2,206 results match your criteria: "Nevoid Basal Cell Carcinoma Syndrome"
Sporadic vs. basal cell nevus syndrome associated odontogenic keratocysts: focus on CT and MRI including DWI.
Oral Radiol
December 2024
Department of Radiology, Nihon University School of Dentistry at Matsudo, 2-870-1 Sakaecho-Nishi, Matsudo, Chiba, 271-8587, Japan.
Purpose: This study aimed to evaluate odontogenic keratocysts associated with basal cell nevus syndrome (BCNS) using computed tomography (CT) and magnetic resornance imaging (MRI) including diffusion-weighted imaging (DWI) and compare them with sporadic cases.
Materials And Methods: This study investigated 17 outpatients who underwent panoramic radiography, CT, and MRI between August 2012 and January 2021. Five of these patients had BCNS had 16 odontogenic keratocysts, for which the authors recorded detailed findings.
A case of nevoid basal cell carcinoma syndrome with segmentally unilaterally arranged hypertrichosis and circumscribed palmar hypokeratosis histologically presenting as basal cell carcinoma.
J Dermatol
December 2024
Department of Dermatology, Kochi Medical School, Kochi University, Kochi, Japan.
Bifid rib in bioarchaeological material on the example of new cases from Poland with literature review and proposal of classification.
Sci Rep
December 2024
Department of Anthropology, Faculty of Biology and Environmental Protection, University of Lodz, Banacha Str. 12/16, Łódź, 90-237, Poland.
Article Synopsis
- - The study examines the rare skeletal anomaly known as bifid rib, which appears in less than 1.5% of the population and faces challenges in identification due to postmortem damage and similarity to other conditions.
- - It presents five cases of rib bifurcation from four individuals across different populations in the Kujawy region of Poland, analyzed through morphological and paleoradiological methods.
- - The research also critiques existing evidence linking bifurcated ribs to naevoid basal cell carcinoma syndrome and proposes a new way to classify this anomaly in osteological studies.
A new nonsense mutation of PTCH1 gene in mother and daughter with late-onset nevus basal cell carcinoma syndrome: Case report.
Medicine (Baltimore)
November 2024
Department of Dermatology, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, China.
Article Synopsis
- - The study focuses on Nevoid basal cell carcinoma syndrome (NBCCS), a rare condition linked to high rates of basal cell carcinoma, potentially caused by mutations in the PTCH1 gene.
- - Researchers identified a new nonsense mutation in the PTCH1 gene in a mother and her daughter, both of whom also had ovarian mature teratomas.
- - Treatment outcomes showed persistent issues for both individuals, underscoring the complex effects of the mutation and related health challenges.
Phase 2 Trial of Topical Application of the Hedgehog Inhibitor Patidegib in Patients With Gorlin Syndrome.
Br J Dermatol
November 2024
Department of Dermatology, Stanford University School of Medicine, Stanford, CA, USA.
Background: Patients with Gorlin (basal cell nevus) syndrome (GS) have numerous phenotypic abnormalities due to over-activity of the hedgehog (HH) signaling pathway, most commonly due to a heritable mutation in the PTCH1 gene, which encodes a major inhibitor of this pathway. HH inhibitors (HHi) taken orally can reverse some of the manifestations, most prominent of which is the development of numerous cutaneous basal cell carcinomas (BCCs). In order to improve the benefit:risk ratio, we have developed a gel containing a small cyclopamine-derived molecule that can be applied topically in expectation that this mode of delivery can reduce the burden of BCCs without producing the systemic adverse effects that cause patients to stop treatment with oral HHis.
View Article and Find Full Text PDFNeurocritical Complications of Basal Cell Carcinoma With Intracranial Invasion.
Cureus
October 2024
Neurocritical Care, Thomas Jefferson University Hospital, Philadelphia, USA.
Basal cell carcinoma (BCC) is the most common type of skin cancer, accounting for the majority of non-melanoma-type skin cancers. BCC is slow-growing and locally aggressive but rarely metastasizes.Although scarce, important consequences of untreated or recurrent BCC of the scalp are direct invasion into the skull, meninges, and/or brain.
