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Iatrogenic Vitamin D Deficiency in a Patient with Gorlin Syndrome: The Conundrum of Photoprotection.
Abstract
Abstract is missing (Short).
PMID: 24202285 [PubMed - as supplied by publisher]
Source: Acta Dermato-Venereologica - November 6, 2013 Category: Dermatology Authors: Gentzsch S, Kern JS, Loeckermann S, Geissler E, Seufert J, Bernard C, Kohlhase J, Bruckner-Tuderman L, Meiss F Tags: Acta Derm Venereol Source Type: research
Genetics Home Reference: Meier-Gorlin syndrome
http://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome
Source: NLM General Announcements - February 11, 2014 Category: Databases & Libraries Source Type: news
Early‐onset acral basal cell carcinomas in Gorlin syndrome
This article is protected by copyright. All rights reserved.
Source: British Journal of Dermatology - May 16, 2014 Category: Dermatology Authors: A. Torrelo, A. Vicente, L. Navarro, M. Planaguma, E. Bueno, R. González‐Sarmiento, A. Hernández‐Martín, L. Noguera‐Morel, L. Requena, I. Colmenero, A. Parareda, M.A. González‐Enseñat, R. Haple Tags: Case Report Source Type: research
Gorlin Syndrome
A 16-year-old female with a history of removal of multiple “jaw cysts” and multiple basal cell carcinomas, was subsequently diagnosed with Gorlin syndrome. Computed tomography (CT) of the pelvis revealed bilateral adnexal calcified solid lesions. On further evaluation with magnetic resonance (MR) imaging, these lesions demonstrated low signal intensity on T2-weighted images with enhancement, consistent with ovarian fibromas ().
Source: The Journal of Pediatrics - March 5, 2014 Category: Pediatrics Authors: Achint K. Singh, Alejandro Lopez-Araujo, Venkata S. Katabathina Tags: Insights and Images Source Type: research
Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome
& D Gareth Evans
Source: European Journal of Human Genetics - August 27, 2014 Category: Genetics & Stem Cells Authors: Binnaz YasarHelen J ByersMiriam J SmithJohn LearDeemesh OuditZaynab BholahStephen A RobertsWilliam G NewmanD Gareth Evans Source Type: research
A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients
Condition: Treatment for Basal Cell Carcinomas (BCCs) in Gorlin Syndrome PatientsInterventions: Drug: Placebo; Drug: LDE225; Drug: LDE225 0.25%; Drug: LDE225 0.75%Sponsors: Novartis Pharmaceuticals; NovartisCompleted - verified October 2014
Source: ClinicalTrials.gov - August 18, 2009 Category: Research Source Type: clinical trials
Strabismus resulting from an anomalous extraocular muscle in Gorlin syndrome
We present a case of strabismus caused by an anomalous orbital structure that was histopathologically consistent with an accessory extraocular muscle rather than a fibrous band, in a patient with Gorlin syndrome (nevoid basal cell carcinoma syndrome), an autosomal dominant multisystem disorder related to a mutation in the patched tumor suppressor gene (PTCH). Histopathology of an anomalous orbital structure consistent with extraocular muscle has not been previously reported.
Source: Journal of AAPOS - September 27, 2014 Category: Opthalmology Authors: Peter B. Knowlton, Louise A. Mawn, James B. Atkinson, Sean P. Donahue Tags: Short Report Source Type: research
A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients
Condition: Treatment for Basal Cell Carcinomas (BCCs) in Gorlin Syndrome PatientsInterventions: Drug: Placebo; Drug: LDE225; Drug: LDE225 0.25%; Drug: LDE225 0.75%Sponsors: Novartis Pharmaceuticals; NovartisCompleted - verified October 2014
Source: ClinicalTrials.gov - August 18, 2009 Category: Research Source Type: clinical trials
Meier-Gorlin syndrome: Report of an additional patient with congenital heart disease
We report a 7year old female child with the classical triad of Meier-Gorlin syndrome (MGS), (microtia, absent patella and short stature). She had the characteristic facial features, with normal mentality and defective speech, skeletal abnormalities, conductive hearing loss, cystitis and normal growth hormone level. She suffered from recurrent chest infection during the first year of life which improved gradually with age. Although congenital heart is rarely observed in MGS, our patient had in addition fenestrated interatrial septal defect.
Source: Egyptian Journal of Medical Human Genetics - October 12, 2014 Category: Genetics & Stem Cells Source Type: research
A Trial to Evaluate the Safety, Local Tolerability, Pharmacokinetics and Pharmacodynamics of LDE225 on Skin Basal Cell Carcinomas in Gorlin Syndrome Patients
Condition: Treatment for Basal Cell Carcinomas (BCCs) in Gorlin Syndrome PatientsInterventions: Drug: Placebo; Drug: LDE225; Drug: LDE225 0.25%; Drug: LDE225 0.75%Sponsors: Novartis Pharmaceuticals; NovartisCompleted - verified October 2014
Source: ClinicalTrials.gov - August 18, 2009 Category: Research Source Type: clinical trials
Strabismus resulting from an anomalous extraocular muscle in Gorlin syndrome
We present a case of strabismus caused by an anomalous orbital structure that was histopathologically consistent with an accessory extraocular muscle rather than a fibrous band, in a patient with Gorlin syndrome (nevoid basal cell carcinoma syndrome), an autosomal dominant multisystem disorder related to a mutation in the patched tumor suppressor gene (PTCH). Histopathology of an anomalous orbital structure consistent with extraocular muscle has not been previously reported.
Source: Journal of American Association for Pediatric Ophthalmology and Strabismus - November 3, 2014 Category: Opthalmology Source Type: research
