2,066 results match your criteria Nevoid Basal Cell Carcinoma Syndrome


A case of nevoid basal cell carcinoma syndrome dominated by facial basal cell carcinoma.

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2022 Mar;47(3):384-389

Department of Plastic and Cosmetic Surgery, Xiangya Hospital, Central South University, Changsha 410008.

Nevus-like basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant disease characterized by the occurrence of multiple maxillofacial keratocysts, basal cell carcinoma, child medulloblastoma, and various skeletal and soft tissue dysplasia. In 2020, a patient with NBCCS dominated by facial basal cell carcinoma was admitted to Xiangya Hospital of Central South University. The patient was an elderly woman. Read More

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Dermoscopy of cutaneous adnexal tumors: a systematic review of the literature.

J Eur Acad Dermatol Venereol 2022 May 10. Epub 2022 May 10.

Centro Oncologico ad Alta Tecnologia Diagnostica, Azienda Unità Sanitaria Locale - IRCCS di Reggio Emilia, Italy.

Cutaneous adnexal tumors (ATs) encompass a variegated group of hamartomas and benign or malignant tumors, originating from the hair follicle, sebaceous, eccrine or apocrine glands that may simulate other cutaneous neoplasms. This study aims to provide a comprehensive overview of the spectrum of clinical and dermoscopic features of ATs, to better define these lesions and assist in differential diagnosis. We performed a two-step systematic search of literature in PubMed, Embase, and Cochrane Library databases from inception until September 4, 2020. Read More

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Development of a targeted gene panel for the diagnosis of Gorlin syndrome.

Int J Oral Maxillofac Surg 2022 Apr 15. Epub 2022 Apr 15.

Department of Biochemistry, Tokyo Dental College, Chiyoda-ku, Tokyo, Japan. Electronic address:

Gorlin syndrome is a rare autosomal dominant disease caused by mutations in the PTCH1, PTCH2, and SUFU genes. Each symptom of the disease has a different time point of onset, which makes early diagnosis based solely on symptoms challenging. In this study, a gene panel was developed to overcome the challenges in the diagnosis of Gorlin syndrome and allow diagnosis using a single test. Read More

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Update from the 5th Edition of the World Health Organization Classification of Head and Neck Tumors: Familial Tumor Syndromes.

Head Neck Pathol 2022 Mar 21;16(1):143-157. Epub 2022 Mar 21.

MD Anderson Cancer Center, Houston, TX, USA.

The initiative of the 5th edition of the WHO classification of the Head and Neck Tumours establishing a new section dedicated to familial/heritable tumor syndromes with tumors and lesions in the head and neck region was much needed to better understand the tumours, diseases, and associated syndromes, as well as establish recommendations for monitoring and treating these patients. (WHO Classification of Tumours Editorial Board. Head and Neck tumours. Read More

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The odontogenic keratocyst revisited.

Authors:
P J W Stoelinga

Int J Oral Maxillofac Surg 2022 Mar 8. Epub 2022 Mar 8.

Department of Oral and Maxillofacial Surgery, Radboud University, Nijmegen, The Netherlands. Electronic address:

The treatment of odontogenic keratocysts is reviewed in light of the aetiology and pathogenesis of these lesions. The role of the dental lamina and submucosal hamartias, as frequently seen in nevoid basal cell carcinoma syndrome, is discussed, and the implications for treatment are emphasized. Read More

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A Case of Gorlin-Goltz Syndrome Without the Characteristic Physical Features That Was Diagnosed After the Development of a Fifth Cancer.

J Pediatr Hematol Oncol 2022 05 1;44(4):e869-e871. Epub 2022 Mar 1.

Department of Pediatrics, Osaka Medical and Pharmaceutical University, Osaka.

We present a case of Gorlin-Goltz syndrome (GGS) in a patient who developed medulloblastoma, osteosarcoma, myelodysplastic syndrome, basal cell carcinoma, and odontogenic keratocyst by the age of 19 years. He had no known family history and no characteristic physical features of GGS. A frameshift mutation in the PTCH1 gene was found in the oral mucosa as a low-frequency mosaicism, basal cell carcinoma, and normal skin by whole exome sequencing of cancer susceptibility genes. Read More

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[Detection of SMO gene mutations in odontogenic keratocyst].

Zhonghua Kou Qiang Yi Xue Za Zhi 2022 Feb;57(2):149-154

Department of Oral Pathology, Peking University School and Hospital of Stomatology & National Center of Stomatology & National Clinical Research Center for Oral Diseases & National Engineering Research Center of Oral Biomaterials and Digital Medical Devices & Beijing Key Laboratory of Digital Stomatology, Beijing 100081, China.