View Article and Find Full Text PDFUse of Anti-PD1 Blockade After Hedgehog Inhibitors or as First-Line Therapy for Gorlin Syndrome.
JAMA Dermatol
November 2024
Medical Faculty Heidelberg, Department of Dermatology and National Center for Tumor Diseases, Heidelberg University, Heidelberg, Germany.
Re-evaluation of the concept of basaloid follicular hamartoma associated with naevoid basal cell carcinoma syndrome: a morphological, immunohistochemical and molecular study.
Pathology
September 2024
Department of Pathology, Université de Tours, Centre Hospitalier Universitaire de Tours, Tours, France; CARADERM Network, France; 'Biologie des infections à polyomavirus' Team, UMR INRA ISP 1282, Université de Tours, Tours, France.
Article Synopsis
- - Naevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic condition caused by mutations in the Sonic Hedgehog (SHH) pathway, leading to early development of multiple basal cell carcinomas (BCCs) and related skin tumors like basaloid follicular hamartoma (BFH).
- - A study analyzed 140 skin tumors from NBCCS patients and 140 control BCC tumors to compare their morphological characteristics, finding that BFH was exclusively present in NBCCS patients and had distinct histopathological features.
- - The research indicates that BFH could represent precursors to BCC, as it was identified in up to 24% of the tumors in NBCCS patients, with possible
Understanding and managing locally advanced basal cell carcinoma: insights into pathogenesis, therapeutic strategies, and the role of hedgehog pathway inhibitors.
Ital J Dermatol Venerol
October 2024
Department of Dermatology, San Cecilio University Hospital, Granada, Spain -
Understanding and managing locally advanced basal cell carcinoma (BCC) is crucial given its substantial prevalence and potential for local tissue destruction. While BCC typically exhibits low metastatic potential, its high incidence underscores the need for enhanced therapeutic strategies. Locally advanced BCC presents unique challenges, often necessitating aggressive interventions to prevent disfigurement and functional impairment.
View Article and Find Full Text PDFExploration of the causative gene in a case of multiple nevoid basal cell carcinoma: A case report.
Rare Tumors
October 2024
Plastic Surgery, Affiliated Hospital of Qingdao University, Qingdao, China.
Nevoid basal cell carcinoma syndrome is a rare autosomal dominant disorder characterized by a diverse clinical presentation, which includes developmental abnormalities and tumorigenesis that can impact multiple organ systems. Basal cell carcinoma is the most common and characteristic clinical presentation in patients with NBCCS. There are three identified causative genes for this disease, the PTCH1 gene located at 9q22-31, the PTCH2 gene at 1p32-34, and the SUFU gene at 10q24.
View Article and Find Full Text PDFArticle Synopsis
- Gorlin-Goltz syndrome (GGS) is an autosomal dominant genetic condition linked to an increased risk of multiple basal cell carcinomas (BCCs) and associated with mutations in the PTCH1 or SUFU genes, though diagnosis can occur without these markers.
- The main symptom of GGS is the development of multiple BCCs, which usually grow slowly and stay localized, but can sometimes be more aggressive in affected individuals.
- A recent case demonstrates that radiation therapy (RT), typically avoided due to the heightened risk of BCCs in GGS patients, can be effective and safe in treating an inoperable BCC that had metastasized, suggesting the need for personalized treatment approaches.
Inherited Basaloid Neoplasms Associated With SUFU Pathogenic Variants.
JAMA Dermatol
November 2024
Department of Dermatology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia.
Article Synopsis
- This study investigates the range of skin conditions in patients with germline SUFU pathogenic variants (PVs), focusing on their clinical and histopathologic features.* -
- Conducted across U.S. dermatology and genetics clinics over eight years, the study analyzed skin biopsy samples from five female patients aged 31-68, identifying several types of skin tumors.* -
- Findings reveal that alongside typical basal cell carcinomas, these patients exhibit various indolent skin lesions, indicating a broader range of cutaneous manifestations associated with SUFU PVs.*
Clinicopathological and molecular spectrum of patients with germline SUFU mutations: A case series.
