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facial angiofibroma

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https://www.readbyqxmd.com/read/30123982/facial-angiofibromas-treated-by-rapamycin-0-05-ointment-and-a-combined-laser-therapy
#1
Francesca Negosanti, Vera Tengattini, Carlotta Gurioli, Iria Neri
BACKGROUND: Tuberous sclerosis is an autosomal dominant genodermatosis characterized by nonmalignant hamartomas in multiple organs. Facial angiofibromas are most commonly located on the face and have the potential to cause disfigurement. Facial disfigurement negatively affects the quality of life of patients and their families, often leading to negative psychosocial outcomes. Nowadays there are no treatment guidelines for facial angiofibromas but due to the progressive nature of facial angiofibromas a safe technique offering good results is needed...
August 19, 2018: Journal of Cosmetic Dermatology
https://www.readbyqxmd.com/read/30005880/infratemporal-fossa-tumors-when-to-suspect-a-malignant-tumor-a-retrospective-cohort-study-of-62-cases
#2
Q Lisan, N Leclerc, R Kania, J-P Guichard, P Herman, B Verillaud
OBJECTIVES: Infratemporal fossa (ITF) tumors are rare and little is known about their general epidemiology, making it sometimes difficult for clinicians, who seldom encounter them, to distinguish between benign and malignant forms on the basis of the initial clinical and radiological work-up alone. The objectives of this retrospective study were: (i) to determine the respective prevalences of the various histologic types of ITF tumor, and (ii) to assess associations between certain clinical and radiological features and malignancy...
July 10, 2018: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/29925060/comparative-effects-of-topical-0-2-sirolimus-for-angiofibromas-in-adults-and-pediatric-patients-with-tuberous-sclerosis-complex
#3
Young In Lee, Ju Hee Lee, Do Young Kim, Kee Yang Chung, Jung U Shin
BACKGROUND: Recent reports have suggested that the topical formulation of sirolimus is effective in treating facial angiofibromas in tuberous sclerosis complex (TSC). Here, we determined the safety and efficacy of 0.2% topical sirolimus for the treatment of facial angiofibroma and compared its effects based on age. METHOD: This was a retrospective study which involved 36 TSC patients with facial angiofibromas who were treated with 0.2% sirolimus ointment. Its effect was evaluated using the Facial Angiofibroma Severity Index (FASI)...
2018: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/29800048/efficacy-and-safety-of-topical-rapamycin-in-patients-with-facial-angiofibromas-secondary-to-tuberous-sclerosis-complex-the-treatment-randomized-clinical-trial
#4
Mary Kay Koenig, Cynthia S Bell, Adelaide A Hebert, Joan Roberson, Joshua A Samuels, John M Slopis, Patti Tate, Hope Northrup
Importance: Facial angiofibromas occur in approximately 75% of individuals with tuberous sclerosis complex (TSC), causing substantial morbidity and disfigurement. Current therapies are partially effective, uncomfortable, produce scarring, and need repeating to treat recurrence. Objective: To evaluate the efficacy and safety of topical rapamycin for TSC-related facial angiofibromas. Design, Setting, and Participants: This prospective, multicenter, randomized, double-blind, vehicle-controlled trial with 6 monthly clinic visits enrolled 179 patients with TSC-related facial angiofibromas not treated within 6 months from May 2012 to March 2014 in 9 clinical sites in the United States and 1 in Australia...
July 1, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/29800026/sirolimus-gel-treatment-vs-placebo-for-facial-angiofibromas-in-patients-with-tuberous-sclerosis-complex-a-randomized-clinical-trial
#5
Mari Wataya-Kaneda, Yuuki Ohno, Yasuyuki Fujita, Hiroo Yokozeki, Hironori Niizeki, Masaaki Ogai, Kazuyoshi Fukai, Hiroshi Nagai, Yuichi Yoshida, Izumi Hamada, Taihei Hio, Kenji Shimizu, Hiroyuki Murota
Importance: Most patients with tuberous sclerosis complex (TSC), an autosomal-dominant disorder that is caused by the constitutive activation of mammalian target of rapamycin, experience disfigurement caused by skin lesions involving facial angiofibromas. Many have been left untreated because of a lack of therapeutic options that are less invasive than surgery or laser treatment. Objective: To confirm the efficacy and safety of sirolimus gel, 0.2%, for treatment of patients with angiofibromas and/or skin lesions...
