Results 51 to 60 of about 5,312 (130)

Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]

, 2007
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
core  

Scabies in a 14‐year‐old girl with superficial epidermolytic ichthyosis

, 2021
20.500.12530/87892A 14-year-old girl who reported generalized scaling and hyperkeratosis since age 1 year presented with severe pruritus of several months' duration. Scabies mites were detected, and molecular genetic analysis subsequently revealed a rare
Sainz-Gaspar, Laura, Moreiras-Arias, Noelia, Pérez-Feal, Patricia, Nelmar Valentina Ortiz‐Cabrera, Angela Hernández‐Martín, Hernández-Martín, Angela, Ortiz-Cabrera, Nelmar Valentina, Patricia Pérez‐Feal, Vázquez-Osorio, Igor, Noelia Moreiras‐Arias, Igor Vázquez‐Osorio, Laura Sainz‐Gaspar   +11 more
core   +1 more source

Quality of life in Swedish children with congenital ichthyosis

Dermatology Reports, 2010
Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their ...
Agneta Gånemo
doaj   +1 more source

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis

Animal Genetics, Volume 57, Issue 1, February 2026.
Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Stefan J. Rietmann, Joseph Malatos, Vidhya Jagannathan, Tosso Leeb   +3 more
wiley   +1 more source

Canine ichthyosis [PDF]

, 2007
Ichthyosis includes a group of hereditary disorders affecting the process of corneogenesis, characterised by scaling of the skin with or without epidermal proliferation or dermal inflammation.
Emmanuel Bensignor, BENSIGNOR, Emmanuel, Eric Guaguère, GUAGUERE, Eric   +3 more
core   +1 more source

Prevalence of PNPLA1 Gene Mutation in 48 Breeding Golden Retriever Dogs

Veterinary Sciences, 2018
A non-epidermolytic ichthyosis has been identified in Golden Retrievers due to a variant in the PNPLA1 gene, and a genetic test is available to detect wild-type, heterozygous and homozygous dogs.
Lisa Graziano, Mauro Vasconi, Luisa Cornegliani   +2 more
doaj   +1 more source

A Rare Familial Case of Harlequin Ichthyosis in an Infant of a Diabetic Mother: A Diagnostic and Management Challenge in Low and Middle Income Settings

Clinical Case Reports, Volume 13, Issue 11, November 2025.
ABSTRACT Harlequin Ichthyosis (HI) is an extremely rare, autosomal recessive, and highly fatal condition in neonates. It is especially difficult to control in the low‐ and middle‐income countries (LMICs) due to the low rate of prenatal screening, cultural reluctance, and lack of access to neonatal intensive care.
Muhammad Zaeem, Ameer Hamza Mehmood Ul Hassan, Muhammad Hassaan Javaid, Muhammad Usman, Muhammad Ahmed, Muhammad Usama Naveed, Mohammad Yassin Al Aboud   +6 more
wiley   +1 more source

Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis [PDF]

, 2016
Twenty-six families with keratinopathic ichthyoses (epidermolytic ichthyosis, superficial epidermolytic ichthyosis or congenital reticular ichthyosiform erythroderma) were studied.
Schönbuchner, I., Bourrat, E., Hotz, A., Betz, Regina, C, Schoenbuchner, Ines, Schlipf, Nina, Stieler, Karola, Morice-Picard, Fanny, Oji, V., Oji, Vmzenz, Jonca, Nathalie, Fischer, Judith, Mazereeuw-Hautier, Juliette, Betz, R., Schönbuchner, Ines, Blume-Peytavi, U., Morice-Picard, F., Mazereeuw‐Hautier, J., Betz, Regina C., Oji, Vinzenz, Jonca, N., Schlipf, N., Markus, Susanne, Blume-Peytavi, Ulrike, Fischer, J., Hotz, Alrun, Markus, S., Bourrat, Emmanuelle, Mazereeuw-Hautier, J., Stieler, Karola Maria, Stieler, K.   +30 more
core   +1 more source

Ichthyosis associated with rickets in two Indian children

Indian Journal of Dermatology, 2013
We wish to report two cases of rickets due to vitamin D deficiency secondary to underlying ichthyotic skin disorder. The first case is of an 8-year-old male with history of multiple fluid-filled lesions over the body that would rupture to heal with ...
Dimple Kothari, Bhavana Doshi, Gaurav Garg, Uday S Khopkar   +3 more
doaj   +1 more source

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis

Italian Journal of Pediatrics, 2022
Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma.
Gregorio Serra, Luigi Memo, Paola Cavicchioli, Mario Cutrone, Mario Giuffrè, Maria Laura La Torre, Ingrid Anne Mandy Schierz, Giovanni Corsello   +7 more
doaj   +1 more source