800 results match your criteria: "Trichoepithelioma"
Familiar cylindromatosis in a Colombian family caused by a mutation in CYLD.
Ecancermedicalscience
September 2024
Department of Human Genetics, Fundación Valle del Lili, Cali 760026, Colombia.
Article Synopsis
- The CYLD cutaneous syndrome leads to multiple skin tumors like cylindromas and spiradenomas, primarily affecting the face and head, with more frequent occurrence in women.
- A Colombian family spanning three generations showcased early onset of this syndrome, confirmed by genetic analysis identifying a specific variant in the CYLD gene.
- Understanding the genetic and environmental factors behind the syndrome is vital for developing better treatments and enhancing patient care.
Case report: Multiple facial trichoepitheliomas caused by p.Val835SerfsTer52 variant of gene.
Front Med (Lausanne)
September 2024
Center for Precision Genome Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia.
Article Synopsis
- Brooke-Spiegler syndrome (BSS) is an autosomal dominant condition linked to a gene mutation, leading to the formation of multiple benign skin tumors known as trichoepitheliomas.
- A case study reveals a young female with a previously unknown mutation (c.2501dupC) causing this syndrome, which was confirmed through genetic testing involving her family.
- Despite surgical removal of some tumors using a CO laser, new lesions continued to emerge, suggesting that current treatments are inadequate and highlighting the need for future targeted therapies not currently available.
Pigmented basal cell carcinoma mimicking nodular melanoma.
BMJ Case Rep
September 2024
Department of Pathology, JSS Academy of Higher Education and Research, Mysore, Karnataka, India.
Article Synopsis
- Basal cell carcinoma (BCC) is the most common type of primary skin cancer, with pigmented BCC being a rare variant that can resemble nodular melanoma (NM).
- A case is presented involving a 40-something woman with a hyperpigmented nodule on her cheek that looked like pigmented NM, but dermoscopy revealed distinct features.
- After initial biopsy showed signs of trichoepithelioma, complete excision confirmed it was pigmented BCC; awareness of this rare presentation is essential for proper diagnosis and management, especially in dark-skinned patients.
Multiple Trichoepitheliomas: A Disfiguring Lesion Successfully Treated with Excision and Skin Grafting.
West Afr J Med
April 2024
Department of Surgery, Faculty of Clinical Sciences, College of Medicine. University of Ibadan. Ibadan. Nigeria.
Background: Multiple trichoepitheliomas are rare benign adnexal tumours that present a unique challenge both to the patient and the managing physician. The multiple nature of the lesion and face being a common location often causes cosmetic concern and psychosocial challenges. Physicians on the other hand face the challenge of providing an ideal treatment with a satisfactory outcome.
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- Infiltrative basal cell carcinoma (iBCC) and desmoplastic trichoepithelioma (DTE) can occur together in the same skin lesion, which is a rare situation.
- While iBCCs are common malignant tumors that can cause local damage and have a chance of recurring, DTEs are benign tumors that develop from hair follicles and can appear similar to iBCCs.
- A case study of a 36-year-old woman with a cheek lesion containing both an iBCC and a DTE highlights the need to differentiate between these tumors due to their differing risks, along with a literature review pointing out the rarity of such combined tumors and possible genetic connections.
A novel missense pathogenic variant in the CYLD gene in a Chinese family with multiple familial trichoepithelioma.
Int J Dermatol
October 2024
Department of Dermatology, The Children's Hospital of Fudan University, Shanghai, China.
A Misdiagnosed Familiar Brooke-Spiegler Syndrome: Case Report and Review of the Literature.
J Clin Med
April 2024
Clinic of Plastic Surgery, Neurosciences Department, University of Padua, 35131 Padua, Italy.
Article Synopsis
- Brooke-Spiegler syndrome (BSS) is a rare genetic condition that leads to the development of specific skin tumors, starting in early adulthood and increasing in frequency and size over time.
- This report discusses the challenges in differentiating BSS from neurofibromatosis type 1 (NF1), emphasizing the need for clear diagnostic criteria and effective treatment strategies.
- A case study is presented involving a 28-year-old male with a misdiagnosis of NF1, ultimately confirmed as BSS through familial and clinical analysis, highlighting the importance of thorough family history evaluations in diagnosis.
Pathological, histochemical, and immune-histochemical studies on some canine-skin neoplasm at Sharkia province, Egypt.