To detect the SMO mutations in odontogenic keratocyst (OKC) and to explore the mechanism behind. Patients with OKC who received treatment in the Department of Oral and Maxillofacial Surgery, School and Hospital of Stomatology,Peking University, from September 2012 to June 2017 were enrolled. OKC samples from 10 patients diagnosed as naevoid basal cell carcinoma syndrome (NBCCS)-related OKC (4 females and 6 males) and 20 patients diagnosed as sporadic OKC (7 females and 13 males) were collected. Read More

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February 2022

The complexity of carcinosarcoma.

Authors:
Sunil Reddy

Oncology (Williston Park) 2021 12 21;35(12):814. Epub 2021 Dec 21.

Stanford University School of Medicine, Stanford, CA.

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December 2021

Metastatic Basal Cell Carcinoma Arising From a Primary Cutaneous Carcinosarcoma.

Oncology (Williston Park) 2021 12 20;35(12):812-815. Epub 2021 Dec 20.

University of Missouri Department of Dermatology.

Primary cutaneous carcinosarcoma is a rare malignant tumor composed of both an epithelial and mesenchymal cell population. We present a case of a man, aged 56 years, found to have a 26-mm exophytic lesion on the vertex scalp identified to contain a distinct population of basal cell carcinoma (BCC) as well as another population of spindled cells representing a poorly differentiated sarcomatous component. Five years after the removal of the primary lesion, the patient presented with metastatic BCC to the right scalp, right cervical nodes, lung, and rib. Read More

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December 2021

Clinical and pathological features associated with high-risk, multiple, and recurrent basal cell carcinomas: a retrospective cohort analysis from the Levantine coast of the Mediterranean Sea.

Arch Dermatol Res 2022 Jan 21. Epub 2022 Jan 21.

Dermatology department, School of Medicine, Université Saint-Joseph, and Hôtel-Dieu de France University Hospital, Hôtel-Dieu de France, Boulevard Alfred Naccache, Beirut, 16-6830, Lebanon.

Basal cell carcinoma (BCC) data coming from the Levantine coast of the Mediterranean Sea are limited. The study aimed to primarily analyze the demographic, clinical, pathological, and prognostic characteristics of BCC in this region of the world and secondarily identify features associated with high-risk, recurrent, or multiple BCCs. Patients with at least one diagnosis of BCC registered in the pathology department between January 2015 and December 2019 were included in this analytical retrospective single-center cohort study. Read More

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January 2022

Real-world assessment and treatment of locally advanced basal cell carcinoma: Findings from the RegiSONIC disease registry.

PLoS One 2022 14;17(1):e0262151. Epub 2022 Jan 14.

Dermatology, Memorial Sloan Kettering Cancer Center, New York, New York, United States of America.

Background: Limited information is available regarding real-world treatment patterns and their effectiveness and safety in patients with locally advanced basal cell carcinoma, including patients not typically represented in clinical trials. The purpose of the current study was to describe how clinicians diagnose and treat locally advanced basal cell carcinoma in the United States.

Methods: This prospective, multicenter, observational registry study included patients with newly diagnosed, Hedgehog pathway inhibitor-naive locally advanced basal cell carcinoma without basal cell carcinoma nevus syndrome (n = 433) treated at 75 US academic and community practices, including dermatology, Mohs surgery, and medical oncology sites. Read More

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February 2022

Inherited rare and common variants in PTCH1 and PTCH2 contributing to the predisposition to reproductive cancers.

Gene 2022 Mar 4;814:146157. Epub 2022 Jan 4.

Department of Molecular Diagnostics, Sun Yat-Sen University Cancer Center, State Key Laboratory of Oncology in South China, Collaborative Innovation Center for Cancer Medicine, Guangzhou 510060, PR China. Electronic address:

PTCH1 and PTCH2 are associated with nevoid basal cell carcinoma syndrome and basal cell carcinoma. We determined the prevalence of their common and rare variants in 877 patients with various reproductive cancers and 296 healthy subjects. Using targeted next-generation sequencing, we found significantly statistical associations of the minor alleles at seven common variants of PTCH1 and PTCH2 with a decreased risk of reproductive cancers (P = 9. Read More

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Meningothelial Hamartoma of the Scalp in a Child With Gorlin Syndrome.

Am J Dermatopathol 2022 Apr;44(4):e39-e40

Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.

Abstract: Meningothelial hamartoma of the scalp is a rare entity characterized by a mix of meningothelial tissue and various connective tissue elements. To the best of the authors' knowledge, there has only been one reported case of meningothelial hamartoma of the scalp in the setting of Gorlin syndrome in the literature. In this report, we describe the case of a 3-year-old boy with Gorlin syndrome who presented with a congenital scalp lesion. Read More

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Long-term efficacy of a Vismodegib regime including a 1-week drug holiday every month in two patients with Gorlin Goltz syndrome.

