Basal cell nevus syndrome NGS panel | Connective Tissue Gene Tests
Basal cell nevus syndrome (BCNS; MIM 109400) also known as Gorlin syndrome, is an autosomal dominant disease characterized by basal cell tumors, palmar and plantar pits, jaw cysts and skeletal anomalies. Radiological findings include calcification of the falx cerebri, bridged sella, bifid ribs, hemivertebrae, and flame-shaped lucencies of the phalanges, metacarpal, and carpal bones of the hands. These patients can also have medulloblastoma, ovarian calcification or fibroma and cardiac fibroma. Craniofacial findings may include coarse facies, macrocephaly, hypertelorism, frontal bossing and cleft palate. BCNS can be caused by mutations in the PTCH1, PTCH2 or SUFU genes. These genes code for protein patched homolog 1, protein patched homolog 2 and suppressor of fused homolog.. The basal ...http://ctgt.net/panel/basal-cell-nevus-syndrome-ngs-panel
PPT - Basal Cell Nevus Syndrome PowerPoint Presentation - ID:688821
Basal Cell Nevus Syndrome. Daniel Berg M.D., FRCPC Director, Dermatologic Surgery University of Washington. Thank Goodness….. Shade at Last!. Basal Cell Nevus Syndrome. Autosomal Dominant 50% risk of passing on In the skin: Numerous Basal Cell Carcinomas Beginning at young age Slideshow 688821 by gundahttp://www.slideserve.com/gunda/basal-cell-nevus-syndrome
Ascend Biopharmaceuticals » Basal Cell Carcinoma Nevoid Syndrome/ Basal Cell ...
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome or Basal Cell Nevus Syndrome (BCNS), is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. It is caused by mutations in the PTCH1 gene and is transmitted as an autosomal dominant trait with complete penetrance and variable expressivity.. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ratio of 1:1.. Main clinical manifestations include multiple basal cell carcinomas (BCCs), odontogenic keratocysts of the jaws, hyperkeratosis of palms and soles, skeletal abnormalities, intracranial ectopic calcifications, and facial dysmorphism ...http://www.ascendbiopharma.com/disease-areas/basal-cell-carcinoma/
Causes of Basal Cell Nevus Syndrome | Stanford Health Care
Basal cell nevus syndrome is caused by a tumor suppressor gene called PTCH, Learn about how gene mutations can influence the development of the disease.https://stanfordhealthcare.org/medical-conditions/cancer/basal-cell-nevus-syndrome/causes.html
Nevoid Basal Cell Carcinoma Syndrome | JAMA Dermatology | The JAMA Network
• A patient with the nevoid basal cell carcinoma syndrome had been treated with radiation therapy to the hands at 5 years of age. Multiple basal cell carcinomashttps://jamanetwork.com/journals/jamadermatology/article-abstract/541430?redirect=true
Gorlin-Goltz Syndrome: Conservative Treatment of Keratocystic Odontogenic Tumors, Frequent First Clinical Manifestation in...
Objective: Gorlin-Goltz Syndrome, also known as Nevoid Basal Cell Carcinoma Syndrome, is a rare genetic condition resulting from mutations of the PTCH1 (9q22.3) gene. It ..https://www.omicsonline.org/open-access/gorlingoltz-syndrome-conservative-treatment-of-keratocysticodontogenic-tumors-frequent-first-clinical-manifestation-in-pediatricag-2161-1041-1000159.php?aid=68690
Basal Cell Nevus Syndrome | CTD
Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant ...http://ctdbase.org/detail.go?type=disease&acc=MESH%3AD001478
Mutations in the Human Homologue of the Drosophila patched Gene in Caucasian and African-American Nevoid Basal Cell Carcinoma...
The nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome, is a multisystem autosomal dominant disorder. The salient features of this syndrome include multiple basal cell carcinomas, palmar and/or plantar pits, odontogenic keratocysts, skeletal and developmental anomalies, and ectopic calcification. Other features include such tumors as ovarian fibromas and medulloblastomas. There is extensive interfamilial as well as intrafamilial variability with respect to the manifestation and severity of the phenotype. Alterations in the human homologue (PTCH) of the Drosophila segment polarity gene patched have been identified in NBCCS patients as well as tumors associated with this syndrome. We report several mutations in this gene in NBCCS patients and present the clinical ...http://cancerres.aacrjournals.org/content/56/20/4599.long
Basal cell nevus | Define Basal cell nevus at Dictionary.com
Basal cell nevus definition at Dictionary.com, a free online dictionary with pronunciation, synonyms and translation. Look it up now!http://www.dictionary.com/browse/basal-cell-nevus
New Inhibitor Prevented Lesions, Reduced Tumor Size In Basal Cell Cancer - Redorbit
A new hedgehog pathway inhibitor demonstrated efficacy in preventing and treating basal cell cancer among patients with basal cell nevus syndrome, a rare inheritable disease, according to Phase II data presented at the AACR 102nd Annual Meeting 2011, held April 2-6.. In 1996, Ervin Epstein Jr., M.D., senior scientist at Children's Hospital of Oakland Research Institute, and colleagues identified the site of the mutation that causes basal cell nevus syndrome: the PTCH gene, which encodes a primary inhibitor of the hedgehog signaling pathway. This pathway provides information for the proper development of an embryo; when the pathway malfunctions in adulthood it can produce basal ...http://www.redorbit.com/news/health/2023112/new_inhibitor_prevented_lesions_reduced_tumor_size_in_basal_cell/
Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus ...
3.The subject is from 18-75 years of age, inclusive.. 4. If the subject is female and of child-bearing potential (women are considered not of childbearing potential if they are at least 2 years post-menopausal and/or surgically sterile), she:. i. has been using adequate contraception (abstinence, IUD, birth control pills, or spermicidal gel with diaphragm or condom) since her last menses and will use adequate contraception during the study, and ii. is not lactating, and iii. has documented one negative serum pregnancy test within 14 days prior to study entry.. 5. The subject is willing to abstain from application of non-study topical medications to the skin of the face for the duration of the study, including prescription and over the counter preparations.. 6. The subject is willing not to have targeted BCCs treated by their PSCP unless the BCCs are documented by Study Investigators, preferably on two separate visits, except when the PSCP believes that delay in treatment potentially might ...https://clinicaltrials.gov/ct2/show/NCT00783965?cond=%22Nevoid+basal+cell+carcinoma+syndrome%22&rank=9
Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus ...
Explanation of how the number of participants for analysis was determined. Includes whether analysis was per protocol, intention to treat, or another method. Also provides relevant details such as imputation technique, as appropriate ...https://clinicaltrials.gov/ct2/show/results/NCT00783965
Basal Cell Nevus Syndrome : A Case Report
1976년 Brannon15)은 각화낭성 치성종양의 높은 재발률에 대하여 위성 세포의 존재, 낭종의 불완전한 적출, 주변 부위의 각화낭성 치성종양 재발을 이유로 들었다. 각화낭성 치성종양의 치료 방법에는 낭종 적출술, carnoy's solution과 함께 낭종 적출술을 시행하는 방법, 조대술, 그리고 골 절제술이 있다. 각화낭성 치성종양의 치료를 위해 Nakamura16)는 각화낭성 치성종양으로 매복된 치아가 조대술 혹은 감압술 후 정상 맹출하는 경우를 보고하였다. 또한 Pogrel17)은 조대술을 시행한 13개의 증례 보고를 통해 각화낭성 치성종양이 임상적, 방사선학적으로 없어졌음을 보고하였으며 조대술 시행시, interleukin-1a와 세포 증식 등이 억제되면서 각화낭성 치성종양의 침습적인 성향이 감소됨이 보고된 바 있다18). 그러나 조대술 시행시 두 번의 수술이 필요할 수 있으며 낭종 ...http://journal.kapd.org/journal/view.php?number=1379
Basal cell nevus syndrome - face and hand | University of Maryland Medical Center
Platybasia - Wikipedia
Platybasia is a spinal disease of a malformed relationship between the occipital bone and cervical spine. It may be caused by Paget's disease. Platybasia is also a feature of Gorlin-Goltz syndrome, commonly known as basal cell nevus syndrome.. ...https://en.wikipedia.org/wiki/Platybasia
i) Medulloblastoma - OzRadOnc
