Results 11 to 20 of about 10,016 (183)

Ichthyosis

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.
Carlos Gutiérrez-Cerrajero, Eli Sprecher, Amy S. Paller, Masashi Akiyama, Juliette Mazereeuw-Hautier, Angela Hernández-Martín, Rogelio González-Sarmiento   +6 more
openaire   +5 more sources

Distinguishing ichthyoses by protein profiling.

PLoS ONE, 2013
To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics.
Robert H Rice, Katie M Bradshaw, Blythe P Durbin-Johnson, David M Rocke, Richard A Eigenheer, Brett S Phinney, Matthias Schmuth, Robert Gruber   +7 more
doaj   +1 more source

Ocular complications of lamellar ichthyosis

Archives of Medicine and Health Sciences, 2018
Ichthyosis is a rare heterogeneous cutaneous disorder characterized by hyperkeratinization of the skin. They may be inherited or acquired following malnutrition, malignancy, or autoimmune disorders. Common forms of ichthyosis include lamellar ichthyosis (
Ibrahim Aliyu
doaj   +1 more source

BULLOUS ICHTHYOSIS [PDF]

British Journal of Dermatology, 1911
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Annular epidermolytic ichthyosis: a case report and literature review, [PDF]

Anais Brasileiros de Dermatologia, 2020
Annular epidermolytic ichthyosis is a rare subtype of epidermolytic ichthyosis that is characterized by erythematous, polycyclic, and migratory scaly plaques accompanied by palmoplantar keratoderma. This report presents the case of an 8-year-old girl who
Emanuella Stella Mikilita, Irina Paipilla Hernandez, Ana Letícia Boff, Ana Elisa Kiszewski   +3 more
doaj   +2 more sources

ON ICHTHYOSIS HYSTRIX [PDF]

British Journal of Dermatology, 1911
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Harlequin ichthyosis: A case image from Syria

Clinical Case Reports, 2022
Harlequin ichthyosis is a rare autosomal recessive congenital ichthyosis with a distinct phenotypic appearance. It associated with a high mortality rate and affects both sexes equally.
Jacob Al‐Dabbagh, Rajaa Daabool, Reem Hatem, Lina Al‐Soufi   +3 more
doaj   +1 more source

Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation

BMC Medical Genomics, 2022
Background Ichthyosis is a heterogeneous group of Mendelian cornification disorders that includes syndromic and non-syndromic forms. Autosomal Recessive Congenital Ichthyosis (ARCI) and Ichthyosis Linearis Circumflexa (ILC) belong to non-syndromic forms.
Mariem Ennouri, Andreas D. Zimmer, Emna Bahloul, Rim Chaabouni, Slaheddine Marrakchi, Hamida Turki, Faiza Fakhfakh, Noura Bougacha-Elleuch, Judith Fischer   +8 more
doaj   +1 more source

Ichthyosis hystrix

Indian Dermatology Online Journal, 2013
The present report describes the condition in a three day old male child with bilateral ,linear, hyperpigmented and hyperkeratotic verrucous plaques and patchy alopecia over scalpe without any nail and skeletal abnormalities. It was suggestive of ichthyosis hystrix type of epidermal nevus,and is being reported in view of the rarity of this condition.
Surajit Nayak, Basanti Acharjya, Prasenjit Mohanty   +2 more
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ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis. [PDF]

Vet Dermatol
ABSTRACT Background Ichthyosis fetalis (IF), also known as harlequin ichthyosis, is a rare and often fatal autosomal recessive congenital skin disorder. It is characterized by thickened, hard skin plaques and deep skin fissures that limit mobility and cause malformations of the eyes, lips and ears.
Blake JM, Swan MP, Ekenstedt KJ.
europepmc   +2 more sources