July 1, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/29701176/consequences-of-delay-in-screening-monitoring-and-treatment-of-angiomyolipoma-and-tuberous-sclerosis-a-case-report
#6
Tanjala T Gipson
BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem disorder that results in tumor growth in various organs. TSC can affect the kidneys in the form of renal angiomyolipomas and cysts that can lead to chronic kidney disease. CASE PRESENTATION: A 38-year-old woman was referred to Kennedy Krieger Institute for comprehensive TSC management. Before referral, the patient had gone most of her life without a definite diagnosis of TSC despite visually-prominent signs such as forehead plaques, facial angiofibromas, and ungual fibromas...
July 2018: Clinical Nephrology
https://www.readbyqxmd.com/read/29687738/ganglioglioma-epilepsy-and-intellectual-impairment-due-to-familial-tsc1-deletion
#7
Tal Gilboa, Reeval Segel, Sharon Zeligson, Gheona Alterescu, Hilla Ben-Pazi
BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem disorder diagnosed by clinical criteria and/or genetic testing. Genetic testing reveals atypical phenotypes that have not met clinical criteria, with practical implications. METHODS: We describe 4 family members with pathogenic partial deletion in TSC1 who individually did not meet tuberous sclerosis complex clinical criteria. RESULTS: Family members had different and atypical findings of tuberous sclerosis complex...
June 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29488393/facial-palsy-following-embolization-of-a-juvenile-nasopharyngeal-angiofibroma
#8
Kareem O Tawfik, Jeffrey J Harmon, Zoe Walters, Ravi Samy, Alessandro de Alarcon, Shawn M Stevens, Todd Abruzzo
OBJECTIVES: To describe a case of the rare complication of facial palsy following preoperative embolization of a juvenile nasopharyngeal angiofibroma (JNA). To illustrate the vascular supply to the facial nerve and as a result, highlight the etiology of the facial nerve palsy. METHODS: The angiography and magnetic resonance (MR) imaging of a case of facial palsy following preoperative embolization of a JNA is reviewed. RESULTS: A 13-year-old male developed left-sided facial palsy following preoperative embolization of a left-sided JNA...
May 2018: Annals of Otology, Rhinology, and Laryngology
https://www.readbyqxmd.com/read/29469743/treatment-of-selective-antibody-deficiency-with-ivig-resulting-in-decreased-frequency-of-streptococcal-infection-and-improvement-of-guttate-psoriasis
#9
Maulik M Dhandha, Elaine C Siegfried, Alan P Knutsen
The association between guttate psoriasis and infection with group A Streptococcus (GAS) has been well established in the medical literature. However, responses to treatments aimed at GAS eradication such as systemic antibiotics or tonsillectomy are inconsistent. Further complicating treatment recommendations for a disease with a suspected microbial trigger, the standard therapy for severe psoriasis is with systemic immunosuppressant medications. This case report illustrates the role of GAS as a trigger for acute onset severe psoriasis in a child whose skin disease initially worsened with a trial of methotrexate...
August 15, 2017: Dermatology Online Journal
https://www.readbyqxmd.com/read/29459606/clinical-and-neuro-radiological-presentation-of-tuberous-sclerosis-complex-in-tertiary-care-centre
#10
G K Kundu, S Ahmed, S Akhter, M T Islam, T Dwa, A M Sabbir
Tuberous sclerosis complex (TSC) is a common neurocutaneous disorder characterized by hamartomatous changes in the lungs, brain, kidneys, skin, heart, and other organs. This retrospective study was done to see the clinical presentation and neuro imaging pattern of TSC in a tertiary care centre of Bangladesh and was conducted at Pediatric Neurology Unit of Bangabandhu Sheikh Mujib Medical University (BSMMU), Dhaka, Bangladesh from January 2013 to December 2013. Among total 10 patients male-female ratio was 3:2...
January 2018: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/29184811/dermatologic-manifestations-of-endocrine-disorders
#11
REVIEW
Michael Lause, Alisha Kamboj, Esteban Fernandez Faith
The skin serves as a window for clinicians to understand, diagnose, and monitor endocrine disease. Dermatologic manifestations of endocrinopathies contribute significantly to an individual's health and quality of life. In this review, we outline various disorders of the hypothalamic-pituitary axis, thyroid gland, pancreas, adrenal gland, and androgen axis as well as hereditary endocrine syndromes. In acromegaly, glycosaminoglycan deposition contributes to a thickening of skin and soft tissue, which manifests as coarsening and enlargement of facial and acral structures...
October 2017: Translational pediatrics
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