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Basal cell nevus syndrome

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https://www.readbyqxmd.com/read/28203156/papular-epidermal-nevus-with-skyline-basal-cell-layer-syndrome-natural-course-case-report-and-literature-review
#1
Carole Anouk Zahn, Peter Itin
Papular epidermal nevus with "skyline" basal cell layer (PENS) is a very rare type of keratinocytic nevus and is associated with extracutaneous findings such as neurological symptoms in about 50% of the cases. Therefore, it is also referred to as PENS syndrome. Clinically visible hyperkeratotic papules and plaques already appear at birth or shortly thereafter, while neurological symptoms such as epilepsy and mental retardation manifest themselves during childhood. Genetics suggests gonadal mosaicism as a possible cause for the disease...
January 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28188086/two-intermittent-vismodegib-dosing-regimens-in-patients-with-multiple-basal-cell-carcinomas-mikie-a-randomised-regimen-controlled-double-blind-phase-2-trial
#2
Brigitte Dréno, Rainer Kunstfeld, Axel Hauschild, Scott Fosko, David Zloty, Bruno Labeille, Jean-Jacques Grob, Susana Puig, Frank Gilberg, Daniel Bergström, Damian R Page, Gary Rogers, Dirk Schadendorf
BACKGROUND: Vismodegib, a first-in-class Hedgehog-pathway inhibitor, is approved for use in adults with advanced basal-cell carcinoma. Patients with multiple basal-cell carcinomas, including those with basal-cell nevus (Gorlin) syndrome, need extended treatment. We assessed the safety and activity of two long-term intermittent vismodegib dosing regimens in patients with multiple basal-cell carcinomas. METHODS: In this randomised, regimen-controlled, double-blind, phase 2 trial, we enrolled adult patients with multiple basal-cell carcinomas, including those with basal-cell nevus syndrome, who had one or more histopathologically confirmed and at least six clinically evident basal-cell carcinomas...
February 7, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28130791/photodynamic-therapy-for-dermatologic-conditions-in-the-pediatric-population-a-literature-review
#3
REVIEW
Neha Kumar, Christine B Warren
BACKGROUND: Photodynamic therapy (PDT), using topical aminolevulinic acid (ALA), has been used for years to treat a variety of dermatologic conditions, including actinic keratosis, superficial basal cell carcinoma, and in situ squamous cell carcinoma. While there is a wide range of neoplastic and non-neoplastic skin diseases for which ALA-PDT is used in adults, there is a knowledge gap when it comes to its use in children. This review highlights what is currently known regarding the use and efficacy of this therapy in the pediatric population...
January 28, 2017: Photodermatology, Photoimmunology & Photomedicine
https://www.readbyqxmd.com/read/28111793/dermoscopy-of-papular-epidermal-nevus-with-skyline-basal-cell-layer
#4
Riccardo Balestri, Laura Rizzoli, Giulia Rech, Carlo Renè Girardelli
Papular epidermal nevus with skyline basal cell layer (PENS) is a newly described keratinocytic nevus whose dermoscopic characteristics have not been clarified. We used a dermatoscope to investigate the multiple PENSs of a patient with PENS syndrome. All the lesions shared a common dermoscopic homogeneous white pattern surrounded by peripheral, slightly dotted hyperpigmentation. The smallest lesions had no other features, whereas the largest lesions had some scaling, directly proportional to their dimension, and a central, clear, pink discoloration...
January 23, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/27902821/risk-factors-for-basal-cell-carcinoma-among-patients-with-basal-cell-nevus-syndrome-development-of-a-basal-cell-nevus-syndrome-patient-registry
#5
Daniel C Solis, Gina P Kwon, Katherine J Ransohoff, Shufeng Li, Harvind S Chahal, Mina S Ally, Marieke A D Peters, Kristi Schmitt-Burr, Joselyn Lindgren, Irene Bailey-Healy, Joyce M Teng, Ervin H Epstein, Jean Y Tang
Importance: Patients with basal cell nevus syndrome (BCNS) have a greater risk of developing numerous basal cell carcinomas (BCCs). Risk factors influencing the wide variation in tumor burden are poorly understood. Objective: To describe the burden of BCCs in patients with BCNS in the United States and identify potential risk factors for BCCs. Design, Setting, and Participants: Prospective clinical registry with data collected from September 2014 to March 2016...
