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https://www.readbyqxmd.com/read/28425690/what-s-new-with-common-genetic-skin-disorders
#1
Janice E Ma, Jennifer L Hand
Familiar genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis complex (TSC), oculocutaneous albinism (OCA), basal cell nevus syndrome (BCNS), incontinentia pigmenti, ichthyosis, and epidermolysis bullosa (EB) have prominent, cutaneous manifestations. This review describes recent advances in knowledge concerning the pathophysiology, diagnosis, and treatment of these skin features. Specifically, clinical diagnostic criteria for incontinentia pigmenti, ichthyosis, and tuberous sclerosis have been updated...
April 20, 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28425593/medium-sized-nevus-spilus-of-the-neck-treated-with-pulsed-dye-laser
#2
Vito Abrusci, Valentina Benzecry
Patients with large benign melanocytic lesions located on the neck represent a therapeutic challenge since the neck is a high-risk area for hypertrophic scarring and/or retraction. When treating a benign, extensive and visible melanocytic lesion, the choice of therapy mainly depends on the likelihood of improved cosmesis. We report a case of a 33-year-old woman with a medium-sized Nevus Spilus located on the neck, successfully treated with four sessions of pulsed dye laser. We achieved an excellent clinical and cosmetic result in such a challenging area...
April 20, 2017: Dermatologic Therapy
https://www.readbyqxmd.com/read/28421149/eccrine-nevus-presenting-with-umbilical-discharge-a-case-report-and-review-of-the-literature
#3
Farahnaz Bidari-Zerehpoosh, Shahram Sabeti, Farid Arman, Hania Shakeri
Eccrine nevus is a rare skin lesion with protean manifestations like hyperhidrosis, discolored nodules, papules, and so forth, which has been reported in various anatomic parts of the body including the forearm, leg, thigh, back, and coccyx. Our patient was a 26-year-old male, who presented with increasing colorless and odorless episodic umbilical discharge. First impression for the patient was an umbilical sinus and the patient underwent surgery. Histopathological study revealed the lesion to be an eccrine nevus of the umbilicus...
2017: Case Reports in Dermatological Medicine
https://www.readbyqxmd.com/read/28419495/giant-proliferating-trichilemmal-cyst-arising-from-a-nevus-sebaceus-growing-for-thirty-years
#4
Scott F Lindsey, Divya Aickara, Alexandra Price, Janelle Pavlis, Erin X Wei, George Elgart, Jeong Hee Cho-Vega
Nevus sebaceus of Jadassohn, a congenital cutaneous hamartoma, has the potential to develop into various epidermal adnexal-origin neoplasms. While the most common neoplasms are trichoblastoma or syringocystadenoma, proliferating trichilemmal cysts are exceptionally rare. We report a case of a 63-year-old Cuban male with a giant proliferating trichilemmal cyst arising from a nevus sebaceus on the right shoulder which had been growing for 30 years. Proliferating trichilemmal cysts arising from nevus sebaceus cases are difficult to diagnose clinically and histologically since they are very rare and have not been defined by exact diagnostic criteria...
April 17, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28413408/choroidal-nevus-associated-neovascular-membrane-demonstrated-by-oct-angiography
#5
Joel Hanhart, Kobi Brosh, Yishay Weill, Yaakov Rozenman
We present a case of choroidal nevus, complicated by a choroidal neovascular membrane (CNV) that was detected by OCT angiography. Choroidal nevi are relatively common intraocular tumors. The presence of subretinal and intraretinal fluids can indicate that a CNV has occurred as a complication, warranting prompt management. However, subretinal and intraretinal fluids are also documented in nevi without CNV. OCT angiography may be of great help in determining whether those fluids are associated or not with a CNV, therefore guiding therapy...
January 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28411843/the-molecular-revolution-in-cutaneous-biology-emerging-landscape-in-genomic-dermatology-new-mechanistic-ideas-gene-editing-and-therapeutic-breakthroughs
#6
REVIEW
Matthias Titeux, Araksya Izmiryan, Alain Hovnanian
Stunning technological advances in genomics have led to spectacular breakthroughs in the understanding of the underlying defects, biological pathways and therapeutic targets of skin diseases leading to new therapeutic interventions. Next-generation sequencing has revolutionized the identification of disease-causing genes and has a profound impact in deciphering gene and protein signatures in rare and frequent skin diseases. Gene addition strategies have shown efficacy in junctional EB and in recessive dystrophic EB (RDEB)...
