ALLMedicine™ Harlequin Ichthyosis Center
Research & Reviews 47 results
https://doi.org/10.1093/bjd/ljac015
The British Journal of Dermatology; Moss C, Roked F et. al.
Jan 24th, 2023 - Birth incidence and outcome of harlequin ichthyosis and collodion membrane in the UK and Ireland: a national 2-year prospective surveillance study.|2023|Moss C,Roked F,Davis PJ,Khan M,Tyler C,|
http://emedicine.medscape.com/article/1111300-overview
Apr 1st, 2022 - Practice Essentials Lamellar ichthyosis (LI) is an autosomal recessive disorder that is apparent at birth and is present throughout life. The newborn is born encased in a collodion membrane that sheds within 10-14 days. The shedding of the membran...
https://emedicine.medscape.com/article/1111300-overview
Apr 1st, 2022 - Practice Essentials Lamellar ichthyosis (LI) is an autosomal recessive disorder that is apparent at birth and is present throughout life. The newborn is born encased in a collodion membrane that sheds within 10-14 days. The shedding of the membran...
https://emedicine.medscape.com/article/1111300-print
Apr 1st, 2022 - Practice Essentials Lamellar ichthyosis (LI) is an autosomal recessive disorder that is apparent at birth and is present throughout life. The newborn is born encased in a collodion membrane that sheds within 10-14 days. The shedding of the membran...
https://doi.org/10.1093/hmg/ddab309
Human Molecular Genetics; Pilz R, Opálka L et. al.
Oct 24th, 2021 - Functional skin barrier requires sphingolipid homeostasis; 3-ketodihydrosphingosine reductase or KDSR is a key enzyme of sphingolipid anabolism catalyzing the reduction of 3-ketodihydrosphingosine to sphinganine. Biallelic mutations in the KDSR ge...
News 5 results
https://www.medscape.com/viewarticle/949188
Apr 13th, 2021 - For as many disorders of cornification and types of ichthyosis that have been shown to benefit from retinoids, a seemingly equal number have no data or show no improvement. According to a consensus statement published in the February issue of Pedi...
https://www.mdedge.com/dermatology/article/238473/pediatrics/despite-new-ichthyosis-treatment-recommendations-many
Doug Brunk
Apr 12th, 2021 - For as many disorders of cornification and types of ichthyosis that have been shown to benefit from retinoids, a seemingly equal number have no data or show no improvement. Dr.
https://www.medscape.com/viewarticle/945212
Feb 3rd, 2021 - Clinicians using systemic retinoids for treating ichthyosis and other disorders of cornification (DOC) in children and adolescents should aim for the lowest dose possible to balance therapeutic goals with acceptable toxicity levels, advised the au...
https://www.mdedge.com/pediatrics/article/143818/pediatrics/care-infants-ichthyosis-requires-all-hands-deck
Doug Brunk
Aug 2nd, 2017 - CHICAGO – The neonatal period and early infancy are especially critical for patients with ichthyosis, because compromised barrier function increases risk for morbidity and mortality. “There are minimal data presently to guide management of patient.
https://www.mdedge.com/dermatology/article/101997/genetic-pathways-part-1
Alyssa Daniel, MD
Aug 18th, 2015 - Review the PDF of the fact sheet on genetic pathways, with board-relevant, easy-to-review material. This fact sheet details some of the important pathways in dermatology and the clinical manifestations seen with these genetic derangements.