November 30, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27857042/odontogenic-keratocysts-in-the-basal-cell-nevus-gorlin-goltz-syndrome-associated-with-paresthesia-of-the-lower-jaw-case-report-retrospective-analysis-of-a-representative-czech-cohort-and-recommendations-for-the-early-diagnosis
#6
Milan Hubacek, Tereza Kripnerova, Michaela Nemcikova, Anna Krepelová, Alena Puchmajerova, Marcela Malikova, Markéta Havlovicová, Jana Cadova, Roman Kodet, Milan Macek, Tatjana Dostalova
OBJECTIVES: Identification of early presenting signs of the Basal Cell Nevus (BCNS; synonyme Gorlin-Goltz) syndrome, which is associated with a principal triad of multiple basal cell nevi, jaw odontogenic keratocysts, and skeletal anomalies, in stomatological and neurological practices. Proposal of multidisciplinary diagnostic algorithm comprising other medical specialists, including pathology, imaging, laboratory and molecular analyses based on the study outcomes. DESIGN: Case report of a male patient reporting paresthesia of their lower jaw, with right facial asymmetry (maxilla and mandible) and radiological detection of large osteolytic lesions in both jaws, including a retrospective analysis of a representative Czech cohort with BCNS from within the last decade...
September 2016: Neuro Endocrinology Letters
https://www.readbyqxmd.com/read/27738570/basal-cell-carcinoma-of-the-umbilicus-a-comprehensive-literature-review
#7
Saisindhu Narala, Philip R Cohen
Basal cell carcinoma (BCC) typically occurs in sun-exposed sites. Only 16 individuals with umbilical BCC have been described in the literature, and the characteristics of patients with umbilical BCC are summarized. PubMed was used to search the following terms: abdomen, basal cell carcinoma, basal cell nevus syndrome, and umbilicus. Papers with these terms and references cited within these papers were reviewed. BCC of the umbilicus has been reported in five men and 11 women; one man had two tumors. Two patients had basal cell nevus syndrome (BCNS)...
September 7, 2016: Curēus
https://www.readbyqxmd.com/read/27581207/safety-and-efficacy-of-vismodegib-in-patients-with-basal-cell-carcinoma-nevus-syndrome-pooled-analysis-of-two-trials
#8
Anne Lynn S Chang, Sarah T Arron, Michael R Migden, James A Solomon, Simon Yoo, Bann-Mo Day, Edward F McKenna, Aleksandar Sekulic
BACKGROUND: Aberrant activation of the Hedgehog (Hh) pathway is a key driver in the pathogenesis of basal cell carcinomas (BCCs), including patients with BCC nevus syndrome (BCCNS). It is unclear whether BCCs arising in patients with BCCNS respond differently to vismodegib than in patients without BCCNS. We examined the best overall response rate (BORR) and adverse events (AEs) of vismodegib in patients with advanced BCC (aBCC) with and without BCCNS. METHODS: Patients were treated with vismodegib 150 mg/day in the ERIVANCE BCC trial (ClinicalTrials...
September 1, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27555886/cytotoxic-and-targeted-therapy-for-hereditary-cancers
#9
REVIEW
Aglaya G Iyevleva, Evgeny N Imyanitov
There is a number of drugs demonstrating specific activity towards hereditary cancers. For example, tumors in BRCA1/2 mutation carriers usually arise via somatic inactivation of the remaining BRCA allele, which makes them particularly sensitive to platinum-based drugs, PARP inhibitors (PARPi), mitomycin C, liposomal doxorubicin, etc. There are several molecular assays for BRCA-ness, which permit to reveal BRCA-like phenocopies among sporadic tumors and thus extend clinical indications for the use of BRCA-specific therapies...
