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https://www.readbyqxmd.com/read/29706825/medulloblastoma-in-a-toddler-with-gorlin-syndrome
#1
Mohamad G Al-Rahawan, Sorleen Trevino, Roy Jacob, Jeffrey C Murray, Mohamad M Al-Rahawan
Gorlin syndrome (GS) is a rare hereditary multisystem disorder caused by mutations in PTCH1, PTCH2 , or SUFU . It is characterized by multiple anomalies and an increased risk of developing various tumors. Basal cell carcinoma is most common, and medulloblastoma (MB) is especially frequent in patients with SUFU mutations. MB treatment often includes radiation therapy in patients older than 3 years; however, such treatment is very toxic to patients with GS. Most reported cases of MB in patients with GS present after GS is diagnosed...
April 2018: Proceedings of the Baylor University Medical Center
https://www.readbyqxmd.com/read/29621081/odontogenic-keratocysts-as-first-manifestation-of-nevoid-basal-cell-carcinoma-syndrome-surgical-management-and-immunohistochemical-analysis
#2
Jessica Luana Dos Santos, Renata Zoraida Rizental Delgado, Greison Rabelo de Oliveira, Ana Lúcia Carrinho Ayroza Rangel
Nevoid Basal Cell Carcinoma Syndrome (NBCCS), also known as Gorlin syndrome, is a rare autosomal dominant disorder, with no gender predilection. Individuals with NBCCS are commonly diagnosed between 17 and 35 years old and can present multiple basal cell carcinomas scattered throughout the body, presence of recurrent and early-onset odontogenic keratocysts (OKCs) and skeletal abnormalities. This article describes a case of a 13-year-old white boy who referred complaining of facial asymmetry. Extraoral examination revealed volumetric increase displacing the nasal ala from the right side and extended to the zygomatic bone...
April 4, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29603722/effective-anti-pd-1-therapy-in-a-sufu-mutated-patient-with-gorlin-goltz-syndrome
#3
A Moreira, M C Kirchberger, F Toussaint, M Erdmann, G Schuler, L Heinzerling
We present a case of a 77-year-old male patient with more than 50 basal cell carcinomas on the head and upper trunk. The patient did not respond to several lines of treatment, including surgery, imiquimod, retinoids, itraconazole and therapy with the hedgehog inhibitor vismodegib. The patient responded well to an off-label therapy with the anti-PD-1 antibody pembrolizumab after 4 infusions. This article is protected by copyright. All rights reserved.
March 30, 2018: British Journal of Dermatology
https://www.readbyqxmd.com/read/29544218/a-novel-ptch1-frameshift-mutation-leading-to-nevoid-basal-cell-carcinoma-syndrome
#4
Ceren D Durmaz, Gareth Evans, Miriam J Smith, Pelin Ertop, Bengü N Akay, Timur Tuncalı
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a rare multisystemic autosomal dominant disorder typically presenting with cutaneous basal cell carcinomas, multiple keratocysts, and skeletal anomalies. NBCCS is caused by heterozygous mutations in the PTCH1 gene in chromosome 9q22, in the PTCH2 gene in 1p34, or the SUFU gene in 10q24.32. Here, we report on an 18-month-old boy presenting with medulloblastoma, frontal bossing, and multiple skeletal anomalies and his father who has basal cell carcinomas, palmar pits, macrocephaly, bifid ribs, calcification of falx cerebri, and a history of surgery for odontogenic keratocyst...
March 16, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29525789/a-novel-porcn-frameshift-mutation-leading-to-focal-dermal-hypoplasia-a-case-report
#5
Ceren D Durmaz, John McGrath, Lu Liu, Halil G Karabulut
Focal dermal hypoplasia (FDH), also known as Goltz-Gorlin syndrome, is a rare, multisystemic, X-linked dominant genodermatosis characterized by defective development of mesodermal and ectodermal tissues. Major clinical features of the disorder are skin manifestations, skeletal defects, and developmental eye abnormalities. FDH is caused by heterozygous mutations in the PORCN gene located at Xp11.23, and 90% of individuals with FDH are females. Here, we report a female patient with cutaneous changes, multiple eye anomalies, short stature, and ectrodactyly of the right foot...
March 10, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29521748/delayed-diagnosis-of-gorlin-goltz-syndrome-the-importance-of-the-multidisciplinary-approach
#6
Jéssica Araújo Figueira, Fábio Roberto de Souza Batista, Karina Rosso, Vanessa Cristina Veltrini, Angelo José Pavan
Gorlin-Goltz syndrome (GGS), also known as nevoid basal cell carcinoma syndrome, is an autosomal dominant inherited disorder with high penetrance and variable expressivity. The classic triad originally described by Gorlin and Goltz in 1960 is composed of multiple nevoid basal cell carcinomas (NBCCs), odontogenic keratocysts (OKCs) in the jaws and bifid ribs. in 1977, this triad was modified by Rayner et al, and to GGS diagnosis, the OKCs had to appear in combination with calcification of the cerebellar falx or palmar and plantar pits...
