Sonidegib as a locally advanced basal cell carcinoma therapy in real-life clinical setting: a national multicentre study
CONCLUSION: Sonidegib shows good effectiveness and acceptable safety profile in usual clinical practice.PMID:37088285 | DOI:10.1016/j.ad.2023.04.022 (Source: Actas Dermo-Sifiliograficas)
Source: Actas Dermo-Sifiliograficas - April 23, 2023 Category: Dermatology Authors: O M Moreno-Arrones S B éa-Ardebol F Mayo-Martinez G P érez-Pastor I Torres-Navarro M Bonfill-Ort í L G Deza-Vargas V Ruiz-Salas E Masferrer C Feal L Turri ón-Merino A Toll M Y ébenes S Galiano-Mej ías A Jaka C Ferrandiz-Pulido A Florez N Hern ández Source Type: research
Sonidegib as a locally advanced basal cell carcinoma therapy in real-life clinical setting: a national multicentre study
CONCLUSION: Sonidegib shows good effectiveness and acceptable safety profile in usual clinical practice.PMID:37088285 | DOI:10.1016/j.ad.2023.04.022 (Source: Actas Dermo-Sifiliograficas)
Source: Actas Dermo-Sifiliograficas - April 23, 2023 Category: Dermatology Authors: O M Moreno-Arrones S B éa-Ardebol F Mayo-Martinez G P érez-Pastor I Torres-Navarro M Bonfill-Ort í L G Deza-Vargas V Ruiz-Salas E Masferrer C Feal L Turri ón-Merino A Toll M Y ébenes S Galiano-Mej ías A Jaka C Ferrandiz-Pulido A Florez N Hern ández Source Type: research
Sonidegib as a locally advanced basal cell carcinoma therapy in real-life clinical setting: a national multicentre study
CONCLUSION: Sonidegib shows good effectiveness and acceptable safety profile in usual clinical practice.PMID:37088285 | DOI:10.1016/j.ad.2023.04.022 (Source: Actas Dermo-Sifiliograficas)
Source: Actas Dermo-Sifiliograficas - April 21, 2023 Category: Dermatology Authors: O M Moreno-Arrones S B éa-Ardebol F Mayo-Martinez G P érez-Pastor I Torres-Navarro M Bonfill-Ort í L G Deza-Vargas V Ruiz-Salas E Masferrer C Feal L Turri ón-Merino A Toll M Y ébenes S Galiano-Mej ías A Jaka C Ferrandiz-Pulido A Florez N Hern ández Source Type: research
1322 A non-cell autonomous dermal hedgehog signaling mechanism for follicular neoplasia and induction
Gorlin syndrome (also known as basal cell nevus syndrome) is a hereditary condition characterized by development of numerous epidermal and follicular tumors. Mutations in theSHH signaling pathway are key drivers of this disease. It is currently unknown whether SHH mutations in non-epidermal cell types play a role in Gorlin syndrome phenotypes, the tumor microenvironment, or altered skin development. Through lineage tracing using a tamoxifen inducible Cre-recombinase under the control of the Twist2 promoter (Twist2-CreERT2;R26-tdTO), we identify Twist2-expressing cells of mouse skin are located in the dermis and dermal shea...
Source: Journal of Investigative Dermatology - April 17, 2023 Category: Dermatology Authors: S. Li, A. Shah, E. Sanchez-Ortiz, N. Liu, E. Olson Source Type: research
How reliable are follow-up studies on odontogenic keratocysts?
Follow-up studies on odontogenic keratocysts have reported widely varying recurrence rates. This raises the question of how reliable these studies are and how the results should be interpreted. The aim of this study was to critically assess the information from all follow-up studies published since 2004 against a set of criteria to determine how thorough the study was. These criteria include the exclusion of the orthokeratinized variant, exclusion of cysts associated with nevoid basal cell carcinoma syndrome, and appropriate reporting of dropouts. (Source: International Journal of Oral and Maxillofacial Surgery)
Source: International Journal of Oral and Maxillofacial Surgery - April 17, 2023 Category: ENT & OMF Authors: P.J.W. Stoelinga, R. Grillo, Y.S. da Silva Tags: Clinical Paper Source Type: research
The expanding genetic and clinical landscape associated with Meier-Gorlin syndrome
European Journal of Human Genetics, Published online: 14 April 2023; doi:10.1038/s41431-023-01359-zThe expanding genetic and clinical landscape associated with Meier-Gorlin syndrome (Source: European Journal of Human Genetics)
Source: European Journal of Human Genetics - April 14, 2023 Category: Genetics & Stem Cells Authors: Emily Nielsen-Dandoroff Mischa S. G. Ruegg Louise S. Bicknell Source Type: research
Perspectives on the implications of carrying putative pathogenic variants in the medulloblastoma predisposition genes ELP1 and GPR161
AbstractRecent genetic sequencing studies in large series ’ of predominantly childhood medulloblastoma have implicated loss-of-function, predominantly truncating, variants in theELP1 andGPR161 genes in causation of the MBSHH subtype specifically. The latter association, along with a report of an index case with some features of Gorlin syndrome has led to speculation thatGPR161 may also cause Gorlin syndrome. We show that these genes are associated with relatively low absolute risks of medulloblastoma from extrapolating lifetime risks in the general population and odds ratios from the population database gnomAD. The proje...