Open Vet J
January 2024
Department of Pathology, Faculty of Veterinary Medicine, Zagazig University, Zagazig, Egypt.
Article Synopsis
- The study investigates skin tumors in dogs, focusing on their clinical, pathological, and immunohistochemical characteristics, conducted at Zagazig University's veterinary clinic from March 2022 to October 2023.
- A total of 25 dogs with skin swelling were analyzed, revealing that 65.52% of the tumors were malignant, with malignant melanomas being the most common at 17.24%.
- The research highlights the prevalence of various skin neoplasias in dogs, identifying multiple types of tumors while noting that benign tumors were less frequent.
A Systematic Review of the Epidemiology, Clinical Characteristics, Treatment, and Outcomes for Desmoplastic Trichoepithelioma: Underscoring Mohs Micrographic Surgery in Management.
Dermatol Surg
August 2024
Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, Texas.
Article Synopsis
- Desmoplastic trichoepithelioma (DTE) is a rare benign skin tumor that can look like malignant conditions, making diagnosis challenging.
- A systematic review of 338 DTE cases highlighted that Mohs micrographic surgery (MMS) showed a 0% recurrence rate, significantly outperforming other treatments like standard excision (13.1% recurrence) and electrosurgery (2.1%).
- The findings suggest that MMS is the best option for treating DTEs, especially since these tumors are often located in sensitive cosmetic areas.
Expression of Early Growth Response 3 in Skin Cancers.
Appl Immunohistochem Mol Morphol
April 2024
Department of Dermatology, the First Affiliated Hospital of Chongqing Medical University, Chongqing, China.
Article Synopsis
- - The study aimed to evaluate the expression of EGR3 in normal skin and various skin tumors, including cutaneous squamous cell carcinoma (cSCC), basal cell carcinoma (BCC), melanoma (MM), and others, highlighting its potential role in tumor growth and differentiation.
- - EGR3 was found to be present in the granular layer of normal skin and specific structures like sebaceous glands and hair follicles, while it was absent in sweat glands; in tumors, it was positively expressed in BCC, sebaceous carcinoma, and trichoepithelioma, but not in cSCC, melanoma, or clear cell hidradenoma.
- - The results indicate that EGR3's distinct expression pattern could aid in differentiating
A novel splicing CYLD variant associated with trichoepithelioma papulosum multiplex demonstrating intrafamilial severity variability.
J Dermatol
August 2024
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Multiple familial trichoepithelioma: report of a disfiguring case.
An Bras Dermatol
April 2024
Service of Dermatology, Complexo Hospitalar Padre Bento de Guarulhos, Guarulhos, SP, Brazil.
Pigmented Trichoepitheliomas, Not an Uncommon Variant: A Dermoscopical Insight.
Dermatol Pract Concept
January 2024
Dermatology Unit, Department of Mental and Physical Health and Preventive Medicine, University of Campania Luigi Vanvitelli, Naples, Italy.
Differentiation and risk stratification of basal cell carcinoma with deep learning on histopathologic images and measuring nuclei and tumor microenvironment features.
Skin Res Technol
January 2024
Department of Dermatopathology, Hospital for Skin Diseases, Institute of Dermatology, Chinese Academy of Medical Sciences & Peking Union Medical College, Nanjing, Jiangsu, China.
Article Synopsis
- The study investigates the role of nuclear characteristics and the tumor microenvironment (TME) in differentiating basal cell carcinoma (BCC) from trichoepithelioma (TE) and categorizing BCC into high-risk (HR) and low-risk (LR) types.
- An automated deep learning workflow was developed, training on 161 H&E-stained tissue sections, achieving high performance in tumor region identification and risk stratification; the MSA-U-Net model showed precision of 0.910 and the differentiation classifier had AUC values of around 0.977 across datasets.
- Key features distinguishing BCC from TE included various nuclear and TME metrics such as homogeneity and elongation
Fibroblast Growth Factor Receptor 2 Overexpression in Multiple Familial Trichoepithelioma.
Am J Dermatopathol
January 2024
Unidad de Gestión Clínica de Dermatología Médico-Quirúrgica y Venereología, Hospital Universitario Puerta del Mar, Cádiz, España.
A Lesion on the "King of Kings": Neurofibromas in the Parthian Empire's Arsacid Dynasty.
Cureus
September 2023
Emergency, Penn State Health Milton S. Hershey Medical Center, Hershey, USA.
