Results 261 to 270 of about 29,876 (307)
Brownish-Black Crusts and Erosions all Over the Body. [PDF]
Mishra J, Bhoi A, Dash S.
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Adult-Onset Acquired Ichthyosis Revealing an Underlying Colon Adenocarcinoma. [PDF]
El Gemayel M+6 more
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Neuroichthyosis With a De Novo Variant c.494C>T in ELOVL1 and Severe Pruritus Relieved by Dupilumab. [PDF]
Marcoux D+4 more
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Nature Reviews Disease Primers, 2023
This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature's AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections.
C. Gutiérrez-Cerrajero+6 more
semanticscholar +4 more sources
This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature's AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections.
C. Gutiérrez-Cerrajero+6 more
semanticscholar +4 more sources
JAMA Dermatology, 2023
This case report describes a patient in her 30s who was born with ichthyosis who presented with plate-like scale that covered her whole body as well as ectropion.
Yi-Cheng, Wu, Qiang, Yao
openaire +2 more sources
This case report describes a patient in her 30s who was born with ichthyosis who presented with plate-like scale that covered her whole body as well as ectropion.
Yi-Cheng, Wu, Qiang, Yao
openaire +2 more sources
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+36 more
semanticscholar +1 more source
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+36 more
semanticscholar +1 more source
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+8 more
semanticscholar +1 more source
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+8 more
semanticscholar +1 more source
British Journal of Dermatology, 1983
We describe four patients with congenital follicular hyperkeratosis, of whom three also had pseudoacanthosis nigricans and two had facial abnormalities. Skin specimens were studied by light microscopy, autoradiography, histochemistry and scanning electron microscopy, and the results were compared with those from patients with keratosis pilaris.
M, Hazell, R, Marks
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We describe four patients with congenital follicular hyperkeratosis, of whom three also had pseudoacanthosis nigricans and two had facial abnormalities. Skin specimens were studied by light microscopy, autoradiography, histochemistry and scanning electron microscopy, and the results were compared with those from patients with keratosis pilaris.
M, Hazell, R, Marks
openaire +2 more sources
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+4 more
semanticscholar +1 more source
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+4 more
semanticscholar +1 more source