J Cutan Pathol
December 2024
Department of Pathology, Erasmus University Medical Center, Rotterdam, The Netherlands.
Article Synopsis
- Basal cell nevus syndrome (BCNS) can lead to multiple early-onset basal cell carcinomas (BCCs), with some cases linked to germline SUFU mutations, resulting in varying phenotypes, including multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC).
- A study involving three patients with the MHIBCC phenotype identified new pathogenic SUFU variations, highlighting the different health risks associated with these mutations compared to other types of BCNS.
- It’s important for healthcare providers to recognize the MHIBCC phenotype to offer appropriate care, as the implications of germline SUFU mutations differ from those of other genetic syndromes like BCNS.
Nevoid basal cell carcinoma (Gorlin-Goltz) syndrome: an incidental finding.
BMJ Case Rep
August 2024
Oral Medicine and Radiology, JSS Academy of Higher Education and Research, Mysore, Karnataka, India.
Article Synopsis
- Gorlin-Goltz syndrome, also referred to as basal cell nevus syndrome, is a rare genetic disorder that features skeletal issues, specific cysts in the mouth, and skin growths known as basal cell nevi.
- Diagnosis involves assessing both major and minor clinical signs as well as imaging tests, with oral medicine and radiology specialists playing a key role due to the condition's oral manifestations.
- A case study of a male in his late 20s reveals that using advanced digital imaging techniques is essential, as traditional X-rays could miss important details about his multiple cystic lesions, ultimately leading to the diagnosis of Gorlin-Goltz syndrome.
Mosaic SUFU mutation associated with a mild phenotype of multiple hereditary infundibulocystic basal cell carcinoma syndrome.
J Dermatol
August 2024
Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.
Article Synopsis
- Multiple hereditary infundibulocystic basal cell carcinoma syndrome (MHIBCC) is a genetic disorder linked to SUFU gene mutations, resulting in skin tumors called infundibulocystic basal cell carcinomas (IBCCs).
- A case study of a 57-year-old woman revealed a rare form of mosaic MHIBCC, where a specific SUFU mutation was found in both her tumors and blood, albeit at different frequencies.
- The findings suggest that this mosaicism, along with a loss of heterozygosity on chromosome 10, may lead to a milder presentation of MHIBCC but still carries an increased risk for more severe tumors.
Basaloid Follicular Hamartoma: A Histologic Clue for Diagnosis of Nevoid Basal Cell Carcinoma Syndrome.
Dermatol Surg
January 2025
Department of Dermatology, MedStar Washington Hospital Center, Washington, District of Columbia.
Minimally Invasive Plasma Device Management of Multiple Benign Skin Cancers Associated with Rare Genodermatoses-Case Series and Review of the Therapeutic Methods.
J Clin Med
July 2024
Department of Dermatology, Military Institute of Medicine-National Research Institute, Central Clinical Hospital Ministry of Defense, Szaserow 128, 04-141 Warsaw, Poland.
Article Synopsis
- * A recent study looked at 11 patients with skin tumors, showing that a new FDA-approved plasma device was very effective for treating some of them, leading to great results.
- * Having multiple skin tumors, especially on the face, can be tough for people's feelings and lives, so finding the right treatment that works for each person is really important.
Efficacy, tolerability, and quality of life evaluation in six patients affected by Gorlin-Goltz syndrome and treated with vismodegib 150 mg/die: a retrospective monocentric cohort analysis.
Ital J Dermatol Venerol
August 2024
Oncologic Dermatology Unit, IRCCS Azienda Ospedaliera Universitaria di Bologna, Bologna, Italy.
Developing expert consensus for the use of hedgehog inhibitors in basal cell nevus syndrome.
Arch Dermatol Res
July 2024
Department of Dermatology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Oral smoothened inhibitors for Gorlin syndrome: A clinical review.
J Am Acad Dermatol
October 2024
Feinberg School of Medicine's, Department of Dermatology, Northwestern University, Chicago, Illinois.
Article Synopsis
- Smoothened inhibitors (SMOi) are effective for treating basal cell carcinoma but lack guidelines for use in Gorlin syndrome (GS).
