1,306 results match your criteria: "Oral Nevi"

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.

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BACKGROUND White sponge nevus (WSN) is rare, hereditary oral mucosa disorder. This condition usually presents as asymptomatic white coatings on mucous membranes that vary in intensity and thickness. Changes are usually observed on the oral cavity mucosa, and other mucosal sites of involvement include nasal, esophageal, and anogenital.

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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.

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Oral sialadenoma papilliferum with kras mutation in a patient with linear nevus sebaceous syndrome.

Pathologica

August 2024

Unit of Anatomic Pathology, Bellaria Hospital, Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy.

Article Synopsis
  • Linear nevus sebaceous syndrome (LNSS) is a rare skin and neurological disorder that involves sebaceous nevi and other genetic lesions.
  • Sialadenoma papilliferum (SP) is a rare benign tumor in the mouth, usually linked to mutations in BRAF or HRAS genes.
  • This report presents a unique case of a young girl with LNSS who developed SP with a KRAS mutation, marking it as the first documented instance of this mutation related to LNSS.
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Spitz melanoma.

Clin Dermatol

September 2024

Departments of Pathology and Dermatology, UCSF Dermatopathology and Oral Pathology Service, University of California at San Francisco School of Medicine, San Francisco, California, USA. Electronic address:

Article Synopsis
  • - The distinction between Spitz nevus and melanoma can be challenging due to their similar histopathologic features, such as large melanocytes with distinct cytoplasm and nuclei.
  • - Advances in genomic studies have revealed that Spitz tumors have various genetic origins, leading to different categories of lesions (benign, intermediate, malignant), while some melanomas may resemble Spitz tumors but have typical initiating mutations.
  • - The current WHO definition of Spitz tumors focuses on those with mutations in the MAP kinase pathway, aiming to clarify classification and guide treatment, especially for tumors prevalent in younger individuals.*
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Effects of TET2-mediated methylation reconstruction on A2058 melanoma cell sensitivity to matrix stiffness in a 3D culture system.

Exp Cell Res

September 2024

Shanxi Key Laboratory of Micro Nano Sensors & Artificial Intelligence Perception, College of Integrated Circuits, Taiyuan University of Technology, Taiyuan, 030024, China; Key Lab of Advanced Transducers and Intelligent Control System of the Ministry of Education, Taiyuan University of Technology, Taiyuan, 030024, China. Electronic address:

Article Synopsis
  • Matrix stiffness influences tumor development, with TET2 playing a key role in epigenetic regulation in melanoma, being less active in advanced cases compared to early-stage melanomas.
  • In experiments with A2058 cell lines, increased stiffness in collagen hydrogels hindered the viability and invasion of melanoma cells, particularly affecting TET2 overexpressing (TET2OE) cells more than mutant (TET2M) ones.
  • The study highlights that TET2 is essential for regulating gene methylation, which affects how melanoma cells interact with their environment, suggesting new possibilities for melanoma treatments.
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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.
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Melanocytic nevi and melanomas of the oral mucosa: detailed description of a case series.

An Bras Dermatol

August 2024

Dentistry and Health Postgraduate Program, Faculty of Dentistry, Universidade Federal da Bahia, Salvador, BA, Brazil; Laboratory of Oral and Maxillofacial Pathology, Salvador, BA, Brazil. Electronic address:

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Article Synopsis
  • * These birthmarks occur mainly in areas supplied by the trigeminal nerve and consist of abnormal capillaries in deeper skin layers, leading to thickening and potential nodules over time.
  • * Diagnosis is primarily clinical, and management of PWSs involves understanding their complex nature and addressing associated psychosocial challenges through various treatments.
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Background: We present an unusual case of a graphite foreign body granuloma causing palatal perforation.

Case Description: A 62-year-old female presented with a macule on the hard palate clinically consistent with a blue nevus. On biopsy a black nodular mass was excised, establishing oroantral communication that was verified by a computed tomography scan.

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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.
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Significant improvement of a nevus spilus-type congenital melanocytic nevus with oral selumetinib.

Pediatr Dermatol

September 2024

Division of General Pediatrics, Section of Pediatric Dermatology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

Article Synopsis
  • Giant congenital melanocytic nevi (GCMN) can be visually impactful and have the potential to develop into melanoma.
  • Currently, there is no established drug treatment for GCMN.
  • A case study describes an 8-year-old girl with kaposiform lymphangiomatosis linked to an NRAS mutation, whose GCMN showed improvement after treatment with oral selumetinib.
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Article Synopsis
  • The forehead flap is an effective reconstructive technique used for complex facial defects, often in areas like the nose and around the eyes.
  • The article discusses three cases of congenital nevi in young children treated with this method, which involved surgery on multiple facial units.
  • This approach minimizes scarring and achieves great aesthetic and functional outcomes, demonstrating that careful planning can lead to successful long-term results.
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Article Synopsis
  • Median canaliform dystrophy of Heller (MCDH) is a rare nail disorder, often affecting thumbnails, characterized by transverse ridges resembling a fir tree.
  • A case report discusses a 60-year-old carpet weaver who developed nail dystrophy over 10 years, marked by a midline split and backward-angled ridges on her thumbnails and big toe nail.
  • The exact cause of MCDH is unclear, but factors like genetic predisposition, inflammation, and microtrauma from manual occupations (like carpet weaving) may contribute to its development.
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Masquerading Spitz naevi on the upper lip: A case report with a brief review of the literature.