2016: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/27533646/basal-cell-nevus-syndrome-presenting-as-epiretinal-membrane-and-myelinated-nerve-fiber-layer
#10
Nathan D Farley, Thérèse M Sassalos, Michael D Ober
PURPOSE: To report a case of epiretinal membrane and myelinated nerve fiber layer, which preceded the diagnosis of basal cell nevus syndrome, in a young girl. METHODS: Observational case report. RESULTS: A 12-year-old girl was referred for an asymptomatic epiretinal membrane. Examination revealed epiretinal membrane in the right eye without posterior vitreous separation or vitreous abnormality and bilateral myelinated nerve fiber layer. Subsequent workup yielded pathologic diagnosis of multiple skin basal cell carcinoma and odontogenic keratocysts in the jaw...
January 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27513585/ingenol-mebutate-treatment-in-a-patient-with-gorlin-syndrome
#11
Marco Stieger, Robert E Hunger
BACKGROUND: Gorlin syndrome, also known as the basal cell nevus syndrome (OMIM #109400), is a rare autosomal-dominant genetic disease. The disease, which shows mutation of the patched receptor gene (PTCH1) of the sonic hedgehog pathway, is characterized by developing multiple basal cell carcinomas (BCCs) in adolescent patients. Other clinical features include mandibular keratocysts, palmar and plantar pits, skeletal abnormalities and malformations central nervous system and genital tract...
2016: Dermatology: International Journal for Clinical and Investigative Dermatology
https://www.readbyqxmd.com/read/27388747/akt1-activation-is-obligatory-for-spontaneous-bcc-tumor-growth-in-a-murine-model-that-mimics-some-features-of-basal-cell-nevus-syndrome
#12
Arianna L Kim, Jung Ho Back, Yucui Zhu, Xiuwei Tang, Nathan P Yardley, Katherine J Kim, Mohammad Athar, David R Bickers
Patients with basal cell nevus syndrome (BCNS), also known as Gorlin syndrome, develop numerous basal cell carcinomas (BCC) due to germline mutations in the tumor suppressor PTCH1 and aberrant activation of Hedgehog (Hh) signaling. Therapies targeted at components of the Hh pathway, including the smoothened (SMO) inhibitor vismodegib, can ablate these tumors clinically, but tumors recur upon drug discontinuation. Using SKH1-Ptch1(+/-) as a model that closely mimics the spontaneous and accelerated growth pattern of BCCs in patients with BCNS, we show that AKT1, a serine/threonine protein kinase, is intrinsically activated in keratinocytes derived from the skin of newborn Ptch1(+/-) mice in the absence of carcinogenic stimuli...
October 2016: Cancer Prevention Research
https://www.readbyqxmd.com/read/26981489/multiple-keratocystic-odontogenic-tumors-in-nevoid-basal-cell-carcinoma-syndrome
#13
Treville Pereira, Avinash Tamgadge, Swati Sapdhare, Ashwini Pujar
Keratocystic odontogenic tumor (KCOT) is of particular interest because its recurrence rate is high and its behavior is aggressive. Nevoid basal cell carcinoma syndrome (NBCCS), which is also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and with a predisposition to neoplasms. These multiple KCOTs have warranted an aggressive treatment at the earliest because of the damage and possible complications. Recurrence of these lesions is a characteristic feature that has to be considered while explaining the prognosis to the patient...
July 2015: Annals of Maxillofacial Surgery
https://www.readbyqxmd.com/read/26971503/nevoid-basal-cell-carcinoma-syndrome-gorlin-syndrome
#14
REVIEW
Scott C Bresler, Bonnie L Padwa, Scott R Granter
Nevoid basal cell carcinoma syndrome, or basal cell nevus syndrome (Gorlin syndrome), is a rare autosomal dominantly inherited disorder that is characterized by development of basal cell carcinomas from a young age. Other distinguishing clinical features are seen in a majority of patients, and include keratocystic odontogenic tumors (formerly odontogenic keratocysts) as well as dyskeratotic palmar and plantar pitting. A range of skeletal and other developmental abnormalities are also often seen. The disorder is caused by defects in hedgehog signaling which result in constitutive pathway activity and tumor cell proliferation...
