Database : MEDLINE
Search on : Basal and Cell and Nevus and Syndrome [Words]
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[PMID]: 29267660
[Au] Autor:Ribeiro-Júnior O; Borba AM; Alves CAF; Gouveia MM; Deboni MCZ; Naclério-Homem MDG
[Ad] Address:Universidade de São Paulo - USP, School of Dentistry, Department of Oral & Maxillofacial Surgery, Traumatology and Prosthesis, São Paulo, SP, Brazil.
[Ti] Title:Reclassification and treatment of odontogenic keratocysts: A cohort study.
[So] Source:Braz Oral Res;31:e98, 2017 Dec 18.
[Is] ISSN:1807-3107
[Cp] Country of publication:Brazil
[La] Language:eng
[Ab] Abstract:The odontogenic keratocyst (OKC) is a recurrent cyst that has been recently reclassified from an odontogenic tumor to an odontogenic cyst. The aim of the present study was to investigate its treatment and address issues related to its association with nevoid basal cell carcinoma syndrome (NBCCS). Lesions from the cohort of patients included in the present study consisted of 40 OKCs, of which 27 lesions were treated by enucleation (GE) and 13 underwent decompression (GD). Complementary treatment occurred in 38 (95%) lesions, of which 10 underwent isolated peripheral ostectomy (GO) and 28 underwent peripheral ostectomy combined with Carnoy's solution (GC). Thirteen lesions were associated with NBCCS (GS), while the others (n=27) were non-syndromic lesions (GnS). The recurrence-free periods (RFP) in the sample groups were compared using the Kaplan-Meier function and log-rank test at a significance level of 5% (p < 0.05) and were used to calculate the cumulative risk of recurrence (CRR) in each postoperative year. During the follow-up period, which had a mean of 43.5 months (range: 12-102 months), six (15%) recurrences were diagnosed. There was no significant difference among the RFP for the compared groups (p > 0.05) or increased CRR for the decompression (15.4%) over five years. Application of Carnoy's solution did not increase the efficacy of the peripheral ostectomy, but was related to a CRR of 0% for the syndromic lesions over five years. Therefore, 1) decompression did not increase the recurrence risk; 2) peripheral ostectomy demonstrated a similar efficacy as the combination with Carnoy's solution; 3) the association of NBCCS did not seem to significantly influence OKC recurrence; and 4) syndromic lesions seem to behave in the same manner as non-syndromic lesions when submitted to complementary treatments.
[Mh] MeSH terms primary: Basal Cell Nevus Syndrome/classification
Basal Cell Nevus Syndrome/surgery
Odontogenic Cysts/classification
Odontogenic Cysts/surgery
[Mh] MeSH terms secundary: Acetic Acid/therapeutic use
Adolescent
Adult
Aged
Child
Chloroform/therapeutic use
Decompression, Surgical/methods
Ethanol/therapeutic use
Female
Humans
Male
Mandibular Diseases
Maxillary Diseases
Middle Aged
Odontogenic Tumors/classification
Odontogenic Tumors/surgery
Osteotomy/methods
Photography
Recurrence
Retrospective Studies
Risk Assessment
Risk Factors
Time Factors
Treatment Outcome
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (Carnoy's solution); 3K9958V90M (Ethanol); 7V31YC746X (Chloroform); Q40Q9N063P (Acetic Acid)
[Em] Entry month:1803
[Cu] Class update date: 180308
[Lr] Last revision date:180308
[Js] Journal subset:D; IM
[Da] Date of entry for processing:171222
[St] Status:MEDLINE

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[PMID]: 29403332
[Au] Autor:Temnogorod J; Shinder R
[Ad] Address:Department of Ophthalmology, SUNY Downstate Medical Center, Brooklyn, New York.
[Ti] Title:The best of the best: a review of select oculoplastic case series published in 2015.
[So] Source:Digit J Ophthalmol;23(4):1-3, 2017.
[Is] ISSN:1542-8958
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:This review summarizes three case series published in the field of oculoplastic surgery in the year 2015. The first article describes the use of hedgehog pathway inhibitors for medical therapy of advanced periocular basal cell carcinoma and basal cell nevus syndrome. The second describes the use of c-reactive protein as a marker for starting treatment with steroids in children with orbital cellulitis. The third article presents an endoscopic medial orbital fat decompression technique for treatment of proptosis in thyroid eye disease.
[Mh] MeSH terms primary: Eye Diseases/surgery
Ophthalmologic Surgical Procedures
Periodicals as Topic
Reconstructive Surgical Procedures/methods
[Mh] MeSH terms secundary: Humans
Retrospective Studies
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1803
[Cu] Class update date: 180306
[Lr] Last revision date:180306
[Js] Journal subset:IM
[Da] Date of entry for processing:180207
[St] Status:MEDLINE
[do] DOI:10.5693/djo.01.2017.09.001

