US-based, clinical stage biopharmaceutical company HedgePath (HPPI) has reported positive interim data from its Phase IIb clinical trial of SUBA-Itraconazole to treat basal cell carcinoma nevus syndrome (BCCNS), also known as Gorlin Syndrome.

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AbstractThe latest (4th) edition of the World Health Organization (WHO) Classification of Head and Neck Tumours, published in January 2017, has reclassified keratocystic odontogenic tumour as odontogenic keratocyst. Therefore, odontogenic keratocysts (OKCs) are now considered benign cysts of odontogenic origin that account for about 10% of all odontogenic cysts. OKCs arise from the dental lamina and are characterised by a cystic space containing desquamated keratin with a uniform lining of parakeratinised squamous epithelium. The reported age distribution of OKCs is considerably wide, with a peak of incidence in the third …

AbstractVismodegib (Erivedge®) is the first-in-class, oral small molecule inhibitor of the Hedgehog (Hh) pathway, abnormal activation of which is associated with basal cell carcinoma (BCC). In the USA, vismodegib is indicated for the treatment of adults with metastatic BCC (mBCC) or with locally-advanced BCC (LaBCC) that has recurred following surgery or who are not candidates for surgery, and who are not candidates for radiation. Similarly, in the EU, vismodegib is indicated for the treatment of adult patients with symptomatic mBCC, or with laBCC inappropriate for surgery or radiotherapy. The full European approval of…

Source: DrugsCategory: Drugs & Pharmacology Source Type: research

Publication date: June 2018Source: Pathophysiology, Volume 25, Issue 2Author(s): Maryam Akbari, Harold Chen, Grace Guo, Zachary Legan, Ghali GhaliAbstractIn 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 c…

Source: PathophysiologyCategory: Pathology Source Type: research

This report describes an additional clinical manifestation of an intraosseous mandibular lipoma, which has not been previously described in cases of FDH. Intraosseous lipomas in the head and neck region are reported in only seventeen cases in isolation of any associated syndrome.Diagnosis was hindered due to similitude with Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome) which despite similar nomenclature, is an exclusively separate conditionThis novel finding encourages clinicians to consider unusual differential diagnoses in such cases and highlights the importance of avoiding eponyms to prevent confusion wi…

Publication date: June 2018Source: Pathophysiology, Volume 25, Issue 2Author(s): Maryam Akbari, Harold Chen, Grace Guo, Zachary Legan, Ghali GhaliAbstractIn 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 c…

Source: PathophysiologyCategory: Pathology Source Type: research

This report describes an additional clinical manifestation of an intraosseous mandibular lipoma, which has not been previously described in cases of FDH. Intraosseous lipomas in the head and neck region are reported in only seventeen cases in isolation of any associated syndrome.Diagnosis was hindered due to similitude with Nevoid Basal Cell Carcinoma Syndrome (Gorlin-Goltz Syndrome) which despite similar nomenclature, is an exclusively separate conditionThis novel finding encourages clinicians to consider unusual differential diagnoses in such cases and highlights the importance of avoiding eponyms to prevent confusion wi…

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

Pediatric Dermatology, EarlyView.

Source: Pediatric DermatologyCategory: Dermatology Authors:

This article provides a comprehensive approach for the evaluation of children with masses or mass-like lesions of developmental and genetic origin affecting the craniofacial skeleton. Typical findings are illustrated and the respective roles of computed tomography (CT), cone beam CT (CBCT), magnetic resonance imaging (MRI) with diffusion-weighted imaging (DWI) sequences and ultrasonography (US) are discussed for the pre-therapeutic assessment, complex treatment planning and post-treatment surveillance. Key imaging findings and characteristic clinical manifestations are reviewed. Pitfalls of image interpretation are address…

The purpose of this study was to report clinical characteristics, surgical results, and new PTCH1 gene mutations in nevoid basal cell carcinoma syndrome (NBCCS). Five patients were referred to the Department of Oral and Maxillofacial Surgery from local dental clinics between 2006 and 2016 to treat multiple keratocystic odontogenic tumors (KOTs). The cystic lesions were enucleated and peripheral ostectomy was performed to obtain safety margin. Recurrence and/or de novo development of KOT were assessed. Gene analysis using peripheral blood was performed in all patients to identify the mutation of PTCH1 gene. Three patients s…





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