The aetiology of medulloblastoma is not fully understood. Some clue towards the required genetic mutations comes from its association with Basal Cell Naevus Syndrome (Gorlin) syndrome (PTCH1 deficiency). BCNS is associated with mutations of PTCH1, a member of the sonic hedgehog signal transduction pathway. PTCH1, when active, prevents activity of SMO (smoothened), which promotes cellular proliferation and survival through its downstream effects. BCNS patients have an elevated risk of medulloblastoma (about 5%); mutations in PTCH1 and other members of the sonic hedgehog pathway are present in 10-15% of sporadic medulloblastomas. Other identified genes include Wingless, Notch2, and the ERBB2 signal transduction pathway.. ...http://ozradonc.wikidot.com/pathology:paed-medulloblastoma
Bilateral odontogenic keratocyst of the mandible. - Semantic Scholar
Odontogenic keratocyst (OKC) is a cyst of dental origin with an aggressive clinical behavior, having high recurrence rate. Multiple cysts are associated with bifid-rib basal cell nevus syndrome (Gorlin syndrome). We present a case of bilateral odontogenic keratocyst in a cleft lip patient.https://www.semanticscholar.org/paper/Bilateral-odontogenic-keratocyst-of-the-mandible-Ram-Mohammad/0c858e85bc67ea025828b216d08738b5038f98c6
Altered Neural Cell Fates and Medulloblastoma in Mouse patched Mutants | Science
The PATCHED (PTC) gene encodes a Sonic hedgehog (Shh) receptor and a tumor suppressor protein that is defective in basal cell nevus syndrome (BCNS). Functions ofPTC were investigated by inactivating the mouse gene. Mice homozygous for the ptc mutation died during embryogenesis and were found to have open and overgrown neural tubes. Two Shh target genes, ptc itself and Gli, were derepressed in the ectoderm and mesoderm but not in the endoderm. Shh targets that are, under normal conditions, transcribed ventrally were aberrantly expressed in dorsal and lateral neural tube cells. Thus Ptc appears to be essential for repression of genes that are locally activated by Shh. Mice heterozygous for the ptc mutation were larger than normal, and a subset of them developed hindlimb defects or cerebellar medulloblastomas, abnormalities also seen in BCNS patients. ...http://science.sciencemag.org/content/277/5329/1109.long
basal cell carcinoma of eyelid disorder 2005:2010[pubdate] *count=100 - BioMedLib™ search engine
It is important for the ophthalmologist and pathologist to be aware of infundibulocystic basal cell carcinomas, as they are more common in patients with basal cell nevus syndrome and may be a clue to the diagnosis of this autosomal dominant cancer-predisposition syndrome or other associated syndromes ...http://www.bmlsearch.com/?kwr=basal+cell+carcinoma+of+eyelid+disorder+2005:2010%5Bpubdate%5D&cxts=100&stmp=b0
SUFU - Wikipedia
Suppressor of fused homolog is a protein that in humans is encoded by the SUFU gene. SUFU encodes a component of the sonic hedgehog (SHH) / patched (PTCH) signaling pathway. Mutations in genes encoding components of this pathway are deleterious for normal development and are associated with cancer-predisposing syndromes (e.g., holoprosencephaly, HPE3; basal cell nevus syndrome, BCNS; and Greig cephalopolysyndactyly syndrome; GCPS). SUFU has been shown to interact with GLI1, GLI3 and PEX26. GRCh38: Ensembl release 89: ENSG00000107882 - Ensembl, May 2017 GRCm38: Ensembl release 89: ENSMUSG00000025231 - Ensembl, May 2017 "Human PubMed Reference:". "Mouse PubMed Reference:". Merchant M, Vajdos FF, Ultsch M, Maun HR, Wendt U, Cannon J, Desmarais W, Lazarus RA, de Vos AM, de Sauvage FJ (Sep 2004). "Suppressor of fused regulates Gli activity through a dual binding mechanism". Mol ...https://en.wikipedia.org/wiki/SUFU
Isotretinoin in Preventing Skin Cancer - Full Text View - ClinicalTrials.gov
DISEASE CHARACTERISTICS: Diagnosis of autosomal recessive disorder xeroderma pigmentosum Diagnosis must be documented by the clinical signs and symptoms listed in standard text books, e.g.: Sun sensitivity Increased number of freckles and other pigmentary lesions Cutaneous atrophy and telangiectasia Actinic keratoses Skin cancers Ocular abnormalities (e.g., photophobia, conjunctivitis, keratitis, or premalignant or malignant tumors of the eye or lid) allowed Neurologic abnormalities (e.g., progressive hearing loss, diminished reflexes, or progressive mental deterioration) allowed OR Diagnosis of autosomal dominant nevoid basal cell carcinoma syndrome Diagnosis must be documented by the clinical signs and symptoms listed in standard text books, e.g.: Basal cell carcinomas Palmar pits Skeletal abnormalities Falx calcification ...https://clinicaltrials.gov/ct2/show/NCT00025012?cond=%22Nevoid+basal+cell+carcinoma+syndrome%22&rank=11
Nevoid amentia legal definition of nevoid amentia
Definition of nevoid amentia in the Legal Dictionary - by Free online English dictionary and encyclopedia. What is nevoid amentia? Meaning of nevoid amentia as a legal term. What does nevoid amentia mean in law?https://legal-dictionary.thefreedictionary.com/nevoid+amentia
Molecular evidence of type 2 mosaicism in Gorlin syndrome - Torrelo - 2013 - British Journal of Dermatology - Wiley Online...