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[PMID]: 29488242
[Au] Autor:Rizzoli L; Balestri R; Rech G; Zorzi MG; Speziali L; Pedrolli A; Girardelli CR
[Ad] Address:Division of Dermatology, "U.O. Multizonale," S. Chiara Hospital, Outpatient Consultation for Rare Diseases, Trento, Italy.
[Ti] Title:Familial papular epidermal nevus with "skyline" basal cell layer and multiple pilomatricomas: A new association?
[So] Source:Pediatr Dermatol;, 2018 Feb 28.
[Is] ISSN:1525-1470
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:Papular epidermal nevus with "skyline" basal cell layer is a newly described keratinocytic nevus. Recently, papular epidermal nevus with "skyline" basal cell layer has been reported in association with extracutaneous involvement, and the term papular epidermal nevus with "skyline" basal cell layer syndrome is used to indicate a neurocutaneous syndrome characterized by the presence of papular epidermal nevus with "skyline" basal cell layer and different neurologic symptoms that seem to improve during infancy and adolescence. Multiple pilomatricomas have been reported in association with various syndromes. We report herein papular epidermal nevus with "skyline" basal cell layer associated with multiple pilomatricomas in two members of a family with the aim of drawing attention to this peculiar epidermal nevus to improve our knowledge of the syndrome.
[Pt] Publication type:CASE REPORTS
[Em] Entry month:1803
[Cu] Class update date: 180228
[Lr] Last revision date:180228
[St] Status:Publisher
[do] DOI:10.1111/pde.13428

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[PMID]: 29485834
[Au] Autor:Akaltun A; Eroz R; Dogan M; Bolu S; Onder HI; Onbas O; Kocabay K
[Ti] Title:Basal Cell Nevus (Gorlin) Syndrome with a Novel Heterozygous Deletion Frameshift Mutation (C.959delc, P.val322 Phe Fsx2) in the Ptch1 Gene Associated with Epiretinal Membrane, Odontogenic Keratocysts and without Skin Lesions and Falx Cerebri Calcification.
[So] Source:Genet Couns;27(2):259-62, 2016.
[Is] ISSN:1015-8146
[Cp] Country of publication:Switzerland
[La] Language:eng
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180227
[Lr] Last revision date:180227
[St] Status:In-Process

  5 / 1635 MEDLINE  
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[PMID]: 29471147
[Au] Autor:Maytin EV; Kaw U; Ilyas M; Mack JA; Hu B
[Ad] Address:Department of Dermatology, Cleveland, OH 44195, United States; Department of Biomedical Engineering, Lerner Research Institute, Cleveland, OH 44195, United States; Wellman Center for Photomedicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, United States. Electronic ad
[Ti] Title:Blue light versus red light for photodynamic therapy of basal cell carcinoma in patients with Gorlin syndrome: A bilaterally controlled comparison study.
[So] Source:Photodiagnosis Photodyn Ther;, 2018 Feb 19.
[Is] ISSN:1873-1597
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:BACKGROUND: Photodynamic therapy (PDT) is a non-scarring alternative for treating basal cell carcinoma (BCC) in patients with Basal Cell Nevus Syndrome (BCNS), also known as Gorlin syndrome. In Europe, red light (635 nm) is the predominant source for PDT, whereas in the United States blue light (400 nm) is more widely available. The objective of this study was to conduct a head-to-head comparison of blue light and red light PDT in the same BCNS patients. METHODS: In a pilot study of three patients with 141 BCC lesions, 5-aminolevulinate (20% solution) was applied to all tumors. After 4 hours, half of the tumors were illuminated with blue light and the remainder with red light. To ensure safety while treating this many tumors simultaneously, light doses were escalated gradually. Six treatments were administered in three biweekly sessions over 4 months, with a final evaluation at 6 months. Tumor status was documented with high-resolution photographs. Persistent lesions were biopsied at 6 months. RESULTS: Clearance rates after blue light (98%) were slightly better than after red light (93%), with blue light shown to be statistically non-inferior to red light. Eight suspicious lesions were biopsied, 5 after red light (5/5 were BCC) and 3 after blue light (1 was BCC). Blue light PDT was reportedly less painful. CONCLUSION: Blue light and red light PDT appear to be equally safe and perhaps equally effective for treating BCC tumors in BCNS patients. Further studies to evaluate long-term clearance after blue light PDT are needed.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180222
[Lr] Last revision date:180222
[St] Status:Publisher