Source: Familial Cancer - March 24, 2023 Category: Cancer & Oncology Source Type: research
39. Ovarian Fibromas in Adolescents with Gorlin Syndrome: A Case Series
Gorlin syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder characterized by a predisposition to various benign and malignant tumors, including ovarian fibromas. The purpose of this study is to report the presentation and management of patients with Gorlin Syndrome and ovarian fibromas at a single institution. (Source: Journal of Pediatric and Adolescent Gynecology)
Source: Journal of Pediatric and Adolescent Gynecology - March 11, 2023 Category: OBGYN Authors: Danielle Cipres, Jessica Y. Shim Source Type: research
Bilateral ovarian fibromas in premenarchal girl with Gorlin-Goltz syndrome
Ovarian fibromas in children are atypical, in approximately 10% of the cases they are reported as bilateral. In premenarchal females can be a manifestation of Gorlin-Goltz syndrome, rare autosomal dominant disorder (1/60.000) with multisystemic developmental abnormalities, caused by mutations of the PTCH1 gene.A notable case of an eight-year-old female with Gorlin-Goltz syndrome and bilateral ovarian fibromas is presented. At the age of 11 months, she was diagnosed with desmoplastic medulloblastoma. (Source: Journal of Pediatric and Adolescent Gynecology)
Source: Journal of Pediatric and Adolescent Gynecology - March 11, 2023 Category: OBGYN Authors: Marina Jakimovska Stefanovska, Jure Gruntar, Lidija Kitanoski Source Type: research
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly
In this study, we expand the phenotype of MCPH3 as we describe a 10-year-old girl with a biallelic exonic frameshift variant in CDK5RAP2 displaying previously unreported features usually associated with Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II (MOPDII). We further describe the clinical phenotype of this form of centrosomal-based primary microcephaly and emphasize the importance of skeletal defect screening in affected individuals.PMID:36842471 | DOI:10.1016/j.ejmg.2023.104733 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 26, 2023 Category: Genetics & Stem Cells Authors: Quentin Sabbagh Myl ène Tharreau Camille Cenni Elodie Sanchez Nathalie Ruiz-Pallares Fanny Alkar Cyril Amouroux St éphanie David Nicolas Leboucq Isabelle Meunier Didier Bessis Alexandre Theron Mouna Barat-Houari Marjolaine Willems Source Type: research
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly
In this study, we expand the phenotype of MCPH3 as we describe a 10-year-old girl with a biallelic exonic frameshift variant in CDK5RAP2 displaying previously unreported features usually associated with Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II (MOPDII). We further describe the clinical phenotype of this form of centrosomal-based primary microcephaly and emphasize the importance of skeletal defect screening in affected individuals.PMID:36842471 | DOI:10.1016/j.ejmg.2023.104733 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 26, 2023 Category: Genetics & Stem Cells Authors: Quentin Sabbagh Myl ène Tharreau Camille Cenni Elodie Sanchez Nathalie Ruiz-Pallares Fanny Alkar Cyril Amouroux St éphanie David Nicolas Leboucq Isabelle Meunier Didier Bessis Alexandre Theron Mouna Barat-Houari Marjolaine Willems Source Type: research
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly
In this study, we expand the phenotype of MCPH3 as we describe a 10-year-old girl with a biallelic exonic frameshift variant in CDK5RAP2 displaying previously unreported features usually associated with Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II (MOPDII). We further describe the clinical phenotype of this form of centrosomal-based primary microcephaly and emphasize the importance of skeletal defect screening in affected individuals.PMID:36842471 | DOI:10.1016/j.ejmg.2023.104733 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 26, 2023 Category: Genetics & Stem Cells Authors: Quentin Sabbagh Myl ène Tharreau Camille Cenni Elodie Sanchez Nathalie Ruiz-Pallares Fanny Alkar Cyril Amouroux St éphanie David Nicolas Leboucq Isabelle Meunier Didier Bessis Alexandre Theron Mouna Barat-Houari Marjolaine Willems Source Type: research
Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly
In this study, we expand the phenotype of MCPH3 as we describe a 10-year-old girl with a biallelic exonic frameshift variant in CDK5RAP2 displaying previously unreported features usually associated with Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II (MOPDII). We further describe the clinical phenotype of this form of centrosomal-based primary microcephaly and emphasize the importance of skeletal defect screening in affected individuals.PMID:36842471 | DOI:10.1016/j.ejmg.2023.104733 (Source: European Journal of Medical Genetics)
Source: European Journal of Medical Genetics - February 26, 2023 Category: Genetics & Stem Cells Authors: Quentin Sabbagh Myl ène Tharreau Camille Cenni Elodie Sanchez Nathalie Ruiz-Pallares Fanny Alkar Cyril Amouroux St éphanie David Nicolas Leboucq Isabelle Meunier Didier Bessis Alexandre Theron Mouna Barat-Houari Marjolaine Willems Source Type: research
SUFU-associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma
We present two patients with MHIBCC, along with a more complex cutaneous and extracutaneous phenotype. MHIBCC syndrome and BCNS may share clinical features and, indeed, both syndromes probably represent different degrees of upregulation in the Hh pathway.PMID:36825822 | DOI:10.1111/ajd.14014 (Source: The Australasian Journal of Dermatology)
Source: The Australasian Journal of Dermatology - February 24, 2023 Category: Dermatology Authors: Marcial Álvarez-Salafranca Mar Garc ía-García Andrea Montes-Torres Ignacio Rivera-Fuertes Mar ía Teresa López-Giménez Mariano Ara Source Type: research
SUFU-associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma
We present two patients with MHIBCC, along with a more complex cutaneous and extracutaneous phenotype. MHIBCC syndrome and BCNS may share clinical features and, indeed, both syndromes probably represent different degrees of upregulation in the Hh pathway.PMID:36825822 | DOI:10.1111/ajd.14014 (Source: The Australasian Journal of Dermatology)
Source: The Australasian Journal of Dermatology - February 24, 2023 Category: Dermatology Authors: Marcial Álvarez-Salafranca Mar Garc ía-García Andrea Montes-Torres Ignacio Rivera-Fuertes Mar ía Teresa López-Giménez Mariano Ara Source Type: research
