Results 31 to 40 of about 517,181 (258)

Isotretinoin Treatment for Autosomal Recessive Congenital Ichthyosis in a Golden Retriever. [PDF]

Vet Sci, 2022
Petak A, Šoštarić-Zuckermann IC, Hohšteter M, Lemo N.   +3 more
europepmc   +3 more sources

Lamellar congenital ichthyosis in practice of dermatologists

Vestnik Dermatologii i Venerologii, 2017
The paper describes 2 cases of congenital lamellar ichthyosis debuting state «collodion baby». Presented features of clinical manifestations: in newborn all skin is covered with a thin dry yellowish-brown film, resembling collodion, also ectropion and ...
S. V. Koshkin, T. V. Chermnykh, A. L. Evseeva, V. V. Ryabova, A. N. Ryabov   +4 more
doaj   +4 more sources

The Clinical Spectrum of Rare Inherited Ichthyosis in China: A Review of Thirty-five Cases [PDF]

Acta Dermato-Venereologica
Inherited ichthyosis comprises a spectrum of genetic disorders related to over 50 pathogenic genes. However, there are limited data summarizing the clinical and molecular characteristics of Chinese patients.
Ruiyu Xiang, Xin Huang, Yihe Liu, Shuya Sun, Di Hua, Ran Mo, Yong Yang, Zhiming Chen   +7 more
doaj   +2 more sources

A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis [PDF]

, 2012
Congenital ichthyoses are life-threatening conditions in humans. We describe here the identification and molecular characterization of a novel recessive mutation in mice that results in newborn lethality with severe congenital lamellar ichthyosis. Mutant
Jianning Tao, Maranke I. Koster, Wilbur R. Harrison, Jennifer L. Moran, David R. Beier, Dennis R. Roop, Paul A. Overbeek   +6 more
core   +10 more sources

A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2. [PDF]

Rev Paul Pediatr, 2023
Migliavacca MP, Fock RA, Almeida N, Cavalcanti T, Villela D, Perez ABA, Valle D, Wohler E, Sobreira NLM, Raskin S.   +9 more
europepmc   +3 more sources

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan [PDF]

Molecular Genetics & Genomic Medicine, 2019
Autosomal recessive congenital ichthyosis (ARCI) is a genetically and phenotypically heterogeneous skin disease, associated with defects in the skin permeability barrier.
Dulce Lima Cunha, O. Alakloby, R. Gruber, Naseebullah Kakar, J. Ahmad, Salem Alawbathani, R. Plank, K. Eckl, Birgit Krabichler, J. Altmüller, P. Nürnberg, J. Zschocke, G. Borck, M. Schmuth, A. Alabdulkareem, Kholood Abdulaziz Alnutaifi, H. Hennies   +16 more
semanticscholar   +5 more sources

Pathogenic Variants in the ABCA12 Gene Associated to Autosomal Recessive Congenital Ichthyosis: Report of an Attenuated Phenotype

European Medical Journal Dermatology
Congenital ichthyosis represents keratinisation disorders characterised by abnormal skin scaling across the entire body, leading to a red, denuded, and scaly appearance.
Gabriela Mantilla Beltrán, Ana María Navarro Pinilla, Diego Andrés Padilla Mantilla, Alfonso Suárez Camacho, Mónica Paola Novoa Candia   +4 more
doaj   +2 more sources

Developmental cataract in congenital ichthyosis. [PDF]

BMJ Case Rep, 2023
A teenage boy who was previously diagnosed to have congenital ichthyosis presented to the eye clinic with complaints of gradually decreasing vision in both eyes since childhood. The best-corrected distance visual acuity was 20/125 in the right eye and 20/40 in the left eye. Clinical examination revealed developmental cataracts in both eyes.
Dandekar P, Chaurasia S.
europepmc   +3 more sources

Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis. [PDF]

Int J Womens Dermatol
Zaouak A, Jouini W, Abdessalem G, Abdelhak S, Hammami H, Charfeddine C, Fenniche S.   +6 more
europepmc   +2 more sources

Cases of Congenital Ichthyosis and Umbilical Hemorrhage [PDF]

The Boston Medical and Surgical Journal
n ...
Augustus A. Gould
openalex   +4 more sources