Case report of bilateral ovarian fibromas associated with de novo germline variants in PTCH1 and SMARCA4
CONCLUSIONS: To our knowledge, this is the first report of bilateral benign ovarian fibroma in a child with a diagnosis of nevoid basal cell carcinoma syndrome (NBCCS) with a potential predisposition to Rhabdoid Tumor Predisposition Syndrome (RTPS).PMID:35775118 | DOI:10.1002/mgg3.2005 (Source: Molecular Medicine)
Source: Molecular Medicine - July 1, 2022 Category: Molecular Biology Authors: Tomoyasu Higashimoto Christy Haakonsen Smith Mark R Hopkins John Gross Deyin Xing Jae W Lee Traevia Morris Joann Bodurtha Source Type: research
Case report of bilateral ovarian fibromas associated with de novo germline variants in PTCH1 and SMARCA4
CONCLUSIONS: To our knowledge, this is the first report of bilateral benign ovarian fibroma in a child with a diagnosis of nevoid basal cell carcinoma syndrome (NBCCS) with a potential predisposition to Rhabdoid Tumor Predisposition Syndrome (RTPS).PMID:35775118 | DOI:10.1002/mgg3.2005 (Source: Molecular Medicine)
Source: Molecular Medicine - July 1, 2022 Category: Molecular Biology Authors: Tomoyasu Higashimoto Christy Haakonsen Smith Mark R Hopkins John Gross Deyin Xing Jae W Lee Traevia Morris Joann Bodurtha Source Type: research
Case report of bilateral ovarian fibromas associated with de novo germline variants in PTCH1 and SMARCA4
ConclusionsTo our knowledge, this is the first report of bilateral benign ovarian fibroma in a child with a diagnosis of nevoid basal cell carcinoma syndrome (NBCCS) with a potential predisposition to Rhabdoid Tumor Predisposition Syndrome (RTPS). (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - July 1, 2022 Category: Genetics & Stem Cells Authors: Tomoyasu Higashimoto,
Christy Haakonsen Smith,
Mark R. Hopkins,
John Gross,
Deyin Xing,
Jae W. Lee,
Traevia Morris,
Joann Bodurtha Tags: CLINICAL REPORT Source Type: research
Leiomyomatosis in an Infant With a SUFU Splice Site Variant: Case Report
We describe a case of a 5-month-old female who presented with multiple intra-abdominal leiomyomata and was found to have a likely pathogenic splice site variant in the SUFU gene. This is the first reported case of leiomyomatosis secondary to a pathogenic SUFU variant in an infant and may represent an early, atypical presentation of Gorlin syndrome. (Source: Journal of Pediatric Hematology Oncology)
Source: Journal of Pediatric Hematology Oncology - June 30, 2022 Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research
A rare case of cardiac fibroma diagnosis in Gorlin –Goltz syndrome with information on management
Future Cardiology, Ahead of Print. (Source: Future Cardiology)
Source: Future Cardiology - June 23, 2022 Category: Cardiology Authors: Shams Reaz Suhana Sammi Gunjan Gholkar Source Type: research
Unusual Basal Cell Carcinoma in an Adult Woman With Gorlin-Goltz Syndrome.