  6 / 1635 MEDLINE  
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[PMID]: 29454489
[Au] Autor:Akbari M; Chen H; Guo G; Legan Z; Ghali G
[Ad] Address:Resident, Department of Oral and Maxillofacial surgery, Mount Sinai Medical Center, New York, NY. Electronic address: Maryamh@alumni.dental.upenn.edu.
[Ti] Title:Basal cell nevus syndrome (Gorlin syndrome): genetic insights, diagnostic challenges, and unmet milestones.
[So] Source:Pathophysiology;, 2018 Jan 31.
[Is] ISSN:0928-4680
[Cp] Country of publication:Netherlands
[La] Language:eng
[Ab] Abstract:In this article, we present three clinical case reports on Basal Cell Nevus Syndrome (Gorlin Syndrome). Gorlin syndrome is an inherited medical condition with challenges that manifest in multiple body systems and complicate early diagnosis. We examine the epidemiology of the disease and benefits of genetic testing, molecular pathophysiology, and advancement in the molecular-based therapy of Basal Cell Nevus syndrome. The goal of this paper is to shed light on both unmet challenges and advancements in the management of Gorlin syndrome and to provide a new clinical perspective and guidance for future research. Furthermore, the FDA approved Hedgehog pathway inhibitors Vismodegib and Sonidegib designed for advanced basal cell carcinoma have opened a new door for treatment that may ultimately decrease the number of surgeries for a patient with Gorlin syndrome. The role of these agents in syndromic odontogenic keratocyst has not been studied extensively, but one study found that hedgehog pathway inhibitors decrease the size of syndromic odontogenic keratocyst. Ideal surgical treatment that balances low recurrence rates with low impact on one's quality of life for syndromic odontogenic keratocyst is another unanswered question for oral and maxillofacial surgeons. Per survey studies, treatment options practiced for syndromic odontogenic keratocyst range from marsupialization to segmental osteotomy. Future studies performed should take a comprehensive long-term approach with at least three years of follow-up in order to determine the most appropriate treatment.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1802
[Cu] Class update date: 180218
[Lr] Last revision date:180218
[St] Status:Publisher

  7 / 1635 MEDLINE  
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[PMID]: 29287708
[Au] Autor:Wolkow N; Jakobiec FA; Yoon MK
[Ad] Address:David Cogan Ophthalmic Pathology Laboratory, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.
[Ti] Title:Intratarsal keratinous eyelid cysts in Gorlin syndrome: A review and reappraisal.
[So] Source:Surv Ophthalmol;, 2017 Dec 27.
[Is] ISSN:1879-3304
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:A 38-year-old woman presented with multiple bilateral recurrent eyelid cysts. Her medical history was notable for Gorlin (nevoid basal cell carcinoma) syndrome. Histopathologic and immunohistochemical examinations revealed that the lesions were intratarsal keratinous cysts. They were similar in appearance to sporadic intratarsal keratinous cysts and closely resembled odontogenic keratocysts of the jaw. Eyelid cysts occur in up to 40% of patients with Gorlin syndrome; however, their description has been cursory and, for the most part, outside of the ophthalmic literature. Although ophthalmologists are familiar with the periocular basal cell carcinomas that occur in patients with Gorlin syndrome, up to 10% of patients never develop a basal cell carcinoma, but they may manifest other ophthalmic findings. Awareness of these other features may contribute to the earlier diagnosis of the syndrome. We discuss the clinical and histopathologic features of intratarsal keratinous cysts in Gorlin syndrome, comparing them to sporadic intratarsal keratinous cysts, other eyelid cysts, and jaw cysts that also characterize this syndrome. We briefly review the ocular and systemic manifestations of Gorlin syndrome and recent genetic and therapeutic developments so that the eyelid cysts may be appreciated within the appropriate context of Gorlin syndrome as a whole.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1712
[Cu] Class update date: 180211
[Lr] Last revision date:180211
[St] Status:Publisher

