Zobrazeno 1 - 10
of 1 212
pro vyhledávání: '"poikiloderma"'
Autor:
Atheer Al Haddabi, BMBS, MRCP, Ghulam Mufti, DM, FRCPath, OBE, Anthony du Vivier, MD, Tanya Nandini Basu, MA, PhD
Publikováno v:
JAAD Case Reports, Vol 48, Iss , Pp 26-29 (2024)
Externí odkaz:
https://doaj.org/article/10f3a556205d4f689841c4e22d9c24fa
Autor:
Dilara Bulut Gökten, Rıdvan Mercan
Publikováno v:
Romanian Medical Journal, Vol 71, Iss 1, Pp 55-58 (2024)
Rothmund-Thomson syndrome (RTS), also known as congenital poikiloderma, is a genodermatosis that appears in infancy and is characterized by poikilodermatous changes in the skin. It is a very rare and complex genetic disorder that can present with a w
Externí odkaz:
https://doaj.org/article/819d96c9a7474bacb4194f48de5df75c
Publikováno v:
Frontiers in Aging, Vol 4 (2023)
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by a range of clinical symptoms, including poikiloderma, juvenile cataracts, short stature, sparse hair, eyebrows/eyelashes, nail dysplasia, and skeletal abnormaliti
Externí odkaz:
https://doaj.org/article/ca5a7a522fa8474094eb653a88da810c
Publikováno v:
Indian Journal of Paediatric Dermatology, Vol 24, Iss 4, Pp 307-310 (2023)
Acrogeria is a rare, nonhereditary genetic syndrome that presents with nonprogressive atrophy of the skin of the distal extremities, giving it an aged appearance. The patients have characteristic facies with pinched faces, an “owl-eyed” appearanc
Externí odkaz:
https://doaj.org/article/9b978bb352f0463ba1fe139e4985582f
Autor:
Ahmed Uslu, Nedim Çekmen
Publikováno v:
Bali Journal of Anesthesiology, Vol 7, Iss 1, Pp 43-46 (2023)
Rothmund-Thomson Syndrome (RTS) is a rare, multisystem disease accompanied by many anomalies that require careful attention from preoperative evaluation to discharge regarding anesthesia preparation and management. Due to craniofacial deformities acc
Externí odkaz:
https://doaj.org/article/d76bdbd2f61f4ddcb7a164c5437bee6e
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 23, Iss 1, Pp 1-7 (2022)
Abstract Background Mutations of the human FAM111B gene are associated with hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis (POIKTMP), a rare and autosomal dominant multi-systemic fibrosing disease. To date
Externí odkaz:
https://doaj.org/article/65b4216de284407a82dc9c8f4354de47
Publikováno v:
Drugs in Context, Vol 11, Pp 1-17 (2022)
Background: Early recognition of xeroderma pigmentosum is important to minimize the complications arising from the harmful effects of exposure to ultraviolet radiation. This narrative review aims to familiarize physicians with the clinical features,
Externí odkaz:
https://doaj.org/article/80418d3694c241708c4649df78051444
Autor:
Alexander Katoulis, Dimitrios Sgouros, Evangelia Bozi, Georgia Pappa, Sofia Theotokoglou, Marie Pauline Konstantinou, Alexandra Voudouri, Maria Voudouri, Melpomeni Theofili, Korina Tzima, Rainer Hofmann-Wellenhof
Publikováno v:
Dermatology Practical & Conceptual, Vol 13, Iss 1 (2023)
Introduction: Poikiloderma of Civatte (PC) is a common, acquired, chronic, benign poikiloderma of the neck and face, most commonly affecting menopausal females. Until the day of writing, few have been published regarding dermoscopy of PC. Objectiv
Externí odkaz:
https://doaj.org/article/7fc1dfb810474421ba50eefb14ecf588
Publikováno v:
Indian Journal of Paediatric Dermatology, Vol 23, Iss 4, Pp 322-324 (2022)
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous mutations in RECQL4 gene and has characteristic clinical features of poikiloderma, congenital bone defects, gastrointestinal disturba
Externí odkaz:
https://doaj.org/article/52f1981c201740c4854bb3d0454609aa
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Congenital poikiloderma is an extremely rare autosomal dominant genetic syndrome, characterized by a combination of early onset poikiloderma, telangiectasia, and epidermal atrophy. FAM111B gene with multiple mutations has been identified as a potenti
Externí odkaz:
https://doaj.org/article/7d11f094060e4a3fbdcbaa8b79263e6b