This case report describes a woman with a history of Gorlin-Goltz syndrome who presented with a medial canthal mass of the left eye. (Source: JAMA Ophthalmology)
Source: JAMA Ophthalmology - May 19, 2022 Category: Opthalmology Source Type: research
Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience
CONCLUSIONS: To the best of the authors' knowledge, this is the first detailed description of a comprehensive pediatric neurocutaneous clinic in the US that serves patients with multiple syndromes. There is currently heterogeneity between described multidisciplinary clinic structures and practices. More detailed accounts of clinic compositions and practices along with patient data and outcomes are needed in order to establish the most comprehensive and efficient multidisciplinary approach for neurocutaneous syndromes.PMID:35535824 | DOI:10.3171/2022.2.FOCUS21776 (Source: Neurosurgical Focus)
Source: Neurosurgical Focus - May 10, 2022 Category: Neurosurgery Authors: Audrey Grossen Theresa Gavula Deepti Chrusciel Alexander Evans Rene McNall-Knapp Ashley Taylor Benay Fossey Margaret Brakefield Carrick Carter Nadine Schwartz Naina Gross Andrew Jea Virendra Desai Source Type: research
Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience
CONCLUSIONS: To the best of the authors' knowledge, this is the first detailed description of a comprehensive pediatric neurocutaneous clinic in the US that serves patients with multiple syndromes. There is currently heterogeneity between described multidisciplinary clinic structures and practices. More detailed accounts of clinic compositions and practices along with patient data and outcomes are needed in order to establish the most comprehensive and efficient multidisciplinary approach for neurocutaneous syndromes.PMID:35535824 | DOI:10.3171/2022.2.FOCUS21776 (Source: Neurosurgical Focus)
Source: Neurosurgical Focus - May 10, 2022 Category: Neurosurgery Authors: Audrey Grossen Theresa Gavula Deepti Chrusciel Alexander Evans Rene McNall-Knapp Ashley Taylor Benay Fossey Margaret Brakefield Carrick Carter Nadine Schwartz Naina Gross Andrew Jea Virendra Desai Source Type: research
Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience
CONCLUSIONS: To the best of the authors' knowledge, this is the first detailed description of a comprehensive pediatric neurocutaneous clinic in the US that serves patients with multiple syndromes. There is currently heterogeneity between described multidisciplinary clinic structures and practices. More detailed accounts of clinic compositions and practices along with patient data and outcomes are needed in order to establish the most comprehensive and efficient multidisciplinary approach for neurocutaneous syndromes.PMID:35535824 | DOI:10.3171/2022.2.FOCUS21776 (Source: Neurosurgical Focus)
Source: Neurosurgical Focus - May 10, 2022 Category: Neurosurgery Authors: Audrey Grossen Theresa Gavula Deepti Chrusciel Alexander Evans Rene McNall-Knapp Ashley Taylor Benay Fossey Margaret Brakefield Carrick Carter Nadine Schwartz Naina Gross Andrew Jea Virendra Desai Source Type: research
Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience
CONCLUSIONS: To the best of the authors' knowledge, this is the first detailed description of a comprehensive pediatric neurocutaneous clinic in the US that serves patients with multiple syndromes. There is currently heterogeneity between described multidisciplinary clinic structures and practices. More detailed accounts of clinic compositions and practices along with patient data and outcomes are needed in order to establish the most comprehensive and efficient multidisciplinary approach for neurocutaneous syndromes.PMID:35535824 | DOI:10.3171/2022.2.FOCUS21776 (Source: Neurosurgical Focus)
Source: Neurosurgical Focus - May 10, 2022 Category: Neurosurgery Authors: Audrey Grossen Theresa Gavula Deepti Chrusciel Alexander Evans Rene McNall-Knapp Ashley Taylor Benay Fossey Margaret Brakefield Carrick Carter Nadine Schwartz Naina Gross Andrew Jea Virendra Desai Source Type: research
Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience
CONCLUSIONS: To the best of the authors' knowledge, this is the first detailed description of a comprehensive pediatric neurocutaneous clinic in the US that serves patients with multiple syndromes. There is currently heterogeneity between described multidisciplinary clinic structures and practices. More detailed accounts of clinic compositions and practices along with patient data and outcomes are needed in order to establish the most comprehensive and efficient multidisciplinary approach for neurocutaneous syndromes.PMID:35535824 | DOI:10.3171/2022.2.FOCUS21776 (Source: Neurosurgical Focus)
