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Basal cell nevus syndrome

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https://www.readbyqxmd.com/read/29136303/chromosome-9-mutations-reported-absent-in-some-patients-with-basal-cell-carcinoma-nevus-syndrome
#1
S Shih, B A Urso, R Domozych, K M Updyke, A I Laughlin, J A Solomon
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...
November 14, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29120812/imaging-findings-in-systemic-childhood-diseases-presenting-with-dermatologic-manifestations
#2
REVIEW
Adam Z Fink, Julia K Gittler, Radhika N Nakrani, Jonathan Alis, Einat Blumfield, Terry L Levin
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)...
October 31, 2017: Clinical Imaging
https://www.readbyqxmd.com/read/29111235/genomic-stability-in-syndromic-basal-cell-carcinoma
#3
Audris Chiang, Prajakta D Jaju, Prag Batra, Melika Rezaee, Ervin H Epstein, Jean Y Tang, Kavita Y Sarin
Basal cell cancers (BCCs) are characterized by up-regulation of Hedgehog pathway through loss of Patched1 or activation of Smoothened, and smoothened-inhibitors such as vismodegib are effective therapies for advanced BCCs. Although most BCCs are sporadic, rare individuals with Basal Cell Nevus Syndrome (BCNS) harbor germline defects in Patched1 and develop up to hundreds of tumors that are histopathologically indistinguishable from sporadic BCCs. Interestingly, BCNS-BCCs are more responsive to Smoothened-inhibitors than sporadic BCCs, with minimal development of resistance...
October 27, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29039452/molecular-analysis-of-keratocystic-odontogenic-tumor-cell-lines-derived-from-sporadic-and-basal-cell-nevus-syndrome-patients
#4
Kazuma Noguchi, Keiko Wakai, Tohru Kiyono, Mutsuki Kawabe, Kyohei Yoshikawa, Tomoko Hashimoto-Tamaoki, Hiromitsu Kishimoto, Yoshiro Nakano
Keratocystic odontogenic tumor (KCOT) is a benign tumor often associated with basal cell nevus syndrome (BCNS). Mutations in Patched 1 (PTCH1), the Hedgehog (Hh) receptor, are responsible for BCNS. BCNS is distinguished by morphological anomalies and predisposition to benign and malignant tumors, including medulloblastoma, basal cell carcinoma, KCOT and ovarian fibromas. Among these tumors, KCOT is the least well studied because a suitable model system is not available for its investigation. To enable KCOT to be studied, we established two KCOT cell lines, one from a BCNS case (designated as iKCOT1) and one from a sporadic KCOT case (designated as sKCOT1)...
October 9, 2017: International Journal of Oncology
https://www.readbyqxmd.com/read/28951717/basal-cell-nevus-syndrome-gorlin-goltz-syndrome-genetic-predisposition-clinical-picture-and-treatment
#5
Henryk Witmanowski, Paweł Szychta, Katarzyna Błochowiak, Arkadiusz Jundziłł, Rafał Czajkowski
No abstract text is available yet for this article.
August 2017: Postȩpy Dermatologii i Alergologii
https://www.readbyqxmd.com/read/28937433/a-case-of-phacomatosis-pigmentokeratotica-associated-with-multiple-basal-cell-carcinomas
#6
Seung-Hee Loh, Bark-Lynn Lew, Woo-Young Sim
Phacomatosis pigmentokeratotica is a recently identified disease characterized by the coexistence of an epidermal nevus with sebaceous differentiation arranged along Blaschko lines and a speckled lentiginous nevus showing a checkerboard pattern, mostly in association with various extracutaneous defects. A 52-year-old man presented with asymptomatic ulcerative plaque on his left side of perioral area. A 2 × 2-cm-sized fleshy colored ulceration on his left perioral area was consistent with basal cell carcinoma with nevus sebaceous...
September 13, 2017: American Journal of Dermatopathology
https://www.readbyqxmd.com/read/28686751/muckle-wells-syndrome-in-the-setting-of-basal-cell-nevus-syndrome
#7
Marie Wagener, Joseph W Laskas, Stephen Purcell, Tanya Ermolovich
Muckle-Wells syndrome (MWS) is a rare disorder inherited in an autosomal-dominant fashion that belongs to a group of hereditary periodic fever syndromes. It specifically belongs to the cryopyrin-associated periodic syndromes (CAPSs) in which there is a mutation in the NLRP3 (NLR family pyrin domain containing 3) gene that leads to overproduction of IL-1β, the source of the multisystem inflammatory symptoms. Muckle-Wells syndrome is characterized by a recurrent urticarial eruption that is associated with episodic fever, myalgia, arthralgia, malaise, progressive sensorineural hearing loss, and amyloid nephropathy (the most severe complication)...
June 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28574612/basal-cell-carcinoma-pathogenesis-and-therapy-involving-hedgehog-signaling-and-beyond
#8
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
#9
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...
August 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28425690/what-s-new-with-common-genetic-skin-disorders
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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