Dermatol Ther 2022 03 4;35(3):e15293. Epub 2022 Jan 4.

Department of Medical, Surgical and Neurological Science, Dermatology Section, University of Siena, S. Maria alle Scotte Hospital, Siena, Italy.

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Cancer-Predisposition Genetic Analysis in Children with Brain Tumors Treated at a Single Institution in Japan.

Oncology 2022 27;100(3):163-172. Epub 2021 Dec 27.

Department of Pediatrics, University of Tsukuba Hospital, Ibaraki, Japan.

Brain tumors affect one-third of all children with cancer. Approximately 10% of children with cancer carry variants in cancer-predisposition genes. However, germline analyses in large cohorts of Asian children have not been reported. Read More

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Improvement of Basal Cell Carcinomas in Patients with Nevoid Basal Cell Carcinoma Syndrome Following by 5-Aminolevulinic Acid Photodynamic Therapy: A Case Report.

Clin Cosmet Investig Dermatol 2021 16;14:1849-1855. Epub 2021 Dec 16.

Department of Dermatology and Venereology, West China Hospital, Sichuan University, Chengdu, Sichuan, People's Republic of China.

Nevoid basal cell carcinoma syndrome (NBCCS) is a rare autosomal dominant-inherited disease characterized by multiple basal cell carcinomas, multiple keratocystic odontogenic tumors, palmar and/or plantar pits. A 50-year-old male patient presented to our hospital with multiple plaques and maculopapular lesions on his face and trunk for more than 20 years. A skin biopsy revealed a number of discrete nests of basaloid cells in the dermis where the peripheral cells are arrayed like a palisade. Read More

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December 2021

Surprising genetic and pathological findings in a patient with giant bilateral periadrenal tumours: PEComas and mutations of in Gorlin-Goltz syndrome.

J Med Genet 2021 Dec 16. Epub 2021 Dec 16.

MTA-SE Hereditary Tumors Research Group, Eötvös Loránd Research Network, Budapest, Hungary.

Gorlin-Goltz syndrome (GGS) or nevoid basal cell carcinoma syndrome is a rare tumour-overgrowth syndrome associated with multiple developmental anomalies and a wide variety of tumours. Here, we describe a case of a man aged 23 years with GGS with bilateral giant tumours adjacent to both adrenals that raised the suspicion of malignancy on imaging. Histological analysis of both surgically resected tumours revealed perivascular epitheloid cell tumours (PEComas) that were independent of the adrenals. Read More

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December 2021

Calcified Ovarian Fibromas Complicated with Basal Cell Nevus Syndrome.

Gynecol Minim Invasive Ther 2021 Oct-Dec;10(4):256-258. Epub 2021 Nov 5.

Department of Obstetrics and Gynecology, Tottori University Faculty of Medicine, Yonago, Japan.

Basal cell nevus syndrome (BCNS) is a rare neurocutaneous syndrome characterized by tumorigeneses such as basal cell carcinomas, jaw cysts, ovarian fibromas, and cardiac fibromas. We present a 24-year-old female with calcified ovarian fibromas associated with BCNS. She had a surgical history of the maxillary cyst and was diagnosed with BCNS due to the cutaneous pits. Read More

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November 2021

Evaluation of Hedgehog Pathway Inhibition on Nevoid Basal Cell Carcinoma Syndrome Fibroblasts and Basal Cell Carcinoma-Associated Fibroblasts: Are Vismodegib and Sonidegib Useful to Target Cancer-Prone Fibroblasts?

Cancers (Basel) 2021 Nov 22;13(22). Epub 2021 Nov 22.

Laboratory of Cutaneous Physiopathology and Integrated Center of Metabolomics Research, San Gallicano Dermatological Institute, IRCCS, 00144 Rome, Italy.

Activating mutations in the Hh pathway underlies the development of sporadic and familial skin BCC. For these oncogenic proliferations displaying ligand-independent activation of the intracellular pathway, two molecules have been approved for therapeutic purposes: vismodegib and sonidegib. Improper Hh signalling occurs in many human tumours also via a paracrine mechanism (ligand-dependent) in which the secretion of Hh ligands by stromal cells support tumour growth. Read More

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November 2021

Pediatric basal cell carcinoma burden and management preferences in Gorlin syndrome: A survey study.

JAAD Int 2021 Dec 17;5:49-51. Epub 2021 Aug 17.

Department of Dermatology, Massachusetts General Hospital, Boston, Massachusetts.

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December 2021

How to manage patients with Gorlin syndrome.

Authors:
Ervin Epstein

Br J Dermatol 2022 02 22;186(2):203. Epub 2021 Nov 22.

