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https://www.readbyqxmd.com/read/28735350/inflammatory-joint-disorders-and-neutrophilic-dermatoses-a-comprehensive-review
#1
REVIEW
Massimo Cugno, Roberta Gualtierotti, Pier Luigi Meroni, Angelo Valerio Marzano
Rheumatoid arthritis and spondyloarthritis are inflammatory joint disorders with an autoimmune pathogenesis and systemic involvement. The skin is one of the most frequently affected extraarticular sites with a number of manifestations or distinct diseases, including common conditions, such as rheumatoid nodules and psoriasis, and rare diseases like neutrophilic dermatoses. The latter are clinically characterised by polymorphic lesions, including pustules, bullae, abscesses, papules, nodules, plaques and ulcers, and histologically by neutrophil-rich inflammatory infiltrates...
July 22, 2017: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/28733977/molecular-classification-of-tumor-cells-in-a-patient-with-intravascular-large-b-cell-lymphoma
#2
W M Bauer, M C Aichelburg, J Griss, C Skrabs, I Simonitsch-Klupp, A I Schiefer, H Kittler, U Jäger, M Zeyda, R Knobler, G Stingl
BACKGROUND: Intravascular large B-cell lymphoma (IVLBCL) is a rare type of extranodal large B-cell lymphoma. It is characterized by the proliferation of tumour cells exclusively intraluminally in small blood vessels of different organs. The clinical manifestation depends on the type of organ affected, additionally, a haemophagocytic syndrome can be observed in some patients. OBJECTIVE: Due to the rarity of this lymphoma and in spite of detailed immunohistochemical investigations the exact nosology of this cancer is only incompletely understood...
July 22, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28733143/mechanisms-of-nlrp1-mediated-autoinflammatory-disease-in-humans-and-mice
#3
REVIEW
Chien-Hsiung Yu, Jonas Moecking, Matthias Geyer, Seth L Masters
NLRP1 was the first NLR protein described to form an inflammasome, recruiting ASC to activate caspase-1, which processes interleukin-1β and interleukin-18 to their active form. A wealth of new genetic information has now redefined our understanding of this innate immune sensor. Specifically, rare loss-of-function variants in the N-terminal pyrin domain (PYD) indicate that this part of NLRP1 is autoinhibitory, and normally acts to prevent a familial autoinflammatory skin disease associated with cancer. In the absence of a ligand to trigger human NLRP1, these mutations have now confirmed the requirement of NLRP1 autolytic cleavage within the FIIND domain, which had previously been implicated in NLRP1 activation...
July 18, 2017: Journal of Molecular Biology
https://www.readbyqxmd.com/read/28730670/molluscum-contagiosum-like-presentation-of-langerhans-cell-histiocytosis-a-case-and-review
#4
Matthew S Karpman, Mohammed I AlJasser, Joseph M Lam
Langerhans cell histiocytosis (LCH) is a rare disorder characterized by clonal proliferation of Langerhans cells in the skin. A molluscum-like presentation of cutaneous LCH is rare but important to consider for examination and management. We present an atypical molluscum-like LCH case and review the literature for common features of this unusual presentation.
July 21, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28730246/spontaneous-cholecystocutaneous-fistula-as-a-primary-manifestation-of-gallbladder-adenocarcinoma-associated-with-gallbladder-lithiasis-case-report
#5
Bogdan Vasile Micu, Octavian Aurel Andercou, Carmen Maria Micu, Valentin Militaru, IonuŢ Isaia Jeican, Cătălina Ileana Bungărdean, Stelian ŞtefăniŢă Mogoantă, Dan Radu Miclăuş, Tudor Radu Pop
Spontaneous cholecystocutaneous fistula (SCF) is a rare complication of neglected calculous biliary disease and also an extremely rare complication of gallbladder neoplasm. This pathology has become even rarer because of prompt diagnosis and expedient surgical intervention for gallstones. So far, there is one published report of a SCF due to gallbladder adenocarcinoma. We present the case of a woman aged 87 years, admitted to the Vth Department of Surgery, Clinical Municipal Hospital of Cluj-Napoca (Romania) for a tumoral mass located in the epigastrium...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28730244/keratoacanthoma-centrifugum-marginatum-an-unusual-clinical-and-histopathological-diagnostic-pitfall
#6
Tiberiu Augustin Georgescu, Ana Maria Oproiu, Mihai George Rădăşan, Adrian Vasile Dumitru, Diana Costache, Oana Maria Pătraşcu, Anca Mihaela Lăzăroiu, Alina Elena Chefani, Maria Sajin, Mariana Costache
Keratoacanthoma centrifugum marginatum (KCM) is a very rare variant of keratoacanthoma characterized by progressive peripheral growth accompanied by central healing. The tumor has the peculiar ability to involute spontaneously. A careful differential diagnostic with other skin carcinomas or hyperkeratotic lesions is required in order to ensure appropriate clinical management. We report a case of KCM in a 62-year-old man presenting with a solitary, large exophytic, sessile tumor located on the ventral side of the right lower leg, which developed over the course of one year from an initial erythematous papule...
