Zobrazeno 1 - 10
of 487
pro vyhledávání: '"Epidermal nevus syndrome"'
Autor:
Margarita Dionysiou, Stavriani C. Makri, Shivani Ahlawat, Melike Guryildirim, Kristin W. Barañano, Mari L. Groves, Pedram Argani, Christine A. Pratilas
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
The RASopathies, collectively, are a spectrum of genetic syndromes caused by mutations in genes involved in the RAS/ mitogen-activated protein kinase (MAPK) pathway, including but not limited to PTPN11, NRAS, KRAS, HRAS, BRAF, and MAP2K1. Recognized
Externí odkaz:
https://doaj.org/article/1276b5df977e4efbbf6f69fcda642fbb
Publikováno v:
Journal of Medical Case Reports, Vol 16, Iss 1, Pp 1-5 (2022)
Abstract Background Epidermal nevus syndrome is a group of congenital neuroectodermal and/or mesodermal disorders characterized by the epidermal nevi in common association with cerebral, eye, skeletal, cardiovascular, and renal abnormalities. Epiderm
Externí odkaz:
https://doaj.org/article/7e678b235a8d4faea096352d287fd8bd
Publikováno v:
Chinese Journal of Plastic and Reconstructive Surgery, Vol 4, Iss 2, Pp 91-96 (2022)
An epidermal nevus (EN) is a common disease of various types, including verrucous EN, nevus sebaceous, inflammatory linear verrucous EN, Becker nevus, smooth muscle hamartoma, and nevus comedonicus. EN syndrome is a serious and difficult-to-treat syn
Externí odkaz:
https://doaj.org/article/7eb4181b0a55440a84fae0af90ad90d2
Publikováno v:
Bone Reports, Vol 17, Iss , Pp 101605- (2022)
Epidermal Nevus Syndrome (ENS), also known as Cutaneous Skeletal Hypophosphatemia Syndrome or Linear Sebaceous Nevus Syndrome, is caused by a mosaic somatic mutation of RAS (Rat Sarcoma genes) which leads to abnormally elevated levels of fibroblast g
Externí odkaz:
https://doaj.org/article/b366f71820854e00b625e2ec7ef684be
Akademický článek
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Autor:
Chonin Kuok, Kwaiyu Chan
Publikováno v:
Pediatric Reports, Vol 13, Iss 2, Pp 203-209 (2021)
Linear nevus sebaceous syndrome (LNSS) is a rare neurocutaneous disorder. It is characterized by the presence of nevus sebaceous, ocular anomalies, neurological deficits, and convulsion. Renal involvement was not commonly reported. We report a 10-yea
Externí odkaz:
https://doaj.org/article/b8da9aefe59a4e56b19bcf162058532c
Publikováno v:
Case Reports in Dermatology, Vol 13, Iss 1, Pp 195-201 (2021)
We present a rare case of KRAS keratinocytic epidermal nevus syndrome with lymphatic malformation, responsive to treatment with sirolimus, an mTOR inhibitor. A brief review of the current literature regarding sirolimus use in vascular malformations,
Externí odkaz:
https://doaj.org/article/98072e49ce504f368f75c50ad04b907d
Autor:
Merz, Lea Maria, Bürger, Florian, Ziegelasch, Niels, Zenker, Martin, Wieland, Ilse, Lipek, Tobias, Wallborn, Tillmann, Terliesner, Nicolas, Prenzel, Freerk, Siekmeyer, Manuela, Dittrich, Katalin
Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS) constitutes
Externí odkaz:
https://ul.qucosa.de/id/qucosa%3A85821
https://ul.qucosa.de/api/qucosa%3A85821/attachment/ATT-0/
https://ul.qucosa.de/api/qucosa%3A85821/attachment/ATT-0/
Autor:
Lea Maria Merz, Florian Buerger, Niels Ziegelasch, Martin Zenker, Ilse Wieland, Tobias Lipek, Tillmann Wallborn, Nicolas Terliesner, Freerk Prenzel, Manuela Siekmeyer, Katalin Dittrich
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS) constitutes
Externí odkaz:
https://doaj.org/article/219374aca3734a2791dc9d90aa316406
Publikováno v:
Türk Oftalmoloji Dergisi, Vol 51, Iss 4, Pp 243-245 (2021)
29-year-old woman presented with dark-colored raised lesions on both eyelids since early childhood. Ophthalmological examination revealed pigmented verrucous lesions on her upper and lower eyelids bilaterally. The patient had a history of generalized
Externí odkaz:
https://doaj.org/article/8b387afd56864247a89ba5086d1bddde