May 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/28409567/sf3b1-and-bap1-mutations-in-blue-nevus-like-melanoma
#7
Klaus G Griewank, Hansgeorg Müller, Louise A Jackett, Michael Emberger, Inga Möller, Johannes Ap van de Nes, Lisa Zimmer, Elisabeth Livingstone, Thomas Wiesner, Simone L Scholz, Ioana Cosgarea, Antje Sucker, Tobias Schimming, Uwe Hillen, Bastian Schilling, Annette Paschen, Henning Reis, Thomas Mentzel, Heinz Kutzner, Arno Rütten, Rajmohan Murali, Richard A Scolyer, Dirk Schadendorf
Blue nevi are melanocytic tumors originating in the cutaneous dermis. Malignant tumors may arise in association with or resembling blue nevi, so called 'blue nevus-like melanoma', which can metastasize and result in patient death. Identifying which tumors will behave in a clinically aggressive manner can be challenging. Identifying genetic alterations in such tumors may assist in their diagnosis and prognostication. Blue nevi are known to be genetically related to uveal melanomas (eg, both harboring GNAQ and GNA11 mutations)...
April 14, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28407793/the-diagnosis-and-management-of-the-spitz-nevus-in-the-pediatric-population-a-systematic-review-and-meta-analysis%C3%A2-protocol
#8
Jean Abboud, Michael Stein, Michele Ramien, Claudia Malic
BACKGROUND: Spitz nevi are uncommon melanocytic neoplasms found in children. Historically, the diagnosis and management of these tumors has lacked consensus among oncologists, pathologists, plastic surgeons, and dermatologists. Once interpreted and treated as a "juvenile melanoma", many have argued for the benignancy of such tumors in certain patient age groups, encouraging a conservative approach. The lack of consensus surrounding the diagnosis and perceived malignant potential of these tumors has led physicians to approach them on a case-by-case basis and institutional protocols...
April 13, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28405565/nevoid-psoriasis-coexisting-with-verrucous-epidermal-nevus
#9
Vaishali Masatkar, Lalit K Gupta, Sharad Mehta, Ashok K Khare, Asit Mittal
No abstract text is available yet for this article.
March 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28405086/evaluation-and-management-of-an-unusual-congenital-nevus
#10
K Blaire Kerwin, M Alan Menter
Abnormal findings on routine skin exams are common and can be a source of unnecessary medical workup if a clinician is unfamiliar with the finding. Sebaceous nevi are rare skin lesions that are most often benign but may be associated with a multiorgan syndrome or local skin cancer. Dermatologists and primary care physicians may encounter these on routine exams and thus must be comfortable with diagnosis and management. We present the clinical characteristics of a benign sebaceous nevus to help aid in diagnosis of these lesions and outline suggestions for appropriate management options...
April 2017: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/28401589/rhodoid-nevus-syndrome-why-is-this-name-preferable-to-%C3%A2-capillary-malformation-arteriovenous-malformation%C3%A2
#11
Rüdiger Panzer, Rudolf Happle, Regina Fölster-Holst
Until today, the term capillary malformation (CM) designates many quite different skin disorders.(1) One of them - called capillary malformation-arteriovenous malformation (CM-AVM)(2) - represents an autosomal dominant trait caused by mutations in RASA1.(3) We here describe the characteristic CMs of this trait in a child whithout any AVM, and provide arguments why the term CM-AVM should be replaced by "rhodoid nevus syndrome". This article is protected by copyright. All rights reserved.
April 12, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/28401074/proteus-syndrome-with-arteriovenous-malformation
#12
Ali Asilian, Atefeh Sadat Kamali, Nabet Tajmir Riahi, Neda Adibi, Fatemeh Mokhtari
Proteus syndrome is a rare sporadic disorder that appears with localized macrosomia, congenital lipomatosis, and slow flow vascular malformations, connective tissue nevus, and epidermal nevus. There are usually some manifestations at birth. The vascular abnormalities that have been reported in Proteus syndrome are capillary and slow flow venous malformation. We report a case of a 10-year-old boy with confirmed Proteus syndrome characterized by high flow vascular malformation (arteriovenous [AV] malformation) unlike the usual vascular malformations seen in this syndrome...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28400894/surgical-suturing-induced-melanocytic-nevi-a-new-type-of-eruptive-melanocytic-nevi
#13
Alexander C Katoulis, Dimitrios Sgouros, Giuseppe Argenziano, Efstathios Rallis, Ioannis Panayiotides, Dimitrios Rigopoulos
BACKGROUND: Nevogenesis is a complex process involving several pathogenetic mechanisms, including genetic factors, hormonal influences and UV-radiation. Trauma has been described as a triggering factor for an alternative pathway of nevogenesis. Eruptive melanocytic nevi (EMN), related either to immunosuppression or to blistering disorders, represent a special type of nevi probably induced by the disruption of the dermo-epidermal junction and consequent proliferation of quiescent pigment cells during re-epithelization...
