Zobrazeno 1 - 10
of 715
pro vyhledávání: '"Harlequin Ichthyosis"'
Publikováno v:
GAIMS Journal of Medical Sciences, Vol 4, Iss 2, Pp 53-55 (2024)
Ichthyosis, derived from the Greek word "ichthys" meaning fish, encompasses various skin disorders characterized by dry, scaly, and thickened skin, often inherited through autosomal or X-linked modes. This case report discusses a rare and severe form
Externí odkaz:
https://doaj.org/article/19b1775b62f448828eb780b91b456a1e
Publikováno v:
International Journal of Biomedicine, Vol 14, Iss 1, Pp 182-186 (2024)
Harlequin ichthyosis (HI) is an extremely rare and severe genetic skin disorder characterized by thick, diamond-shaped scales covering the body, often giving the appearance of a harlequin costume. This paper provides an overview of the genetic and de
Externí odkaz:
https://doaj.org/article/2b662e6f51064a3b9b9eb223606a47ba
Autor:
Van Khanh Tran, Quang Minh Diep, Qiu Zilong, Le Thi Phuong, Hai Anh Tran, Nguyen Van Tung, Nguyen Thi Kim Lien, Nguyen Thi Xuan, Le Thi Ha, Thanh Van Ta, Thinh Huy Tran, Nguyen Huy Hoang
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundHarlequin ichthyosis (HI) is a severe rare genetic disease that mainly affects the skin. Neonates with this disease are born with thick skin and large diamond-shaped plates covering most of their bodies. Affected neonates lose the ability t
Externí odkaz:
https://doaj.org/article/ca519a899c2e4d529e2a60e94cf7f822
Autor:
Abhigan Babu Shrestha, Prince Biswas, Sajina Shrestha, Romana Riyaz, Muhammad Hassnain Nawaz, Shumneva Shrestha, Labiba Hossainy
Publikováno v:
Clinical Case Reports, Vol 10, Iss 12, Pp n/a-n/a (2022)
Abstract Harlequin ichthyosis is a rare autosomal recessive disorder occurring in 1: 3,000,000 birth characterized by thick keratin skin with a scaly appearance. Preterm deliveries, early, and consanguinity of marriage are some risk factors. Antenata
Externí odkaz:
https://doaj.org/article/49e823d58a7c4c4fbc0928e915d73088
Publikováno v:
Clinical Case Reports, Vol 10, Iss 10, Pp n/a-n/a (2022)
Abstract Harlequin ichthyosis is a rare autosomal recessive congenital ichthyosis with a distinct phenotypic appearance. It associated with a high mortality rate and affects both sexes equally. We report a harlequin fetus with a history of scalp psor
Externí odkaz:
https://doaj.org/article/2991a646d8ce42afbbab0a780d1adc02
Publikováno v:
GAIMS Journal of Medical Sciences, Vol 2, Iss 1, Pp 25-27 (2022)
Harlequin Icthyosis is the most severe form of congenital Icthyosis. It characteristically presents as large thickened plate like scaly skin lesions over whole body at the time of birth. Few patients survive beyond neonatal period. Mortality is due t
Externí odkaz:
https://doaj.org/article/d3ad1f53f05040509c4fc0e795fd9f2e
Autor:
Francesco Baldo, Michela Brena, Simone Carbogno, Francesca Minoia, Stefani Lanni, Sophie Guez, Antonella Petaccia, Carlo Agostoni, Rolando Cimaz, Giovanni Filocamo
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-7 (2021)
Abstract Background Harlequin ichthyosis (HI) is the most severe phenotype of autosomal recessive congenital ichthyosis. Juvenile Idiopathic Arthritis (JIA) represents a heterogenous group of disorders all sharing the clinical manifestation of chroni
Externí odkaz:
https://doaj.org/article/84b0673420f34e3ba53f8ac2db06296c
Publikováno v:
Indian Journal of Pathology and Microbiology, Vol 65, Iss 2, Pp 462-464 (2022)
Harlequin ichthyosis (HI) is the most severe type of congenital ichthyosis. It is extremely rare with very few cases reported in India. It is inherited in an autosomal recessive fashion. The importance of antenatal diagnosis by ultrasonography, DNA-b
Externí odkaz:
https://doaj.org/article/5e7f6447fb844b5ca81f68f4965c5acb
Autor:
Ruben D. Arias-Pérez, Salomón Gallego-Quintero, Natalia A. Taborda, Jorge E. Restrepo, Renato Zambrano-Cruz, William Tamayo-Agudelo, Patricia Bermúdez, Constanza Duque, Ismael Arroyave, Johanna A. Tejada-Moreno, Andrés Villegas-Lanau, Alejandro Mejía-García, Wildeman Zapata, Juan C. Hernandez, Gina Cuartas-Montoya
Publikováno v:
BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)
Abstract Background Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with erythroderma. Among its
Externí odkaz:
https://doaj.org/article/bc8ab21a829040508dd98bec230fe78e
Publikováno v:
Biomedical Journal, Vol 44, Iss 2, Pp 223-226 (2021)
Harlequin ichthyosis is a rare congenital disorder, which causes restrictive circumferential encasement of the trunk and limbs. Patients usually develop compartment syndrome and sequential cyanosis of limbs and digits, leading to autoamputation. We r
Externí odkaz:
https://doaj.org/article/08859c19f92944cbb7c268fc5a853a50