J Oral Maxillofac Pathol

April 2024

Department of Oral Pathology and Microbiology, ESIC Dental College and Hospital, Rohini, Delhi, India.

Article Synopsis
  • - The rising occurrence of oral squamous cell carcinoma (OSCC) in younger individuals necessitates careful diagnosis by oral pathologists, as some lesions can mimic malignant tumors.
  • - While pediatric malignancies like OSCC are rare in very young children, benign melanocytic lesions such as Spitz naevi are more common and can complicate diagnoses due to their histological similarities with cancer.
  • - Employing diagnostic tools like immunohistochemistry (IHC) and focusing on clinical and histopathological correlations is crucial, as illustrated by a case where a lesion initially suspected to be cancerous was found to be a benign melanocytic naevus.
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A rare case of extremely low birth weight infant with Beckwith-Wiedemann syndrome.

Int J Surg Case Rep

June 2024

Department of Pediatric Surgery, Saitama Medical Center, Saitama Medical University, 1981 Kamoda, Kawagoe, Saitama 350-8550, Japan. Electronic address:

Article Synopsis
  • Beckwith-Wiedemann syndrome (BWS) is characterized by macroglossia, overgrowth, and abdominal wall defects, as highlighted in a case of an extremely low birth weight infant diagnosed three months after birth.*
  • The infant, delivered at 24 weeks, experienced abdominal wall issues and underwent surgery, but signs of BWS weren't recognized until later due to her critical condition and other management priorities.*
  • Early diagnosis of BWS is essential to address potential tumor risks, emphasizing the need for better awareness and screening practices among medical professionals for improved patient care.*
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Malignant transformation of white sponge nevus: a case report of a novel keratin 4 mutation.

BMC Oral Health

May 2024

State Key Laboratory of Oral Diseases, National Clinical Research Center for Oral Diseases, Research Unit of Oral Carcinogenesis and Management, Chinese Academy of Medical Sciences, West China Hospital of Stomatology, Sichuan University, Renmin Nan Street Section 3 NO 14, Chengdu, Sichuan, 610041, P. R. China.

Article Synopsis
  • - White Sponge Nevus (WSN) is a genetic disorder affecting the mouth caused by mutations in keratin genes (KRT4/KRT13), though it's typically seen as benign, some recent findings hint at its possible malignancy potential.
  • - A case study of a 70-year-old man showed that a diagnosed WSN lesion transformed into moderate-to-severe dysplasia over a year, suggesting possible malignant changes.
  • - Genetic analysis revealed a new mutation in the KRT4 gene linked to the lesion’s progression, indicating that WSN may have a malignant transformation risk, warranting further investigation.
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Article Synopsis
  • - Milia en plaque (MEP) is a rare skin condition first described in 1903 and can be confused with other skin disorders such as Favre-Racouchot nodular elastosis and steatocystoma multiplex.
  • - MEP can be primary (occurring on its own) or secondary (linked to other diseases) and is generally benign; it may develop after certain dermatological procedures, like cryotherapy.
  • - A case study is presented where MEP indicated the first signs of folliculotropic mycosis fungoides (FMF), highlighting the importance of early diagnosis and treatment for improving patient outcomes, using treatments like oral retinoids and phototherapy.
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Article Synopsis
  • The text introduces a rare case of a patient with both benign and malignant jaw lesions simultaneously, highlighting the scarcity of such instances in existing literature.
  • The patient has right maxillary squamous cell carcinoma and several benign odontogenic cystic lesions, which also align with Gorlin-Goltz syndrome characteristics.
  • The study emphasizes the importance of understanding management and follow-up strategies by reviewing relevant literature on similar cases.
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Facial Soft Tissue Lesions in Children.

Oral Maxillofac Surg Clin North Am

August 2024

Division of Dermatology, Department of Pediatrics, University of Washington School of Medicine, Seattle Children's Hospital, 4800 Sand Point Way Northeast, OC.9.833, Seattle, WA 98105, USA. Electronic address:

Article Synopsis
  • Facial soft tissue lesions in children can be classified as benign or malignant based on their structure or origin.
  • The review discusses common types of these lesions, including their appearance, progression, and treatment options.
  • It highlights specific considerations for managing soft tissue lesions located in the facial area.
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Article Synopsis
  • - Bardet-Biedl syndrome (BBS) is a rare genetic disorder that affects various body systems, causing symptoms like kidney problems, vision loss, obesity, and intellectual challenges, with no specific treatment available.
  • - A 4-year-old boy with BBS showed unusual symptoms including severe anemia and physical anomalies, and genetic testing confirmed a mutation in the MKKS gene; despite initial iron treatment, intravenous therapy was necessary for improvement.
  • - The case highlights the complexity and rarity of BBS, particularly in Arab populations, underlining the need for comprehensive care and genetic counseling to manage complications and prevent disease transmission in families.
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Article Synopsis
  • * A case study of an 11-year-old girl with NBCCS showed she had several OKCs, but her scans of the chest and brain were normal, and her dental structure indicated some jaw alignment issues.
  • * The treatment involved a careful plan that included a combination of procedures to minimize surgery and the chance of the cysts returning, which proved successful as she showed no recurrence or new cysts over a 32-month follow-up.
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