Source: Neurosurgical Focus - May 10, 2022 Category: Neurosurgery Authors: Audrey Grossen Theresa Gavula Deepti Chrusciel Alexander Evans Rene McNall-Knapp Ashley Taylor Benay Fossey Margaret Brakefield Carrick Carter Nadine Schwartz Naina Gross Andrew Jea Virendra Desai Source Type: research
Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience
CONCLUSIONS: To the best of the authors' knowledge, this is the first detailed description of a comprehensive pediatric neurocutaneous clinic in the US that serves patients with multiple syndromes. There is currently heterogeneity between described multidisciplinary clinic structures and practices. More detailed accounts of clinic compositions and practices along with patient data and outcomes are needed in order to establish the most comprehensive and efficient multidisciplinary approach for neurocutaneous syndromes.PMID:35535824 | DOI:10.3171/2022.2.FOCUS21776 (Source: Neurosurgical Focus)
Source: Neurosurgical Focus - May 10, 2022 Category: Neurosurgery Authors: Audrey Grossen Theresa Gavula Deepti Chrusciel Alexander Evans Rene McNall-Knapp Ashley Taylor Benay Fossey Margaret Brakefield Carrick Carter Nadine Schwartz Naina Gross Andrew Jea Virendra Desai Source Type: research
Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience
CONCLUSIONS: To the best of the authors' knowledge, this is the first detailed description of a comprehensive pediatric neurocutaneous clinic in the US that serves patients with multiple syndromes. There is currently heterogeneity between described multidisciplinary clinic structures and practices. More detailed accounts of clinic compositions and practices along with patient data and outcomes are needed in order to establish the most comprehensive and efficient multidisciplinary approach for neurocutaneous syndromes.PMID:35535824 | DOI:10.3171/2022.2.FOCUS21776 (Source: Neurosurgical Focus)
Source: Neurosurgical Focus - May 10, 2022 Category: Neurosurgery Authors: Audrey Grossen Theresa Gavula Deepti Chrusciel Alexander Evans Rene McNall-Knapp Ashley Taylor Benay Fossey Margaret Brakefield Carrick Carter Nadine Schwartz Naina Gross Andrew Jea Virendra Desai Source Type: research
Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience
CONCLUSIONS: To the best of the authors' knowledge, this is the first detailed description of a comprehensive pediatric neurocutaneous clinic in the US that serves patients with multiple syndromes. There is currently heterogeneity between described multidisciplinary clinic structures and practices. More detailed accounts of clinic compositions and practices along with patient data and outcomes are needed in order to establish the most comprehensive and efficient multidisciplinary approach for neurocutaneous syndromes.PMID:35535824 | DOI:10.3171/2022.2.FOCUS21776 (Source: Neurosurgical Focus)
Source: Neurosurgical Focus - May 10, 2022 Category: Neurosurgery Authors: Audrey Grossen Theresa Gavula Deepti Chrusciel Alexander Evans Rene McNall-Knapp Ashley Taylor Benay Fossey Margaret Brakefield Carrick Carter Nadine Schwartz Naina Gross Andrew Jea Virendra Desai Source Type: research
Multidisciplinary neurocutaneous syndrome clinics: a systematic review and institutional experience
CONCLUSIONS: To the best of the authors' knowledge, this is the first detailed description of a comprehensive pediatric neurocutaneous clinic in the US that serves patients with multiple syndromes. There is currently heterogeneity between described multidisciplinary clinic structures and practices. More detailed accounts of clinic compositions and practices along with patient data and outcomes are needed in order to establish the most comprehensive and efficient multidisciplinary approach for neurocutaneous syndromes.PMID:35535824 | DOI:10.3171/2022.2.FOCUS21776 (Source: Neurosurgical Focus)
Source: Neurosurgical Focus - May 10, 2022 Category: Neurosurgery Authors: Audrey Grossen Theresa Gavula Deepti Chrusciel Alexander Evans Rene McNall-Knapp Ashley Taylor Benay Fossey Margaret Brakefield Carrick Carter Nadine Schwartz Naina Gross Andrew Jea Virendra Desai Source Type: research
