Zobrazeno 1 - 10
of 3 090
pro vyhledávání: '"Genodermatosis"'
Autor:
Lisa Dangreau, Mohammad J. Hosen, Julie De Zaeytijd, Bart P. Leroy, Paul J. Coucke, Olivier M. Vanakker
Publikováno v:
Current Issues in Molecular Biology, Vol 46, Iss 9, Pp 9998-10007 (2024)
Germline mosaicism in autosomal recessive disorders is considered a rare disease mechanism with important consequences for diagnosis and patient counseling. In this report, we present two families with PXE in which paternal germline mosaicism for an
Externí odkaz:
https://doaj.org/article/479cde1bfdb14a16b0132e744b3865e7
Autor:
Faris A. Alhomida, MD, Raghad Alharthi, MD, Ahmed Almutairi, MD, Dalal A. AlDosari, MD, Maee Barakeh, MD, Ahmed Dilli, MD, Maha Barakeh, MD, Asem Shadid, MD, Alhanouf Bin Dakhil, MD, Lamia AlAkrash, MD
Publikováno v:
JAAD Case Reports, Vol 51, Iss , Pp 45-47 (2024)
Externí odkaz:
https://doaj.org/article/6f7ca93927794f0fb3a0dae952692b61
Publikováno v:
JEADV Clinical Practice, Vol 3, Iss 2, Pp 611-615 (2024)
Abstract Background Epidermolysis bullosa (EB) is an inherited genodermatosis of variable severity characterised by skin and mucosal fragility commonly associated with altered gait patterns and hypermobility. Objectives To define the altered gait pat
Externí odkaz:
https://doaj.org/article/02899f2c01a84bcaad8bbdd7d6004800
Autor:
Retno Danarti, MD, Rudolf Happle, MD, Ani Rifko, MD, Agnes Rosarina Prita Sari, MSc, WenChieh Chen, MD
Publikováno v:
JAAD Case Reports, Vol 48, Iss , Pp 94-97 (2024)
Externí odkaz:
https://doaj.org/article/cf440c71f9364ea092fed042a8a4631a
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
ObjectiveEpidermolysis bullosa simplex (EBS) is a common, well-characterized type of epidermolysis bullosa. However, some rare syndromic EBS phenotypes are not well described. The accumulation of clinical descriptions of patients with syndromic subty
Externí odkaz:
https://doaj.org/article/60b260492c9d4a829e388f424688b6fe
Publikováno v:
Acta Dermato-Venereologica, Vol 104 (2024)
The MDHHgermany registry was initiated to characterize the “real-life” situation of affected individuals with Darier’s disease (DD; Morbus Darier, MD) and Hailey-Hailey disease (HH), including their treatment and healthcare. To gain deeper insi
Externí odkaz:
https://doaj.org/article/d4411358249746bb825525a59d2633f4
Publikováno v:
JAAD Case Reports, Vol 45, Iss , Pp 4-6 (2024)
Externí odkaz:
https://doaj.org/article/e2b230deb66143f9996172363e05b300
Publikováno v:
Global Medical Genetics, Vol 10, Iss 04, Pp 335-338 (2023)
Netherton syndrome is a rare, multisystem, autosomal recessive genodermatosis characterized by a triad of manifestations: congenital ichthyosis, immune dysregulation, and scalp anomalies. We report the case of a 1-month-old male infant evaluated for
Externí odkaz:
https://doaj.org/article/67bb2d2994f04682946f8405c96cf946
Publikováno v:
JAAD Case Reports, Vol 50, Iss , Pp 4-5 (2024)
Externí odkaz:
https://doaj.org/article/0c6d502c600446c9856f5a1939db2d03
Publikováno v:
Revista da Sociedade Portuguesa de Dermatologia e Venereologia, Vol 82, Iss 2 (2024)
Dowling-Degos disease (DDD) is an uncommon genodermatosis. The most closely associated disorder is Galli-Galli disease (GGD). Both conditions are considered on the same disease spectrum, with the differentiating factor being the presence of acantholy
Externí odkaz:
https://doaj.org/article/d1f405b3300345f4988907ead9591ab4