March 8, 2018: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/29498494/potential-hot-spot-for-de-novo-mutations-in-ptch1-gene-in-gorlin-syndrome-patients-a-case-report-of-twins-from-croatia
#7
Vesna Musani, Petar Ozretić, Diana Trnski, Maja Sabol, Sanja Poduje, Mateja Tošić, Mirna Šitum, Sonja Levanat
We describe a case of twins with sporadic Gorlin syndrome. Both twins had common Gorlin syndrome features including calcification of the falx cerebri, multiple jaw keratocysts, and multiple basal cell carcinomas, but with different expressivity. One brother also had benign testicular mesothelioma. We propose this tumor type as a possible new feature of Gorlin syndrome. Gorlin syndrome is a rare autosomal dominant disorder characterized by both developmental abnormalities and cancer predisposition, with variable expression of various developmental abnormalities and different types of tumors...
February 28, 2018: Croatian Medical Journal
https://www.readbyqxmd.com/read/29478614/brain-cancer-genomics-and-epigenomics
#8
Tenley C Archer, Soma Sengupta, Scott L Pomeroy
Classically, brain cancers have been graded and diagnosed based on histology and risk stratified by clinical criteria. Recent advances in genomics and epigenomics have ushered in an era of defining cancers based on molecular criteria. These advances have increased our precision of identifying oncogenic driving events and, most importantly, increased our precision at predicting clinical outcome. For the first time in its history, the 2016 revision of the WHO Classification of Tumors of the Central Nervous System included molecular features as tumor classification criteria...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29471147/blue-light-versus-red-light-for-photodynamic-therapy-of-basal-cell-carcinoma-in-patients-with-gorlin-syndrome-a-bilaterally-controlled-comparison-study
#9
Edward V Maytin, Urvashi Kaw, Muneeb Ilyas, Judith A Mack, Bo Hu
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...
February 19, 2018: Photodiagnosis and Photodynamic Therapy
https://www.readbyqxmd.com/read/29462221/vismodegib-use-in-clinical-practice-analysis-of-a-united-states-medical-claims-database
#10
C William Hanke, Shivani K Mhatre, David Oliveri, Marko Zivkovic, Ivor Caro, Daniel Bergström, Keith Dawson, Camelia S Sima
BACKGROUND: Information is limited on the use of vismodegib for treatment of advanced basal cell carcinoma beyond the setting of clinical trials. OBJECTIVE: To investigate the treatment patterns and characteristics of patients treated with vismodegib in clinical practice. METHODS: A longitudinal, retrospective cohort study was undertaken using data from a US commercial insurance claims (Truven Health Analytics MarketScan) database. Eligible patients were ≥18 years of age, with ≥1 claim for vismodegib from January 2012 to December 2015...
February 1, 2018: Journal of Drugs in Dermatology: JDD
https://www.readbyqxmd.com/read/29454489/basal-cell-nevus-syndrome-gorlin-syndrome-genetic-insights-diagnostic-challenges-and-unmet-milestones
#11
Maryam Akbari, Harold Chen, Grace Guo, Zachary Legan, Ghali Ghali
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...
January 31, 2018: Pathophysiology: the Official Journal of the International Society for Pathophysiology
https://www.readbyqxmd.com/read/29445579/patient-with-confirmed-leopard-syndrome-developing-multiple-melanoma
#12
Caroline Colmant, Deborah Franck, Liliane Marot, Gert Matthijs, Yves Sznajer, Sandrine Blomme, Isabelle Tromme
LEOPARD syndrome, also known as Gorlin syndrome II, cardiocutaneous syndrome, lentiginosis profusa syndrome, Moynahan syndrome, was more recently coined as Noonan syndrome with multiple lentigines (NSML), inside the RASopathies. Historically, the acronym LEOPARD refers to the presence of distinctive clinical features such as: lentigines (L), electrocardiographic/conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), genital abnormalities (A), retardation of growth (R), and sensorineural deafness (D)...
January 2018: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/29383603/goltz-gorlin-syndrome-revisiting-the-clinical-spectrum
#13
Dhanya Yesodharan, Uta Meyer Zum Büschenfelde, Kerstin Kutsche, K Mohandas Nair, Sheela Nampoothiri
OBJECTIVE: To describe the varying phenotypic spectrum of Focal Dermal Hypoplasia (FDH) and to emphasize the need for identifying the condition in mildly affected females which is crucial for offering a prenatal diagnosis in subsequent pregnancy owing to the risk of having a severely affected baby. METHODS: The phenotype-genotype correlation of 4 patients with FDH, over a period of 11 y from the genetic clinic in a tertiary care centre from Kerala, India was done...
January 31, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29373110/gorlin-syndrome
#14
I Palacios-Álvarez, R González-Sarmiento, E Fernández-López
Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the sonic hedgehog signaling pathway. Of particular importance is the PTCH1 gene. The disease is characterized by the development of multiple basal cell carcinomas at young ages. These tumors may present with other skin manifestations such as palmoplantar pits and with extracutaneous manifestations such as odontogenic keratocysts and medulloblastoma. Although the dermatologist may be key for recognizing clinical suspicion of the syndrome, a multidisciplinary team is usually necessary for diagnosis, treatment, and follow-up...