MD (Private Practice), Oakland, CA, USA.

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February 2022

Basal Cell Carcinoma and Sebaceoma Within Nevus Sebaceous of the Scalp.

Cureus 2021 Oct 9;13(10):e18632. Epub 2021 Oct 9.

Pathology, University Hospitals Cleveland Medical Center, Cleveland, USA.

This case describes the occurrence of basal cell carcinoma (BCC) and sebaceoma within a nevus sebaceous (NV), which has not yet been previously reported. This is significant to dermatologists as it emphasizes the importance of close monitoring of benign sebaceous nevi in the event that malignant transformation occurs, although such occurrences are rare. Prompt consideration for prophylactic excision of NS is warranted prior to malignant transformation. Read More

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October 2021

Sporadic Cutaneous Keratocyst of the Scalp: A Report of an Extremely Rare Lesion.

Cureus 2021 Nov 2;13(11):e19206. Epub 2021 Nov 2.

General Surgery, Umm Al-Qura University, Makkah, SAU.

Keratocysts, which are benign cystic lesions that usually arise in the jawbones, particularly the mandible, can rarely occur in the skin and soft tissues. Odontogenic keratocysts, which are keratocysts in the jaw, are considered hallmarks of nevoid basal cell carcinoma syndrome (NBCCS). In contrast, cutaneous keratocysts (CKCs), which can occur in association with NBCCS, are rare. Read More

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November 2021

A nationwide study of the incidence and trends of first and multiple basal cell carcinomas in the Netherlands and prediction of future incidence.

Br J Dermatol 2022 03 27;186(3):476-484. Epub 2021 Dec 27.

Department of Research and Development, Netherlands Comprehensive Cancer Organisation (IKNL), Utrecht, the Netherlands.

Background: Basal cell carcinoma (BCC) is the most frequently diagnosed malignancy worldwide and an ever increasing annual incidence is observed. However, nationwide registries of BCCs are very rare, and often extrapolation of the data has been necessary to estimate the absolute number of diagnoses. As of September 2016, all histopathologically confirmed BCCs are registered in the Netherlands, due to developments in automatic notification and import in the Netherlands Cancer Registry. Read More

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Novel alterations in IFT172 and KIFAP3 may induce basal cell carcinoma.

Orphanet J Rare Dis 2021 10 21;16(1):443. Epub 2021 Oct 21.

Department of Biochemistry, Tokyo Dental College, 2-9-18, Kanda Misakichou, Chiyoda, Tokyo, 101-0061, Japan.

Background: Basal cell carcinoma (BCC) is the most commonly occurring neoplasm in patients with Gorlin syndrome. It is widely accepted that multiple basal cell carcinomas simultaneously develop in middle-aged patients with this syndrome. However, the presence of driver genes other than the PTCH1 in Gorlin syndrome has not been explored. Read More

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October 2021

Gorlin-Goltz syndrome without cutaneous manifestations.

Pan Afr Med J 2021;39:239. Epub 2021 Aug 13.

Department of Radiodiagnosis, Jawaharlal Nehru Medical College, Datta Meghe Institute of Medical Sciences, Sawangi (Meghe), Wardha, India.

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February 2022

A case of skin lesions of basal cell nevus syndrome.

Postepy Dermatol Alergol 2021 Aug 14;38(4):706-707. Epub 2021 Sep 14.

Stomatology Department, Chinese PLA Hospital, China.

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Proposed criteria for nevoid basal cell carcinoma syndrome in children assessed using statistical optimization.

Sci Rep 2021 10 5;11(1):19791. Epub 2021 Oct 5.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Nevoid basal cell carcinoma syndrome (NBCCS) is a tumor predisposition condition, the cardinal features of which emerge in adolescence or adulthood. Using statistical optimization, this study proposes NBCCS criteria with improved sensitivity in children less than 18 years of age. Earlier detection may lead to improved surveillance and prevention of sequelae. Read More

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October 2021

Nevoid basal cell carcinoma syndrome: a case report and literature review.

Ophthalmic Genet 2022 Feb 5;43(1):27-35. Epub 2021 Oct 5.

Department of Human and Molecular Genetics, Virginia Commonwealth University Health System, Richmond, VA, USA.

Background: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare genetic disorder associated with basal cell carcinomas (BCC), skeletal anomalies, and jaw cysts, and a number of ocular abnormalities. We describe a case of a 12-year-old boy diagnosed with NBCCS found to have several ophthalmic manifestations including a myelinated retinal nerve fiber. We conducted a literature review targeting the ocular and systemic manifestations of NBCCS, with a focus on the ophthalmic findings that have not been well characterized. Read More

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February 2022