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Fibroblast Growth Factor Receptor 2 Variants in Schimmelpenning-Feuerstein-Mims Syndrome.
Br J Dermatol
January 2025
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China.
Mosaic KRAS Mutation in Schimmelpenning-Feuerstein-Mims Syndrome With Overlapping Oculoectodermal Syndrome and Encephalocraniocutaneous Lipomatosis Features.
Pediatr Dermatol
December 2024
Department of Dermatology and Allergology, ERN-Skin Reference Center, Skin and Allergy Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
We report a patient with clinically confirmed Schimmelpenning-Feuerstein-Mims (SFM) syndrome but many overlapping features with oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL). Whole exome sequencing revealed a mosaic KRAS c.436G>A, p.
View Article and Find Full Text PDFOral 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.
Inflammatory Linear Verrucous Epidermal Naevus Patient Treated Successfully with Low-Dose Acitretin.
Skinmed
September 2024
Department of Dermatology & STD, Vardhman Mahavir Medical College & Safdarjung Hospital, New Delhi, India;
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