Article Synopsis
- * Several theories have been proposed to explain this appearance, including conditions like basal cell carcinoma and hereditary trichoepithelioma.
- * The authors of the paper suggest that the lesions might actually represent neurofibromas linked to Neurofibromatosis 1, which is a genetic disorder passed down in families.
Trichoepithelioma and tattooing: a causal or casual relationship?
Skin Res Technol
October 2023
Unit of Dermatology, University of Pisa, Pisa, Italy.
Basal Cell Carcinoma Overlying a Trichoepithelioma: An Unusual Collision Tumour of the Scalp.
Indian J Dermatol
January 2023
Department of Plastic and Reconstructive Surgery, Kangwon National University Hospital, Chuncheon, Republic of Korea.
Article Synopsis
- A rare case of a slow-growing retro-auricular panfolliculoma in a 70-year-old woman was reported, initially biopsied to rule out basal cell carcinoma.
- Histopathology confirmed it as a benign follicular tumor with features of all hair follicle segments, demonstrating no signs of malignancy.
- The tumor was successfully excised and has not recurred, highlighting the benign nature of panfolliculomas and their differentiation from other skin tumors.
Multiple Trichoepithelioma Syndrome: A Case Report.
Cureus
August 2023
Plastic, Reconstructive, and Maxillofacial Surgery, Centro Hospitalar de Lisboa Ocidental, Lisbon, PRT.
Article Synopsis
- - Multiple trichoepithelioma syndrome is a rare skin condition characterized by multiple benign skin lesions, typically requiring surgical excision for treatment, with diagnosis usually confirmed after pathology tests.
- - In a specific case, a 36-year-old male patient visited a clinic for the first time, presenting with numerous skin lesions on his head and neck, leading to surgical intervention and consistent pathology results showing trichoepitheliomas without other types of tumors.
- - The patient's tumors were larger and involved critical areas of the face, necessitating a more intricate surgical approach rather than the simple excision commonly performed for smaller lesions.
Morpheaform basal cell carcinoma of the nasal ala associated with multiple familial trichoepithelioma reconstructed by anterolateral thigh flap: a case report.
Case Reports Plast Surg Hand Surg
August 2023
Department of Plastic and Reconstructive Surgery, Kansai Medical University, Osaka, Japan.
Article Synopsis
- - The patient had a significant skin issue on the right nasal ala, found to be morpheaform basal cell carcinoma alongside a genetic condition called Brooke-Spiegler syndrome that causes multiple trichoepitheliomas.
- - Following extensive surgery to remove the cancerous tissue, the defect on the right side of the face was reconstructed using a specialized skin flap from the thigh area known as an anterolateral thigh (ALT) flap.
- - This surgical approach not only restored function but also resulted in a satisfying cosmetic outcome for the patient.
Detection of sebaceous gland hyperplasia with dermoscopy and reflectance confocal microscopy.
Front Med (Lausanne)
June 2023
Dermatology Hospital, Southern Medical University, Guangzhou, Guangdong, China.
Article Synopsis
- Sebaceous gland hyperplasia (SGH) is a benign skin condition common in older adults, usually appearing as soft papules on the face or neck, but can mimic other skin tumors.
- The study examined 31 patients with SGH, using dermoscopy and reflectance confocal microscopy (RCM) to identify specific imaging features.
- Results showed distinct dermoscopic patterns and RCM findings, suggesting these non-invasive methods can aid in the accurate diagnosis of SGH.
TRPS1: A Marker of Follicular Differentiation.
Dermatopathology (Basel)
June 2023
Department of Pathology and Laboratory Medicine, University of Rochester Medical Center, Rochester, NY 14642, USA.
Article Synopsis
- The study focuses on the use of the TRPS1 immunohistochemical stain as a marker for breast carcinomas and evaluates its expression in skin tumors with follicular characteristics, such as trichoblastoma, trichoepithelioma, and basal cell carcinoma.
- Researchers conducted IHC studies on 13 trichoblastomas, 15 trichoepitheliomas, and 15 basal cell carcinomas, revealing that trichoblastomas and trichoepitheliomas exhibited higher TRPS1 positivity compared to basal cell carcinomas.
- Additionally, TRPS1 staining patterns showed unique mesenchymal cell behaviors in trichoblastomas and trichoepitheliomas, suggesting that TRPS1 could serve