Results 171 to 180 of about 18,146 (216)

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

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

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

Ichthyosis Congenita

Archives of Pediatrics & Adolescent Medicine, 1957
A B, FALK, H S, TRAISMAN, G J, AHERN
openaire   +2 more sources

Acquired Ichthyosis

Journal of Cutaneous Medicine and Surgery, 2018
Daniel, Dalcin, Jennifer, Beecker
openaire   +2 more sources

Harlequin ichthyosis

The Indian Journal of Pediatrics, 2006
Sagori, Mukhopadhyay, Ramesh, Agarwal
openaire   +2 more sources

Congenital ichthyosis

The American Journal of Surgery, 1951
H P, LATTUADA, M S, PARKER
openaire   +2 more sources

Ichthyosis

Proceedings of the Royal Society of Medicine, 1949
openaire   +2 more sources

Ichthyosis Congenita

Archives of Ophthalmology, 1974
J A, Katowitz, E A, Yolles, M, Yanoff
openaire   +2 more sources