2017: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/28730137/pediatric-mycoplasma-pneumoniae-infection-presenting-with-acute-cholestatic-hepatitis-and-other-extrapulmonary-manifestations-in-the-absence-of-pneumonia
#7
Won Jae Song, Ben Kang, Hwa Pyung Lee, Joongbum Cho, Hae Jeong Lee, Yon Ho Choe
Mycoplasma pneumoniae infections mainly involve respiratory tract; however, also can manifestate other symptoms by site involved. Extrapulmonary manifestations of M. pneumoniae infection are rarely known to occur without pneumonia. Herein we report a case of a 9-year-old boy who presented with acute cholestatic hepatitis in the absence of pneumonia. Rhabdomyolysis, skin rash, and initial laboratory results suspicious of disseminated intravascular coagulopathy were also observed in this patient. M. pneumoniae infection was identified by a 4-fold increase in immunoglobulin G antibodies to M...
June 2017: Pediatric Gastroenterology, Hepatology & Nutrition
https://www.readbyqxmd.com/read/28729131/eosinophilic-hyperplastic-lymphogranuloma-clinical-diagnosis-and-treatment-experience-of-41-cases
#8
Yang Jiang, Qingquan Hua, Jie Ren, Feng Zeng, Jianfei Sheng, Hua Liao, Zhijian Zhang, Hongxia Guan
PURPOSE: The purpose of this study was to investigate the clinical features of eosinophilic hyperplastic lymphogranuloma (EHLG) in the head and neck. MATERIALS AND METHODS: Collecting the patients who diagnose with EHLG by pathological examination. The EHLG patients with the masses involved regions, such as involved inguinal region, chest wall, abdominal wall, anterior superior iliac spine or clavicle, instead of head and neck were excluding. All of the participants will sign the informed consent form...
July 12, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28728861/-vitiligo-occurring-on-dermal-melanocytosis-nevus-of-ota-in-a-dark-skinned-patient
#9
K-C Ahogo, I-P Gbery, B Vagamon, O-A Ouattara, K-A Kouassi, H-S Kourouma, Y-I Kouassi
BACKGROUND: Nevus of Ota is a rare disease most frequently found in Asians. It presents clinically as a bluish gray hyperpigmentation of one side of the face. Transformation into melanoma and glaucoma are the main risks. The appearance of vitiligo lesions with poliosis within a nevus of Ota is exceptional. PATIENTS AND METHODS: A 22-year-old female patient with a nevus of Ota consulted for depigmentation of the eyelashes. Physical examination revealed hyperpigmentation in the right orbitofrontal part of her face, achromic macules and eyelash poliosis...
July 17, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28728858/-dress-complicated-by-hemophagocytic-lymphohistiocytosis-in-an-infant-treated-for-congenital-toxoplasmosis
#10
S Rioualen, J Dufau, C Flatres, P Lavenant, L Misery, J-M Roué
BACKGROUND: Drug reaction with eosinophilia and systemic symptoms (DRESS) is a severe disease that may be complicated by hemophagocytic lymphohistiocytosis but this is rarely described in children. PATIENTS AND METHODS: We report the case of a 5-week old infant hospitalized in a pediatric intensive care unit for hemophagocytic lymphohistiocytosis with prolonged fever, splenomegaly, cytopenia, fibrinogen≤1.5g/L, ferritin≥500μg/L, and soluble IL-2 receptor≥2400U/mL...
