignant diseases, while the diagnostic work-ups revealed additional involvement of the facial nerve in 2 of the cases. Surgical removal of the perineural tissue around the infraorbital nerve revealed perineural invasion by a squamous carcinoma...
March 15, 2018: American Journal of Case Reports
L Tagliaferri, C Casà, G Macchia, A Pesce, G Garganese, B Gui, G Perotti, S Gentileschi, F Inzani, R Autorino, S Cammelli, A G Morganti, V Valentini, M A Gambacorta
OBJECTIVE/PURPOSE: Extramammary Paget disease (EMPD) is a rare neoplasm of the skin generally affecting the anogenital area. Because of the low-frequency of the disease, no specific guidelines about the treatment strategy are available. Surgery is the recommended therapy for resectable and localized disease, but several other local treatments have been reported such as radiotherapy (RT). Most articles report small retrospective studies, referring to patients treated decades ago with large heterogeneity in terms of RT dose and technique...
March 17, 2018: International Journal of Gynecological Cancer
Karolien Hollanders, Ingele Casteels, Sylvie Vandelanotte, Rudolf Reyniers, Katarina Segers, Thomas Nevens, Ilse Mombaerts
PURPOSE: To report a case of ablepharon-macrostomia syndrome and surgical treatment options. METHODS: Case report and literature review. RESULTS: A prematurely born male baby presented with severe ablepharon, hypertelorism, macrostomia, low-set dysplastic ears, broad nasal bridge, coarse and redundant body skin, absent scalp and body hair, lax abdominal wall, absent nipples, camptodactyly, and ambiguous genitalia. Despite intensive ocular lubrication, severe exposure keratopathy developed within the first days after birth...
March 13, 2018: Cornea
Kexu Chen, Hanlin Liang, Jiewen Peng, Yanfang Zheng
Advanced extramammary Paget's disease does not have a standardized treatment guideline as its incidence is low and has been rarely reported in literature. Here we describe a case of metastatic extramammary Paget's disease successfully treated with topical 5-fluorouracil (5-FU) and systemic pemetrexed. The therapy was safe without any appreciable adverse effects like diarrhea, rash, neutropenia or fatigue; maintaining remission for more than 6 months. Thus, we propose 5-FU and pemetrexed as the first-line therapy for advanced extramammary Paget's disease, especially for aged patients with unresectable skin lesions...
March 12, 2018: Indian Journal of Dermatology, Venereology and Leprology
Arti Nanda, Maitham A A Husain, Waleed Al-Herz, Adla Almekaimi, Humoud Al-Sabah, Mohammad Al-Otaibi
BACKGROUND/OBJECTIVES: Allogeneic hematopoietic stem cell transplantation (HSCT) is a treatment option for many life-threatening disorders in children. Chronic graft-versus-host disease (cGVHD) is a significant complication of HSCT, and its treatment is challenging. Skin is the most common organ affected in cGVHD, with protean manifestations posing a challenge in diagnosis and management. The objective was to have a better understanding of the spectrum of chronic cutaneous GVHD (cc-GVHD) in children...
March 14, 2018: Pediatric Dermatology
Amruth R Palla, Donald Doll
Merkel cell carcinoma (MCC), a rare skin cancer, is associated with high mortality, especially in a metastatic setting. Though conventional chemotherapy with platinum and etoposide has had high response rates, many of the patients have had early relapse without any effective therapy thereafter. Recently, immune check point inhibitors have shown very good durable responses, leading to the approval of a programmed death-ligand 1 inhibitor Avelumab for these patients. We briefly review the epidemiology and immune basis of the pathogenesis of MCC, which therefore explains the excellent response to check point inhibitors, and throw light on future directions of immunotherapy for this cancer...
2018: ImmunoTargets and Therapy
Zhi Li, Elizabeth Gothard, Mark C Coles, Carrie A Ambler
In skin wounds, innate-immune cells clear up tissue debris and microbial contamination, and also secrete cytokines and other growth factors that impact repair process such as re-epithelialization and wound closure. After injury, there is a rapid influx and efflux of immune cells at wound sites, yet the function of each innate cell population in skin repair is still under investigation. Flow cytometry is a valuable research tool for detecting and quantifying immune cells; however, in mouse back skin, the difficulty in extracting immune cells from small area of skin due to tissue complexity has made cytometric analysis an underutilized tool...
2018: Frontiers in Immunology
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