November 30, 2016: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/28400644/phacomatosis-cesioflammea-with-cutis-marmorata-like-lesions-and-unusual-extracutaneous-abnormalities-is-it-a-distinct-disorder
#14
Shyam B Verma, Hitesh K Desai, Vishal N Shah, Rudolf Happle
A 2-month-old boy was presented with widespread lateralized blue macules (nevus cesius), an extensive nevus flammeus, and large patches of cutis marmorata telangiectatica congenita. Moreover, he had macrocephaly, a coarse facial appearance with depressed nasal bridge, retinal abnormalities, septal defects of the heart, and obliteration of the left brachiocephalic vein and major veins of the left arm with pronounced collateralization. The multisystem disorder of this boy cannot be categorized within the present classification of distinct types of phacomatosis pigmentovascularis...
March 2017: Indian Journal of Dermatology
https://www.readbyqxmd.com/read/28399347/conjunctival-tumors-review-of-clinical-features-risks-biomarkers-and-outcomes-the-2017-j-donald-m-gass-lecture
#15
Carol L Shields, Jason L Chien, Thamolwan Surakiatchanukul, Kareem Sioufi, Sara E Lally, Jerry A Shields
Conjunctival tumors encompass a broad range of diagnoses. The 3 most important malignant tumors include ocular surface squamous neoplasia (OSSN) (14%), melanoma (12%), and lymphoma (7%). Conjunctival malignancies are rarely found in children. Regarding OSSN, pre-disposing conditions include chronic solar radiation, immune deficiency (HIV), organ transplant, autoimmune conditions, xeroderma pigmentosum, and chronic exposure to cigarette smoke. OSSN is managed surgically or with topical/injection immunotherapy or chemotherapy...
March 2017: Asia-Pacific Journal of Ophthalmology
https://www.readbyqxmd.com/read/28398920/spitz-nevus-intermingling-with-hemangioma-angiomatoid-spitz-nevus-angiotropism-and-vascular-co-option-viewed-with-differing-availability-heuristics
#16
Thomas N Helm, Klaus F Helm
No abstract text is available yet for this article.
March 16, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28398430/successful-treatment-of-ota-nevus-with-the-532-nm-solid-state-picosecond-laser
#17
Kimberly Jerdan, Jeffrey Ts Hsu, Emily Schnurstein
Laser treatment of Ota nevi can be complicated, particularly in darker skin types, as there is a higher risk for adverse effects if the laser is not carefully employed. We report a case of successful treatment of an Ota nevus in a patient with Fitzpatrick skin type IV with the novel 532-nm solid-state picosecond laser after 2 treatments.
March 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28394801/myxoid-spitz-nevi-report-of-6-cases
#18
Angel Fernandez-Flores, Erica Riveiro-Falkenbach, David S Cassarino
Mucin deposition in Spitz nevus seems to be a very rare phenomenon, as there have only been 3 cases previously published. We report 6 additional cases, half of them in women, and half in men. The ages of the patients varied from 5 to 47 years (mean = 30.17). Sizes of the nevi varied from 3 to 6 mm. Four lesions were located on the extremities, whereas one was located on the trunk (there was no clinical information about the other). A vascular lesion was suspected in 2 cases. Excision with clear margins was achieved in all cases but one...
March 27, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28388985/reticulate-acropigmentation-of-kitamura-and-nevus-of-ito
#19
M García-Arpa, M Franco-Muñoz, M A Flores-Terry, C Ramos-Rodríguez
No abstract text is available yet for this article.
April 4, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28385330/a-similar-local-immune-and-oxidative-stress-phenotype-in-vitiligo-and-halo-nevus
#20
Yuqi Yang, Shuli Li, Guannan Zhu, Qian Zhang, Gang Wang, Tianwen Gao, Chunying Li, Lin Wang, Zhe Jian
BACKGROUND: Vitiligo and halo nevus are two common T-cell-mediated skin disorders. Although autoimmunity has been suggested to be involved in both diseases, the relationship between vitiligo and halo nevus is not fully understood. OBJECTIVE: The aim of the current study was to investigate whether vitiligo and halo nevus share the same immunological and oxidative stress response. METHODS: Infiltrations of T cells, and expressions of chemokine receptors (CXCR3, CCR4, CCR5) and cytotoxic markers (Granzyme B, Perforin) in the lesions of vitiligo and halo nevus were examined by immunohistochemistry...
March 19, 2017: Journal of Dermatological Science
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