Results 61 to 70 of about 4,068 (202)

Infarcted Melanocytic Nevus With a Hair Tourniquet

Journal of Cutaneous Pathology, EarlyView.
Aashish Batheja, Robert Bai, Joseph Gillam, Justin Haught, Mark Mochel   +4 more
wiley   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1608-1618, July 2026.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Bloom Syndrome Presenting With Early‐Onset Myelodysplastic Syndrome and Triple Overlapping Vascular Neurocutaneous Phenotypes: A Case Report

Clinical Case Reports, Volume 14, Issue 7, July 2026.
ABSTRACT Bloom syndrome is a rare autosomal recessive chromosomal instability disorder characterized by growth deficiency and early‐onset malignancies, and its coexistence with multiple vascular neurocutaneous syndromes is exceptionally uncommon. We report an 8‐year‐old girl who presented with severe growth failure and persistent pancytopenia.
Elham Shahgholi, Nahid Khosroshahi, Sara Sadeghi   +2 more
wiley   +1 more source

PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome [PDF]

, 2018
Basal cell nevus syndrome (BCNS) is an autosomal dominant disorder most commonly caused by a germline mutation in the PTCH1 gene. PTCH1 is known to have different isoforms with different functional properties and expression patterns among tissues.
Paulussen, Aimee D. C., Robbert-Jan C. A. M. Gielen, van Geel, Michel, Reinders, Marieke G. H. C., Michel van Geel, Marieke G. H. C. Reinders, Aimée D. C. Paulussen, Mosterd, Klara, Klara Mosterd, Koillinen, Hannele K., Hannele K. Koillinen, Gielen, Robbert-Jan C. A. M.   +11 more
core   +1 more source

Skin Cancer Predisposition Genes, Full‐Body Skin Examinations, Familial Disclosure, and Genetic Testing Among High‐Risk Individuals

International Journal of Dermatology, Volume 65, Issue 7, Page 1431-1441, July 2026.
ABSTRACT Background There is a lack of knowledge in full‐body skin examinations (FBSEs) in the context of pathogenic or likely pathogenic variants (PV/LPV) in skin cancer predisposition genes (CPGs). This study assessed the association between carrier status of PV/LPV in skin CPGs and FBSEs and described the patterns of family letter receipt, familial ...
Jincong Q. Freeman, Yu Matsui, Fangyuan Zhao, Olufunmilayo I. Olopade, Dezheng Huo   +4 more
wiley   +1 more source

Prosthodontic and Occlusal Management of a Patient With Facial Port‐Wine Stains: A Case Report

Clinical Case Reports, Volume 14, Issue 6, June 2026.
ABSTRACT This study aims to present the prosthetic rehabilitation of a patient affected by Port‐Wine Stain (PWS), a condition involving intraoral tissues that may pose challenges to removable prosthodontic treatment due to altered mucosal resiliency, pronounced hypersensitivity, and vascular fragility.
Ana‐Maria Condor, Daniela Cornelia Condor, Andreea Kui, Simona Iacob, Alexandra Tărchilă, Smaranda Buduru, Andrea Chisnoiu   +6 more
wiley   +1 more source

Ultrapulse CO2 Used for the Successful Treatment of Basal Cell Carcinomas Found in Patients with Basal Cell Nevus Syndrome

, 2002
background. Basal cell nevus syndrome (BCNS) is an inherited condition marked by multiple basal cell carcinomas (BCCs) associated with several other abnormalities. Various treatment modalities have been used to eradicate these tumors.
Trent, Jennifer T, Nouri, Keyvan, Jiménez, Gloria P, Chang, Attica   +3 more
core   +1 more source

A 51‐year‐old female presenting with headache and vision loss

Headache: The Journal of Head and Face Pain, EarlyView.
Laurel Ovrom, Zachary Pardieck, Randy Christopher Bowen, Neena R. Cherayil   +3 more
wiley   +1 more source

Syndrome PENS (papular epidermal nevus with “skyline” basal cell layer)

, 2015
International audienceBACKGROUND:PENS is a rare neuro-cutaneous syndrome that has been recently described. It involves one or more congenital epidermal hamartomas of the papular epidermal nevus with "skyline" basal cell layer type (PENS) as well as non ...
Bessis, D., Pernet, Charlotte, Munoz, J.
core   +1 more source

Medulloblastoma with Extensive Nodularity in a Child with Gorlin Syndrome - Case Report from Regional Cancer Centre

Clinical Pediatric Hematology-Oncology
Gorlin syndrome, also known as Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome (NBCCS), or basal cell nevus syndrome, is a rare autosomal dominant cancer predisposition disorder characterized by high penetrance and variable expressivity.
M. Vijay Krishnan, Appaji Lingegowda, Arun Kumar, Prakruthi S. Kaushik, Meena Haldorai, R. Nikila, Avinash Thummalapalli, T. M. Surekha   +7 more
doaj   +1 more source