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About 105 results

ALLMedicine™ Harlequin Ichthyosis Center

Research & Reviews  38 results

Formation of keto-type ceramides in palmoplantar keratoderma based on biallelic KDSR mu...
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...

Juvenile idiopathic arthritis in Harlequin ichthyosis, a rare combination or the clinic...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8173856
Pediatric Rheumatology Online Journal; Baldo F, Brena M et. al.

Jun 5th, 2021 - Harlequin ichthyosis (HI) is the most severe phenotype of autosomal recessive congenital ichthyosis. Juvenile Idiopathic Arthritis (JIA) represents a heterogenous group of disorders all sharing the clinical manifestation of chronic arthritis. Asso...

Ichthyosis: case report in a Colombian man with genetic alterations in ABCA12 and HRNR ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8157432
BMC Medical Genomics; Arias-Pérez RD, Gallego-Quintero S et. al.

May 28th, 2021 - Ichthyosis is a heterogeneous group of diseases caused by genetic disorders related to skin formation. They are characterized by generalized dry skin, scaling, hyperkeratosis and frequently associated with erythroderma. Among its different types, ...

Prenatal diagnosis of a rare variant of harlequin ichthyosis with literature review.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7981911
BMC Medical Imaging; Zhou Y, Li L et. al.

Mar 22nd, 2021 - Harlequin ichthyosis (HI) is a rare and severe genetic skin disorder that occurs within the developing foetus. Due to the extremely poor prognosis, prenatal diagnosis becomes very important, especially for foetuses with no family history. There ar...

Harlequin ichthyosis from birth to 12 years.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7451270
BMJ Case Reports; Heap J, Judge M et. al.

Aug 28th, 2020 - A neonate was born with generalised, erythrodermic, thick, fissured skin, severe ectropion, hypoplastic auricles and limb abnormalities. A clinical diagnosis of harlequin ichthyosis was made, allowing supportive therapies to be commenced promptly....

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News  4 results

Despite New Ichthyosis Treatment Recommendations, 'Many Questions Still Exist'
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...

Consensus Statement Issued on Retinoids for Ichthyosis, Disorders of Cornification
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...

Care of infants with ichthyosis requires ‘all hands on deck’
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.

Genetic Pathways, Part 1
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.

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