April 2018: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/29364426/-nevoid-basal-cell-carcinoma-syndrome-gorlin-syndrome-report-of-two-cases-and-review-of-the-literature
#15
María Del Carmen Castro-Mujica, Claudia Barletta-Carrillo, Julio A Poterico, Marisa Acosta, Jesús Valer, Miguel De La Cruz
Gorlin syndrome (GS) is a genetic disorder with an autosomal dominant inheritance pattern, with complete penetrance and variable expressivity. GS is caused by germline mutations in the genes PTCH1 or SUFU, which are components of the Sonic hedgehog molecular pathway. GS is characterized by the presence of multiple nevoid basal cell carcinomas, odontogenic cysts, calcification of the brain sickle, and lesions in the palms and soles. This study is the first to report cases in Peru of patients with GS who underwent genetic evaluation and counseling...
October 2017: Revista Peruana de Medicina Experimental y Salud Pública
https://www.readbyqxmd.com/read/29356994/mutations-in-sufu-and-ptch1-genes-may-cause-different-cutaneous-cancer-predisposition-syndromes-similar-but-not-the-same
#16
A J Huq, M Walsh, B Rajagopalan, M Finlay, A H Trainer, F Bonnet, N Sevenet, I M Winship
Many cancer predisposition syndromes are preceded or accompanied by a range of typical skin signs. Gorlin syndrome is a rare multisystem inherited disorder which can predispose to basal cell carcinomas (BCCs), childhood medulloblastomas in addition to various developmental abnormalities; the majority of cases are due to mutations in the PTCH1 gene. Approximately 5% of cases have been attributed to a mutation in the SUFU gene. Certain phenotypic features have been identified as being more prevalent in individuals with a SUFU mutation such as childhood medulloblastoma, infundibulocystic BCCs and trichoepitheliomas...
January 22, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29351118/multiple-eyelid-cysts-apocrine-and-eccrine-hidrocystomas-trichilemmal-cyst-and-hybrid-cyst-in-a-patient-with-a-prolactinoma
#17
Lina Ma, Frederick A Jakobiec, Natalie Wolkow, Thaddeus P Dryja, Gary E Borodic
A 53-year-old man presented with smooth-domed, variegated cysts (polycystic disease) of all 4 eyelids, worse on the left side. Some of the cysts were clear, while others were creamy-white colored. In addition, multiple, very fine vesicopapules were noted along the eyelid margins. Histopathologic examination revealed a trichilemmal cyst, several pure apocrine hidrocystomas displaying multiple chambers, a hybrid cyst, and many small eccrine cysts of the deep dermis. The apocrine lesions, including the small ones at the eyelid margins, predominated...
January 18, 2018: Ophthalmic Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/29334213/conservative-management-of-ovarian-fibroma-in-a-case-of-gorlin-goltz-syndrome-comorbid-with-endometriosis
#18
Sepideh Khodaverdi, Leila Nazari, Abolfazl Mehdizadeh-Kashi, Mansoureh Vahdat, Samaneh Rokhgireh, Ali Farbod, Banafsheh Tajbakhsh
Ovarian fibromas are the most common benign solid ovarian tumors, which are often difficult to diagnose preoperatively. Ovarian fibromas, especially in bilateral cases, may be cases of Gorlin-Goltz syndrome (GGS), a rare autosomal dominant disorder with predisposition to basal cell carcinomas (BCCs) and other various benign and malignant tumors. This case report describes a 25 year-old female with GGS, bilateral ovarian fibroma, endometriosis and septated uterus, which was referred to the Gynecology Clinic of Rasoul-e-Akram Hospital in October 2016...
April 2018: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/29287708/intratarsal-keratinous-eyelid-cysts-in-gorlin-syndrome-a-review-and-reappraisal
#19
REVIEW
Natalie Wolkow, Frederick A Jakobiec, Michael K Yoon
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...
December 27, 2017: Survey of Ophthalmology
https://www.readbyqxmd.com/read/29274272/the-role-of-the-hedgehog-signaling-pathway-in-cancer-a-comprehensive-review
#20
REVIEW
Ana Marija Skoda, Dora Simovic, Valentina Karin, Vedran Kardum, Semir Vranic, Ljiljana Serman
The Hedgehog (Hh) signaling pathway was first identified in the common fruit fly. It is a highly conserved evolutionary pathway of signal transmission from the cell membrane to the nucleus. The Hh signaling pathway plays an important role in the embryonic development. It exerts its biological effects through a signaling cascade that culminates in a change of balance between activator and repressor forms of glioma-associated oncogene (Gli) transcription factors. The components of the Hh signaling pathway involved in the signaling transfer to the Gli transcription factors include Hedgehog ligands (Sonic Hh [SHh], Indian Hh [IHh], and Desert Hh [DHh]), Patched receptor (Ptch1, Ptch2), Smoothened receptor (Smo), Suppressor of fused homolog (Sufu), kinesin protein Kif7, protein kinase A (PKA), and cyclic adenosine monophosphate (cAMP)...
February 20, 2018: Bosnian Journal of Basic Medical Sciences
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