We present a 12-year-old girl with a family history of Gorlin syndrome who had unilateral, segmentally arranged basaloid skin tumours present since birth, ipsilateral, palmoplantar pits of rather large size distributed along Blaschko lines, and an ipsilateral odontogenic keratocyst. The patient and her father were heterozygous for a germline mutation in the form of a single-base substitution in exon 18 of the PTCH1 gene. In the patient's lesional skin, a microdeletion in exon 3 of PTCH1 was detected, giving rise to a truncated protein. This additional mutation was ruled out in the contralateral skin and in blood lymphocytes, thus confirming its mosaic state. In this way we provide for the first time molecular proof of a type 2 segmental involvement of this autosomal dominant trait. ...http://onlinelibrary.wiley.com/doi/10.1111/bjd.12458/full
Proteomes | Free Full-Text | ALDH1A1 Deficiency in Gorlin Syndrome Suggests a Central Role for Retinoic Acid and ATM Deficits...
We hypothesize that aldehyde dehydrogenase 1A1 (ALDH1A1) deficiency will result in impaired ataxia-telangiectasia mutated (ATM) activation in a retinoic acid-sensitive fashion. Data supporting this hypothesis include (1) reduced ATM activation in irradiated primary dermal fibroblasts from ALDH1A1-deficient Gorlin syndrome patients (GDFs), relative to ALDH1A1-positive normal human dermal fibroblasts (NHDFs) and (2) increased ATM activation by X-radiation in GDFs pretreated with retinoic acid, however, the impact of donor variability on ATM activation in fibroblasts was not assessed and is a prudent consideration in future studies. Clonogenic survival of irradiated cells showed differential responses to retinoic acid as a function of treatment time. Long-term (5 Day) retinoic acid treatment functioned as a radiosensitizer and was associated with downregulation of ATM protein levels. Short-term (7 h) retinoic acid treatment showed a trend toward increased ...http://www.mdpi.com/2227-7382/2/3/451
Translation to Practice: A Randomised, Controlled Study of an Evidence-Based Booklet for Breast-Care Nurses in the United...
Background: In the United Kingdom (UK), it was documented that a problem of knowledge transfer existed within the speciality of breast-cancer care, thus depriving patients of receiving optimal care. Despite increasingly robust research evidence indicating recommendation of whole body exercise for people affected by breast cancer, commensurate changes to practice were not noted amongst breast-care nurses (BCNs).. Aim: To evaluate the effect of a targeted booklet, Exercise and Breast Cancer: A Booklet for Breast-Care Nurses, on changes in knowledge, reported practice, and attitudes of BCNs in the UK.. Method: A prospective, experimental approach was used for designing a pre- and post-test randomised controlled study. Comparisons of knowledge, reported practice, and attitudes based on responses to a questionnaire were made at two time-points in two groups of BCNs (control and experimental). The unit of randomisation and analysis was hospital clusters of BCNs. The sample comprised 92 nurses from 62 ...http://eprints.hud.ac.uk/id/eprint/5847/