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[PMID]: 29277811
[Au] Autor:Ponti G; Manfredini M; Pastorino L; Maccaferri M; Tomasi A; Pellacani G
[Ad] Address:Clinical Pathology Unit, Surgical, Medical and Dental Department of Morphological Sciences related to Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy giovanni.ponti@unimore.it.
[Ti] Title: Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS).
[So] Source:Anticancer Res;38(1):471-476, 2018 01.
[Is] ISSN:1791-7530
[Cp] Country of publication:Greece
[La] Language:eng
[Ab] Abstract:BACKGROUND/AIM: Nevoid basal cell carcinoma syndrome (NBCCS) is an autosomal dominantly inherited disorder characterized by multiple basal cell carcinomas (BCC), odontogenic tumors and various skeletal anomalies. Basaloid follicular hamartomas (BFHs) constitute rare neoplasms that can be detected in sporadic and familial settings as in the Basaloid Follicular Hamartoma Syndrome (BFHS). Although BFHS shares clinical, histopathological and genetic overlapping with the NBCCS, they are still considered two distinctive entities. The aim of our single-institution study was the analysis of a cohort of PTCH1-mutated patients in order to define clinical and biomolecular relationship between NBCCS and BFHs. MATERIALS AND METHODS: In our study we evaluated PTCH1 gene-carrier probands affected by NBCCS to detect the incidence of BFHs and their correlation with this rare syndrome. RESULTS: Among probands we recognized 4 patients with BFHs. We found 15 germline PTCH1 mutations, uniformly distributed across the PTCH1 gene. Six of them had familial history of NBCCS, two of them were novel and have not been described previously. CONCLUSION: NBCCS and BFHS may be the same genetic entity and not two distinctive syndromes. The inclusion of BFH in the NBCCS cutaneous tumor spectrum might be useful for the recognition of misdiagnosed NBCCS cases that could benefit from tailored surveillance strategies.
[Mh] MeSH terms primary: Basal Cell Nevus Syndrome/genetics
Hair Follicle/abnormalities
Hamartoma/genetics
Patched-1 Receptor/genetics
Skin Diseases, Genetic/genetics
Skin Neoplasms/genetics
[Mh] MeSH terms secundary: Adult
Aged
Aged, 80 and over
Basal Cell Nevus Syndrome/diagnosis
Basal Cell Nevus Syndrome/pathology
Female
Germ-Line Mutation/genetics
Hair Follicle/pathology
Hamartoma/diagnosis
Hamartoma/pathology
Humans
Male
Middle Aged
Skin Diseases, Genetic/diagnosis
Skin Diseases, Genetic/pathology
Skin Neoplasms/pathology
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (PTCH protein, human); 0 (Patched-1 Receptor)
[Em] Entry month:1801
[Cu] Class update date: 180104
[Lr] Last revision date:180104
[Js] Journal subset:IM
[Da] Date of entry for processing:171227
[St] Status:MEDLINE

  9 / 1635 MEDLINE  
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[PMID]: 29136303
[Au] Autor:Shih S; Urso BA; Domozych R; Updyke KM; Laughlin AI; Solomon JA
[Ad] Address:University of Central Florida College of Medicine, Orlando, Florida.
[Ti] Title:Chromosome 9 mutations reported absent in some patients with Basal Cell Carcinoma Nevus Syndrome.
[So] Source:J Eur Acad Dermatol Venereol;, 2017 Nov 14.
[Is] ISSN:1468-3083
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:Basal Cell Carcinoma Nevus Syndrome (BCCNS), also known as Gorlin syndrome, is a rare autosomal dominant condition with a substantial disease burden, thought to occur secondary to chromosome 9 mutation evoking a Hedgehog (Hh) signaling aberration that leads to early development of numerous basal cell carcinomas (BCCs). Individuals with BCCNS also present with keratocystic odontogenic tumors, medulloblastomas, and palmar or plantar pits1. This condition demonstrates variable expressivity, leading to differing phenotypes, even within the same family2. BCCNS diagnosis requires meeting two major or one major and two minor criteria (Table 1) or presence of Chromosome 9 and/or PTCH1 mutations1. This article is protected by copyright. All rights reserved.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1711
[Cu] Class update date: 171114
[Lr] Last revision date:171114
[St] Status:Publisher
[do] DOI:10.1111/jdv.14689

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[PMID]: 29120812
[Au] Autor:Fink AZ; Gittler JK; Nakrani RN; Alis J; Blumfield E; Levin TL
[Ad] Address:Department of Radiology, Division of Pediatric Radiology, Montefiore Medical Center, Bronx, NY, United States.
[Ti] Title:Imaging findings in systemic childhood diseases presenting with dermatologic manifestations.
[So] Source:Clin Imaging;49:17-36, 2017 Oct 31.
[Is] ISSN:1873-4499
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:PURPOSE: Many childhood diseases often present with skin abnormalities with which radiologists are largely unfamiliar. Knowledge of associated dermatologic manifestations may aid the radiologist in confirming the diagnosis and recommending targeted imaging of affected organs. METHODS: We review the imaging findings in childhood diseases associated with dermatologic manifestations. FINDINGS: Diseases include dermatologic findings which herald underlying malignancy (Neuroblastoma, leukemia/lymphoma, Langerhans cell histiocytosis),are associated with risk of malignancy (Epidermolysis Bullosa, basal cell nevus syndrome, Cowden's syndrome, Tuberous Sclerosis),or indicate a systemic inflammatory/immune disorder (Kawasaki's disease, Henoch Schonlein Purpura, systemic lupus erythematosus, scleroderma, sarcoidosis, dermatomyositis and immune thrombocytopenic purpura). CONCLUSION: Familiarity with pertinent findings in childhood diseases presenting with dermatologic manifestations in childhood diseases aids the radiologist in confirming the diagnosis and guiding imaging workup.
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1711
[Cu] Class update date: 171109
[Lr] Last revision date:171109
[St] Status:Publisher


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