Results 261 to 270 of about 31,665 (304)

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

British Journal of Dermatology, 2019
Recessive forms of congenital ichthyosis encompass a group of rare inherited disorders of keratinization leading to dry, scaly skin. So far, 13 genes have been implicated, but there is a paucity of data on genotype–phenotype correlation in some ...
J. K. Simpson, J. K. Simpson, M. Martinez-Queipo, A. Onoufriadis, S. Tso, S. Tso, E. Glass, L. Liu, T. Higashino, W. Scott, C. Tierney, Michael A. Simpson, R. Desomchoke, L. Youssefian, L. Youssefian, A. Saeidian, H. Vahidnezhad, H. Vahidnezhad, A. Bisquera, J. Ravenscroft, C. Moss, Edel.A. O’Toole, N. Burrows, S. Leech, E. Jones, E. Jones, D. Lim, A. Ilchyshyn, N. Goldstraw, M. Cork, S. Darne, Jouni Uitto, Anna E. Martinez, J. Mellerio, J. Mellerio, John A. McGrath, John A. McGrath   +36 more
semanticscholar   +1 more source

Next‐generation sequencing through multi‐gene panel testing for diagnosis of hereditary ichthyosis in Chinese

Clinical Genetics, 2020
Inherited ichthyoses are a heterogeneous group of rare disorders related to over 40 genes. To identify underlying molecular causes in inherited ichthyosis among Chinese and to correlate genotype and phenotype, 35 probands clinically diagnosed inherited ...
R. Cheng, Jianying Liang, Yue Li, Jia Zhang, C. Ni, Hong Yu, X. Kong, Ming Li, Z. Yao   +8 more
semanticscholar   +1 more source

Acquired ichthyosis

Journal of the American Academy of Dermatology, 2006
Acquired ichthyosis (AI) is a nonhereditary cutaneous disorder characterized by dry, rough skin with prominent scaling that involves significant portions of the body. It has been associated with malignancies; autoimmune/inflammatory, metabolic, endocrine, and infectious diseases; and medication use. Most microscopic studies of AI exhibit hyperkeratosis
Nisha, Patel, Lori A, Spencer, Joseph C, English, Matthew J, Zirwas   +3 more
openaire   +2 more sources

Autosomal recessive congenital ichthyosis due to homozygous variants in NIPAL4 with a dramatic response to ustekinumab

Pediatric dermatology, 2019
Autosomal recessive congenital ichthyosis is a genetically and phenotypically heterogenous group of scaling skin disorders. We describe a patient with ARCI caused by homozygous variants in NIPAL4, in whom the dermatologic phenotype and an associated ...
C. Poulton, D. Gration, K. Murray, Gareth Baynam, A. Halbert   +4 more
semanticscholar   +1 more source

X‐linked ichthyosis: Clinical and molecular findings in 35 Italian patients

Experimental Dermatology, 2018
Recessive X‐linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. A complete deletion of the STS gene is found in 85%‐90% of cases.
A. Diociaiuti, A. Angioni, E. Pisaneschi, V. Alesi, G. Zambruno, A. Novelli, M. El Hachem   +6 more
semanticscholar   +1 more source

Evidence of the high prevalence of neurological disorders in nonsyndromic X‐linked recessive ichthyosis: a retrospective case series

British Journal of Dermatology, 2018
X‐linked recessive ichthyosis (XLI) is a relatively common type of ichthyosis caused by a deficiency in the steroid sulfatase (STS) enzyme. It is the only type of ichthyosis that can be both syndromic and nonsyndromic.
B. Rodrigo‐Nicolás, E. Bueno-Martínez, A. Martín-Santiago, J. Cañueto, A. Vicente, A. Torrelo, L. Noguera‐Morel, A. Duat-Rodríguez, C. Jorge-Finnigan, I. Palacios‐Álvarez, J. García-Hernández, D. Sebaratnam, R. González-Sarmiento, Á. Hernández-Martín   +13 more
semanticscholar   +1 more source

Secukinumab responses vary across the spectrum of congenital ichthyosis in adults

Archives of Dermatological Research, 2022
R. Lefferdink, S. Rangel, M. Chima, E. Ibler, A. Pavel, Heejong Kim, Benedict Wu, H. Abu-Zayed, Jianni Wu, K. Jackson, Giselle K. Singer, K. Choate, E. Guttman‐Yassky, A. Paller   +13 more
semanticscholar   +1 more source

Non‐invasive analysis of skin mechanical properties in patients with lamellar ichthyosis

Skin research and technology, 2019
Reliable methods for the quantitative evaluation of skin of patients with ichthyosis are critically needed. Our purpose was to evaluate the biomechanical parameters of skin in a cohort of patients with clinically diagnosed lamellar ichthyosis.
H. Cortés, J. Magaña, O. Reyes-Hernández, Noé Zacaula-Juárez, M. González-Torres, Wendy Diaz-Beltrán, María C León-Trejo, Lizbeth Cariño-Calvo, G. Leyva-Gómez, Manuel González-Del Carmen   +9 more
semanticscholar   +1 more source

An ABCA12 missense variant in a Shorthorn calf with ichthyosis fetalis.

Animal Genetics, 2019
Two clinical forms of ichthyosis in cattle have been reported, ichthyosis fetalis and congenital ichthyosis. Ichthyosis poses animal welfare and economic issues and the more severe form, ichthyosis fetalis, is lethal.
S. Woolley, K. M. Eager, I. Häfliger, A. Bauer, Cord Drögemüller, Tosso Leeb, B. O’Rourke, I. Tammen   +7 more
semanticscholar   +1 more source

Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis

Journal of dermatology (Print), 2018
TGM1 is the most common gene responsible for lamellar ichthyosis. Previous studies have suggested that patients with lamellar ichthyosis carrying two missense mutations in TGM1 show significantly less severe phenotypes than those with at least one ...
M. Takeda, T. Nomura, Takato Sugiyama, T. Miyauchi, Shotaro Suzuki, Y. Fujita, H. Shimizu   +6 more
semanticscholar   +1 more source