Zobrazeno 1 - 10
of 1 308
pro vyhledávání: '"café au lait"'
Publikováno v:
National Journal of Laboratory Medicine, Vol 13, Iss 03, Pp 07-10 (2024)
Neurofibroma is a benign peripheral nerve sheath tumour, and Plexiform Neurofibroma (PN) is pathognomonic of Neurofibromatosis Type 1 (NF1). It occurs equally in males and females and presents at birth or a very early age. The incidence is 1 in 2500
Externí odkaz:
https://doaj.org/article/31f672bde60040509e97c8c34469e461
Publikováno v:
Journal of Dermatological Treatment, Vol 35, Iss 1 (2024)
Background Infantile café au lait spot is a brown macule with various sizes (diameter: 0.5 cm–30 cm). Infantile giant café au lait spot (IGCALS) is a huge (diameter >20cm) irregular-shaped benign hyperpigmented skin disorder that arises in infant
Externí odkaz:
https://doaj.org/article/1d3312972fd749f0b0ade0e3f6d46c30
Type 1 Neurofibromatosis Sans Neurofibroma: A Case Report Emphasizing the Role of Ocular Examination
Autor:
Yogindher Singh, Sheela Kuruvila
Publikováno v:
Indian Journal of Paediatric Dermatology, Vol 25, Iss 3, Pp 234-236 (2024)
Neurofibromatosis type 1 (NF1) is one of the most common genetic disorders and is inherited in an autosomal dominant fashion. NF1 is a member of the RASopathies, a class of congenital disorders brought on by mutations in the Ras/mitogen-activated pro
Externí odkaz:
https://doaj.org/article/84e78104b7cf4067a4af714b8f2615a7
Publikováno v:
BMC Musculoskeletal Disorders, Vol 25, Iss 1, Pp 1-9 (2024)
Abstract Background Jaffe-Campanacci syndrome is a rare syndrome, characterized by multiple non-ossifying fibromas (NOF) and cafe-au-lait patches. The name was coined in 1982 by Mirra after Jaffe who first described the case in 1958. Although it’s
Externí odkaz:
https://doaj.org/article/bbfc176523854bd98e98b1a48bd6f731
Autor:
Svea Horn, Teresa Neuhann, Corina Hennig, Angela Abad-Perez, Eva-Christina Prott, Lisa Cardellini, Cornelia Potratz, Jonas Leubner, Birgit Eichhorn, Martin Merkel, Angela Abicht, Angela M. Kaindl
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Pathogenic variants in the leucine zipper-like transcriptional regulator 1 gene (LZTR1) have been identified in schwannomatosis and Noonan syndrome. Here, we expand the phenotype spectrum of LZTR1 variants. We identified four loss-of-function heteroz
Externí odkaz:
https://doaj.org/article/6dc50f93fd83419a92eba922b125fbf9
Autor:
Almuqbil M, Alshaikh FY, Altwaijri W, Baarmah D, Hommady RH, Alshaikh MY, Alammari F, Alhussain M, Almotawa R, Alqarni F, Kashgari A, Alkhodair R, Alkhater JN, Alkhater LN, Alharthi SA, Alsadi MA, AlRumayyan A
Publikováno v:
Journal of Multidisciplinary Healthcare, Vol Volume 17, Pp 1303-1314 (2024)
Mohammed Almuqbil,1– 3 Fatimah Yaseen Alshaikh,4 Waleed Altwaijri,1– 3 Duaa Baarmah,5 Raid Harb Hommady,2,3 Maryam Yaseen Alshaikh,1 Fares Alammari,6 Meshal Alhussain,7 Reem Almotawa,8 Faris Alqarni,9 Amna Kashgari,1,10 Rayan Alkhodair,1,2,11 Jum
Externí odkaz:
https://doaj.org/article/6613b881f4c6426e8656ea9a18e39a16
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 18, Iss 08, Pp 01-02 (2024)
A 45-year-old male patient presented to the department with the chief complaint of overhanging folds of loose skin over the nose and left eye, and various round swellings on the face and throughout the body. The swelling had appeared 15-20 years ago
Externí odkaz:
https://doaj.org/article/2aebae3f293e4bbba7dd5cb1b8aa755c
Publikováno v:
Acta Dermato-Venereologica, Vol 104 (2024)
Abstract is missing (Short communication)
Externí odkaz:
https://doaj.org/article/8e009e16936747faa1b6fcb6c9dedd1c
Publikováno v:
Bulletin of the National Research Centre, Vol 47, Iss 1, Pp 1-10 (2023)
Abstract Background The protein phosphatase 2 (PP2A) is one of the major serine/threonine phosphatases in humans. The most frequently reported pathogenic PP2A variants have been identified in PPP2R5D, encoding the regulatory subunit B’ delta, and a
Externí odkaz:
https://doaj.org/article/355f5540c12b47669aec37baa2f16ac2
Autor:
N. Dukuze, P. Sesonga, B. Iradukunda, H. irere, J. Ndinkabandi, C. Nsanzabaganwa, F. Rutagarama, C. Kagimbana, A. Uwineza, L. Mutesa
Publikováno v:
Rwanda Medical Journal, Vol 80, Iss 2, Pp 8-12 (2023)
Neurofibromatosis type 1 (NF1) is an autosomal dominant disease with a prevalence of about 1/3000. The clinical diagnosis of NF1 is based on the presence of two or more of the following criteria: six or more café au lait spots, >2 neurofibromas of
Externí odkaz:
https://doaj.org/article/48e6c2f0141d476a89f3f80d3c4adac1