ALLMedicine™ Harlequin Ichthyosis Center

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...

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...

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, ...

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...

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....

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...

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...

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.

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.