Psychological Impact Of Multiple Cancer Surgeries For Gorlin Syndrome Patients Highlighted By New Patient Group Research

The Gorlin Syndrome Group, campaigning to help people with a rare genetic skin cancer, today launched new research highlighting the significant impact of multiple surgeries on patients' wellbeing. The survey, presented today at the European Association of Dermato Oncology (EADO) Congress, revealed that almost half (48%) of patients endure more than 20 surgical procedures although only 15% are offered counselling throughout diagnosis and treatment...
Source: Health News from Medical News Today - Category: Consumer Health News Tags: Cancer / Oncology Source Type: news

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In conclusion, we have shown the safety and efficacy of Vemurafenib in a pediatric patient with DS affected by PXA. Ethics Statement This study was carried out in accordance with the recommendations of the Internal Review Board of the Bambino Gesù Children's Hospital with written informed consent from all subjects. All subjects gave written informed consent in accordance with the Declaration of Helsinki. The protocol was approved by the Internal Review Board of the Bambino Gesù Children's Hospital. Informed Consent The authors declare that written informed consent was obtained from the pat...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
Abstract Skin cancer has become the most common type of cancer worldwide as a result of environmental exposure and medical treatments. A small group of patients are genetically predisposed to skin cancer and this article is intended as a diagnostic tool when encountering patients with multiple skin cancer lesions. The disorders are described with clinical characteristics, genetics and management. The most common syndromes associated with basal cell carcinoma are: Gorlin-Goltz syndrome, Rombo syndrome, and Bazex-Dupré-Christol syndrome. Multiple squamous cell carcinomas can be related to: xeroderma pigmentos...
Source: Acta Dermato-Venereologica - Category: Dermatology Authors: Tags: Acta Derm Venereol Source Type: research
On the cusp of taking its drug into a late-stage clinical trial for a rare genetic skin condition, a small San Francisco drug developer scored a potential $760 million deal with Danish drug maker Leo Pharma A/S. The pact, including an initial $70 million in equity and research-and-development support, gives PellePharm Inc. enough money to complete the Phase III study in people with Gorlin Syndrome. That skin condition today, while not a health threat, can lead to as many as 30 procedures a year…
Source: Health Care:Pharmaceuticals headlines - Category: Pharmaceuticals Authors: Source Type: news
ConclusionOverall, 89% of our NCI families had a pathogenicPTCH1 mutation. The identification ofPTCH1 mutations in previously mutation ‐negative families underscores the importance of repeated testing when new technologies become available. Additional clinical information linked to mutation databases would enhance follow‐up and future studies of genotype–phenotype relationships.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: ORIGINAL ARTICLE Source Type: research
We describe a 68-year-old female who presented to the dermatology office with a previous history of over 30 BCCs that had been previously biopsied and/or surgically removed. However, the patient had been lost to follow up for several years and had not been seen by a skin specialist. In the interim, she had been misdiagnosed as having eczematous or psoriatic lesions by primary care providers. Patients with Gorlin syndrome are even harder to diagnose as their skin cancers often do not possess the classic features associated with a basal cell or squamous cell carcinoma. When in doubt, and especially if failing topical therapy...
Source: J Pharm Pharm Sci - Category: Drugs & Pharmacology Authors: Tags: J Pharm Pharm Sci Source Type: research
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. It may occur that although GGS syndrome is a well-known condition, only the specifi...
Source: Journal of Craniofacial Surgery - Category: Surgery Tags: Brief Clinical Studies Source Type: research
We report a case of a 6-year-old female presenting with ventricular tachycardia secondary to cardiac fibroma. After diagnosis of recurrent jaw keratocysts, she was clinically and molecularly diagnosed with NBCCS. Identification of a cardiac fibroma should prompt careful assessment of past medical and family history with consideration of a diagnosis of NBCCS.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research
As many as 30 tumors a year appear on the face and sun-exposed areas of the body of Gorlin Syndrome patients. But this Peninsula company expects to take a drug for the condition into a late-stage study this summer.
Source: Health Care:Pharmaceuticals headlines - Category: Pharmaceuticals Authors: Source Type: news
Authors: Skoda AM, Simovic D, Karin V, Kardum V, Vranic S, Serman L Abstract 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 t...
Source: Bosnian Journal of Basic Medical Sciences - Category: General Medicine Tags: Bosn J Basic Med Sci Source Type: research
Basal cell carcinoma (BCC) is the most common type of skin cancer worldwide [1 –4]. In the United States, BCC is diagnosed in> 2 million patients annually, and global incidence rates continue to rise [1,5,6]. Risk factors for the development of BCC include fair skin type, exposure to ultraviolet radiation, age, history of BCC, genetic disorders (eg, Gorlin syndrome, xeroderma pigmentosum), and immunosuppression [1,2,4,7]. BCC tumors are generally slow growing and rarely metastasize, and the prognosis for patients who receive appropriate therapy is typically very good [1 –3].
Source: Cancer Treatment Reviews - Category: Cancer & Oncology Authors: Tags: Anti-Tumour Treatment Source Type: research
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