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Basal cell nevus syndrome

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https://www.readbyqxmd.com/read/28574612/basal-cell-carcinoma-pathogenesis-and-therapy-involving-hedgehog-signaling-and-beyond
#1
Anshika Bakshi, Sandeep C Chaudhary, Mehtab Rana, Craig A Elmets, Mohammad Athar
Basal cell carcinoma (BCC) of the skin is driven by aberrant hedgehog signaling. Thus blocking this signaling pathway by small molecules such as vismodegib inhibits tumor growth. Primary cilium in the epidermal cells plays an integral role in the processing of hedgehog signaling related proteins. Recent genomic studies point to the involvement of additional genetic mutations that might be associated with the development of BCCs, suggesting significance of other signaling pathways, such as WNT, NOTCH, mTOR, and Hippo, aside from hedgehog in the pathogenesis of this human neoplasm...
June 2, 2017: Molecular Carcinogenesis
https://www.readbyqxmd.com/read/28525403/genetic-diseases-associated-with-an-increased-risk-of-skin-cancer-development-in-childhood
#2
Alexander L Fogel, Kavita Y Sarin, Joyce M C Teng
PURPOSE OF REVIEW: Childhood skin cancers are relatively rare and may indicate an underlying genetic disorder. The increasing elucidation of genetic pathways is changing the diagnosis and management of genetic skin cancer susceptibility syndromes. In this review, we provide an overview of genetic conditions that predispose to skin cancer development in childhood and signs that providers should assess when evaluating affected individuals. RECENT FINDINGS: In basal cell nevus syndrome (BCNS), the patched2 (PTCH2) and suppressor of fused (SUFU) genes have been implicated in disease pathogenesis...
May 18, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28425690/what-s-new-with-common-genetic-skin-disorders
#3
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/28411843/the-molecular-revolution-in-cutaneous-biology-emerging-landscape-in-genomic-dermatology-new-mechanistic-ideas-gene-editing-and-therapeutic-breakthroughs
#4
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/28329640/diagnostic-parameters-of-children-with-basal-cell-carcinoma-nevus-syndrome
#5
Fariha T Siddiqui
Basal Cell Carcinoma Nevus Syndrome (BCCNS) is a multi-system genetic disease characterized by the development of multiple basal cell carcinomas (BCCs), macrocephaly, medulloblastomas, jaw keratocysts, and coarse facial features, amongst other symptoms. The major and minor criteria for adults with BCCNS are often extrapolated for children, however, little is known about the disease presentation of children with BCCNS. Our study focused on bringing the pediatric presentation of BCCNS to light. To the best of our knowledge, we are the first to investigate BCCNS and its medical impact on children...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329629/basal-cell-carcinoma-nevus-syndrome-population-of-patients-negative-for-chromosome-9-mutations
#6
Brittany Urso, Katelyn Updyke, James A Solomon
Patients with Basal Cell Carcinoma Nevus syndrome are assumed to have a chromosome 9 mutation, such as a PTCH1 [9q22] mutation, despite the majority of patients with BCCNS being diagnosed through the presence of major and minor diagnostic criterion. The main treatment for BCCNS, Hedgehog inhibitors (HhI), targets these mutations. The results of an internet based survey of self-identified adults with BCCNS which was launched through SurveyMonkey with access provided by the Basal Cell Carcinoma Nevus Syndrome Life Support Network (www...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28329625/advanced-basal-cell-carcinomas-appear-preferentially-on-the-scalp-of-patients-with-basal-cell-carcinoma-nevus-syndrome
#7
Brittany Urso, Katelyn Updyke, James A Solomon
Basal Cell Carcinoma Nevus Syndrome is a rare condition in which patients need to meet certain major or minor diagnostic criteria or test positive for chromosome 9 or PTCH1 mutations to be diagnosed. The results of an internet based survey of self-identified adults with BCCNS which was launched through SurveyMonkey with access provided by the Basal Cell Carcinoma Nevus Syndrome Life Support Network (www.BCCNS.org). Of 45 respondents, 11 individuals reported having locally advanced BCCs and 6 individuals reported having both locally advanced and metastatic BCCs...
September 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28203156/papular-epidermal-nevus-with-skyline-basal-cell-layer-syndrome-natural-course-case-report-and-literature-review
#8
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
#9
RANDOMIZED CONTROLLED TRIAL
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...
March 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28130791/photodynamic-therapy-for-dermatologic-conditions-in-the-pediatric-population-a-literature-review
#10
REVIEW
Neha Kumar, Christine B Warren
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...
May 2017: Photodermatology, Photoimmunology & Photomedicine
https://www.readbyqxmd.com/read/28111793/dermoscopy-of-papular-epidermal-nevus-with-skyline-basal-cell-layer
#11
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...
March 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
#12
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
#13
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
#14
REVIEW
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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