- This review aims to evaluate how effective SMOi is for GS, offer practical advice for doctors, and highlight areas needing more research.
- It found that both intermittent and daily dosing of SMOi have similar effectiveness, but intermittent dosing may lead to better patient adherence despite potential side effects.
Gorlin Syndrome-Associated Basal Cell Carcinomas Treated with Vismodegib or Sonidegib: A Retrospective Study.
Cancers (Basel)
June 2024
Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, 20122 Milan, Italy.
Article Synopsis
- Nevoid basal cell carcinoma syndrome (NBCCS), or Gorlin syndrome, is a genetic disorder causing multiple basal cell carcinomas (BCCs) due to mutations in the hedgehog signaling pathway.
- A recent study analyzed 16 patients with Gorlin syndrome treated with hedgehog inhibitors (sonidegib and vismodegib) to evaluate their effectiveness and safety in managing BCCs.
- Results showed that sonidegib was more effective and safer than vismodegib, with adjustments in its administration improving patient tolerability and potentially extending treatment response and disease control.
Vismodegib in Gorlin-Goltz syndrome: A systematic review.
Australas J Dermatol
September 2024
Dermatology Department, Centro Hospitalar Lisboa Ocidental, Hospital de Egas Moniz, Lisbon, Portugal.
Treatment with Hedgehog Inhibitors in Gorlin-Goltz syndrome (GGS) yields favourable objective clinical responses, yet secondary resistance and class-related toxicity restrict treatment duration. This study aims to review current data on GGS patients undergoing vismodegib therapy, focusing on treatment duration, clinical outcomes and schedule modifications. A systematic search of the PubMed database was conducted for English articles from 1993 to 2023, identifying 31 papers suitable for inclusion.
View Article and Find Full Text PDFGermline PTCH1: c.361_362insAlu alteration identified by comprehensive exome and RNA sequencing in a patient with Gorlin syndrome.
Am J Med Genet A
October 2024
College of Medicine, University of Cincinnati, Cincinnati, Ohio, USA.
Gorlin syndrome can be caused by pathogenic/likely pathogenic (P/LP) variants in the tumor suppressor gene PTCH1 (9q22.1-q31), which encodes the receptor for the sonic hedgehog (SHH) ligand. We present a 12-month-old boy clinically diagnosed with Gorlin syndrome who was found to have significantly delayed development, palmar pitting, palmar and plantar keratosis, short hands, frontal bossing, coarse face, hypertelorism, a bifid rib, misaligned and missing teeth, and SHH-activated medulloblastoma.
View Article and Find Full Text PDFFurther Expanding the Mutational Spectrum of Gorlin Syndrome in Three Unrelated Families.
Mol Syndromol
June 2024
Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Article Synopsis
- - Gorlin syndrome is a rare genetic disorder that increases the risk of certain cancers and is primarily caused by genetic mutations that disrupt the sonic hedgehog signaling pathway.
- - The study highlights clinical features and genetic variations from nine patients in three families, finding various physical signs like macrocephaly and odontogenic keratocysts, which are key to diagnosis.
- - Early recognition of Gorlin syndrome is crucial, especially in patients with specific symptoms, and thorough examination of family members can help identify more individuals affected by the syndrome.
F-FDG PET/CT findings in nevoid basal cell carcinoma syndrome: a systematic review and a new case report.
BMC Womens Health
May 2024
Department of PET/CT, Qingdao Central Hospital, No 127. SiLiu Nan Street, ShanDong Province, Qingdao City, 266042, China.
Background: To demonstrate and analyze the F-FDG positron emission tomography/computed tomography (PET/CT) findings in this rare nevoid basal cell carcinoma syndrome (NBCCS).
Case Presentation: A 71-year-old woman with the left invasive breast cancer was treated with hormone therapy for six months and underwent the F-FDG PET/CT examination for efficacy evaluation. F-FDG PET/CT revealed the improvement after treatment and other unexpected findings, including multiple nodules on the skin with F-FDG uptake, bone expansion of cystic lesions in the bilateral ribs, ectopic calcifications and dilated right ureter.