July 17, 2017: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/28727976/monozygotic-twins-discordant-for-trisomy-13-a-case-of-trisomic-rescue-supporting-the-continued-need-for-first-trimester-ultrasound
#11
Patrick McFadden, Sarah Smithson, Robert Massaro, Jialing Huang, Gail T Prado, Wendy Shertz
Monozygotic twins with discordant karyotypes for trisomy 13 are rare. We report a case of a spontaneously conceived pregnancy who presented with first-trimester ultrasound finding of umbilical cord cyst and increased nuchal translucency in Twin A and no abnormalities in Twin B. Amniocentesis revealed 47,XY,+13 karyotype in Twin A and 46,XY karyotype in Twin B. Selective fetal reduction was performed for Twin A. Twin B was delivered at 32 weeks gestation with normal phenotype. Peripheral blood karyotype revealed 15% mosaicism for trisomy 13 and skin fibroblast revealed 46,XY karyotype...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28726660/pemetrexed-induced-pseudocellulitis-a-rare-cutaneous-adverse-reaction-to-multi-targeted-antifolate-therapy
#12
U Hansel G Zschuppe E Tchernev G Wollina
Pemetrexed is a multi-targeted folate antagonists approved for non-small cell lung cancer and other malignancies. Adverse cutaneous reactions have been reported in up to 1/3 of patients treated. A rare cutaneous adverse reaction is pseudocellulitis. We report about a 62-year-old male patient treated with a combination of cisplatin and pemetrexed for non-small cell lung cancer stage IV who developed about 4 months after initiation of treatment painful, non-febrile erythematous lesions on feet and lower legs...
June 2017: Georgian Medical News
https://www.readbyqxmd.com/read/28726572/successful-forearm-prosthesis-fitting-in-a-patient-with-epidermolysis-bullosa-dystrophica-case-report
#13
Carl Verduyn, Marie-Anne Morren, Marguerite Stas, Friedl Sinnaeve, Katarina Segers, Carlotte Kiekens
BACKGROUND: Epidermolysis bullosa dystrophica is a rare dermatological disease characterized by extreme skin fragility and elevated risk of developing a squamous cell carcinoma. In some cases, amputation of a limb is necessary. Case description and methods: A 37-year-old man with recessive, severe generalized epidermolysis bullosa dystrophica developed a squamous cell carcinoma on the right forearm requiring a below-elbow amputation. Preoperative advice concerning indication and level of amputation was given...
July 1, 2017: Prosthetics and Orthotics International
https://www.readbyqxmd.com/read/28726542/generation-and-functional-characterization-of-anti-human-and-anti-mouse-il-36r-antagonist-monoclonal-antibodies
#14
Rajkumar Ganesan, Ernest L Raymond, Detlev Mennerich, Joseph R Woska, Gary Caviness, Christine Grimaldi, Jennifer Ahlberg, Rocio Perez, Simon Roberts, Danlin Yang, Kavita Jerath, Kristopher Truncali, Lee Frego, Eliud Sepulveda, Priyanka Gupta, Su-Ellen Brown, Michael D Howell, Keith A Canada, Rachel Kroe-Barrett, Jay S Fine, Sanjaya Singh, M Lamine Mbow
Deficiency of interleukin (IL)-36 receptor antagonist (DITRA) syndrome is a rare autosomal recessive disease caused by mutations in IL36RN. IL-36R is a cell surface receptor and a member of the IL1R family that is involved in inflammatory responses triggered in skin and other epithelial tissues. Accumulating evidence suggests that IL-36R signaling may play a role in the pathogenesis of psoriasis. Therapeutic intervention of IL-36R signaling offers an innovative treatment paradigm for targeting epithelial cell-mediated inflammatory diseases such as the life-threatening psoriasis variant called generalized pustular psoriasis (GPP)...
July 20, 2017: MAbs
https://www.readbyqxmd.com/read/28725947/clinical-heterogeneity-of-sapho-syndrome-challenging-diagnose-and-treatment
#15
REVIEW
Francesco Cianci, Angelo Zoli, Elisa Gremese, Gianfranco Ferraccioli
Synovitis, acne, pustulosis, hyperostosis and osteitis (SAPHO) syndrome is a rare disease which is often misdiagnosed and under-recognized, because of its peculiar and heterogeneous clinical presentation. Its main features consist of cutaneous and osteoarticular manifestations, the latter affecting more often the anterior chest wall and having typical radiologic findings. There are no validated diagnostic criteria for SAPHO and no guidelines for treatment, due mainly to its rarity; as a consequence, therapy is empirical and aimed to control pain and modifying inflammatory process...