June 2016: Head and Neck Pathology
https://www.readbyqxmd.com/read/26914338/increased-risk-of-cutaneous-squamous-cell-carcinoma-after-vismodegib-therapy-for-basal-cell-carcinoma
#15
Shalini V Mohan, Julia Chang, Shufeng Li, A Solomon Henry, Douglas J Wood, Anne Lynn S Chang
IMPORTANCE: Smoothened inhibitors (SIs) are a new type of targeted therapy for advanced basal cell carcinoma (BCC), and their long-term effects, such as increased risk of subsequent malignancy, are still being explored. OBJECTIVE: To evaluate the risk of developing a non-BCC malignancy after SI exposure in patients with BCC. DESIGN, SETTING, AND PARTICIPANTS: A case-control study at Stanford Medical Center, an academic hospital. Participants were higher-risk patients with BCC diagnosed from January 1, 1998, to December 31, 2014...
May 1, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/26822128/segmental-basal-cell-naevus-syndrome-caused-by-an-activating-mutation-in-smoothened
#16
Z Khamaysi, R Bochner, M Indelman, L Magal, E Avitan-Hersh, O Sarig, E Sprecher, R Bergman
Aberrant sonic hedgehog signalling, mostly due to PTCH1 mutations, has been shown to play a central role in the pathogenesis of basal cell carcinoma (BCC), as well as in basal cell naevus syndrome (BCNS). Mutations in smoothened (SMO) encoding a receptor for sonic hedgehog have been reported in sporadic BCCs but not in BCNS. We report a case with multiple BCCs, pits and comedones in a segmental distribution over the upper part of the body, along with other findings compatible with BCNS. Histopathologically, there were different types of BCC...
July 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/26564075/basal-cell-nevus-syndrome-or-gorlin-syndrome
#17
REVIEW
Srikanth Thalakoti, Thomas Geller
Basal cell nevus syndrome (BCNS) or Gorlin syndrome is a rare neurocutaneous syndrome sometimes known as the fifth phacomatosis, inherited in autosomal dominant fashion with complete penetrance and variable expressivity. Gorlin syndrome is characterized by development of multiple basal cell carcinomas (BCCs), jaw cysts, palmar or plantar pits, calcification of falx cerebri, various developmental skeletal abnormalities such as bifid rib, hemi- or bifid vertebra and predisposition to the development of various tumors...
2015: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/26509945/intermittent-vismodegib-therapy-in-basal-cell-nevus-syndrome
#18
Xinyi Yang, Scott M Dinehart
No abstract text is available yet for this article.
February 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/26449153/basal-cell-carcinoma-of-the-skin-part-1-epidemiology-pathology-and-genetic-syndromes
#19
REVIEW
Tiago Ribeiro Correia de Sá, Roberto Silva, José Manuel Lopes
Basal cell carcinoma (BCC) is the most common skin cancer worldwide with increasing incidence, but difficult to assess due to the current under registration practice. Despite the low mortality rate, BCC is a cause of great morbidity and an economic burden to health services. There are several risk factors that increase the risk of BCC and partly explain its incidence. Low-penetrance susceptibility alleles, as well as genetic alterations in signaling pathways, namely SHH pathway, also contribute to the carcinogenesis...
November 2015: Future Oncology
https://www.readbyqxmd.com/read/26409035/basal-cell-naevus-syndrome-an-update-on-genetics-and-treatment
#20
REVIEW
A M John, R A Schwartz
Basal cell naevus syndrome is an autosomal dominant disorder that stems from mutations in multiple genes, most commonly patched 1 (PTCH1). The classic triad of symptoms consists of basal cell carcinomas, jaw keratocysts and cerebral calcifications, although there are many other systemic manifestations. Because of the broad range of symptoms and development of several types of tumours, early diagnosis and close monitoring are essential to preserve quality of life. Targeting treatment is often difficult because of tumour prevalence...
January 2016: British Journal of Dermatology
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