July 19, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28725344/complete-response-of-mediastinal-clear-cell-sarcoma-to-pembrolizumab-with-radiotherapy
#16
Samuel Marcrom, Jennifer F De Los Santos, Robert M Conry
BACKGROUND: Clear cell sarcoma (CCS) is a rare, aggressive soft tissue sarcoma thought to derive from neural crest and characterized by a 12;22 translocation. The resulting fusion protein directly activates expression of the melanocyte master transcription factor and drives the same down-stream pathways in CCS and melanoma leading to significant clinical parallels between these malignancies. Striking success of immune checkpoint blockade in melanoma has promoted interest in immunotherapy of CCS...
2017: Clinical Sarcoma Research
https://www.readbyqxmd.com/read/28725269/musculoskeletal-echinococcus-infection-as-a-rare-first-presentation-of-hydatid-disease-case-report
#17
A Marzouki, A Naam, S Abdulrazak, B Soumaré, K Lahrach, F Boutayeb
BACKGROUND: Hydatid disease (HD) is a cosmopolitan parasitosis caused by Echinococcus granulosus that can potentially affect any part of the human body. Liver and lungs are the most frequent localizations. Primary musculoskeletal hydatidosis are seldom reported in literature and their incidence is unknown. CASE PRESENTATION: We deem interesting to report a case of a primary hydatid cyst in a 25-year-old patient who presented with a painful swelling of the right elbow...
2017: Patient Safety in Surgery
https://www.readbyqxmd.com/read/28724844/a-review-of-the-active-treatments-for-toxic-epidermal-necrolysis
#18
Yuri Kinoshita, Hidehisa Saeki
Toxic epidermal necrolysis (TEN) is a severe adverse drug reaction associated with the separation of skin and mucous membranes at the dermal-epidermal junction. Although it is rare, many treatments have been trialed because of its high mortality rate. Active interventions performed to date include the use of systemic corticosteroids, intravenous immunoglobulins (IVIg), cyclosporine, plasmapheresis, anti-tumor necrosis factor drugs and N-acetylcysteine, but none has been established as the most effective therapy...
2017: Journal of Nippon Medical School, Nippon Ika Daigaku Zasshi
https://www.readbyqxmd.com/read/28724394/development-of-newborn-screening-connect-nbs-connect-a-self-reported-patient-registry-and-its-role-in-improvement-of-care-for-patients-with-inherited-metabolic-disorders
#19
Yetsa Osara, Kathryn Coakley, Aishwarya Devarajan, Rani H Singh
BACKGROUND: Newborn Screening Connect (NBS Connect) is a web-based self-reported patient registry and resource for individuals and families affected by disorders included in the newborn screening panel. NBS Connect was launched in 2012 by Emory University after years of planning and grassroots work by professionals, consumers, and industry. Individuals with phenylketonuria (PKU), maple syrup urine disease (MSUD) or tyrosinemia (TYR) have been recruited through distribution of outreach materials, presentations at parent organization meetings and direct recruitment at clinic appointments...
July 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28724275/a-case-report-of-paraneoplastic-pemphigus-associated-with-retroperitoneal-inflammatory-myofibroblastic-tumor
#20
Kamran Balighi, Arghavan Azizpour, Ali Sadeghinia, Vahide Saeidi
Paraneoplastic pemphigus (PNP) is an autoimmune bullous disease associated with underlying neoplasms, both malignant and benign. The most constant clinical presentation of PNP is the presence of intractable stomatitis. Herein we present a 25-year-old male with a 3-month history of refractory stomatitis especially involving the lips and widespread vesiculobullous eruption on his trunk and extremities. The diagnosis of PNP was confirmed based on histological and serological results. Investigation for the underlying neoplasm revealed a retroperitoneal tumorous mass which was biopsied and diagnosed as the inflammatory myofibroblastic tumor (IMT)...
May 2017: Acta Medica Iranica
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