Harlequin Ichthyosis



  • Who are the top experts researching treatments for harlequin ichthyosis?

    The top experts researching harlequin ichthyosis are: Philip H Fleckman, David Peter Kelsell and Debra A Crumrine.

  • What are some of the top places that specialize in harlequin ichthyosis?

    Recommended institutions that specialize in harlequin ichthyosis:

    1. Central Sydney Dermatology225 Macquarie St, Sydney NSW 2000, Australia Phone: +61292211477
    2. The Skin Hospital7 Ashley Ln, Westmead NSW 2145, Australia Phone: +61288333000
    3. Dallas Associated Dermatologists6750 N MacArthur Blvd, Irving, TX 75039, United States Phone: +12149873376
    4. Forefront Dermatology Greensburg, PA419 W Pittsburgh St, Greensburg, PA 15601, United States Phone: +17248375810

Recent articles about Harlequin Ichthyosis

Characteristic Morphologic Abnormality Of Harlequin Ichthyosis Detected In...

[ PUBLICATION ] ... of harlequin ichthyosis by light and electron microscopy. Clumps of abnormally keratinized cells that had a large number of lipid droplets in the cytoplasm were seen within both the 17- ...
Known for Harlequin Ichthyosis | Amniotic Fluid | Newborn Microscopy | Skin Biopsy

Harlequin Ichthyosis: A Case Study

[ PUBLICATION ] ... as harlequin ichthyosis. Harlequin ichthyosis is characterized by a profound thickening of the fetal skin. Affected infants are born with a thick "horny shell" of dense, waxy, platelike ...
Known for Harlequin Ichthyosis | Lamellar Infant | Deformities | Born

Harlequin Ichthyosis: A Surgical Perspective

[ PUBLICATION ] ... with harlequin ichthyosis can cause tissue injury resulting in necrosis and auto-amputation. Surgical release of constrictive plaques has been previously demonstrated, but the ...
Known for Harlequin Ichthyosis | Lamellar Infant | Report Case | Autoamputation

Harlequin Ichthyosis: Variability In Expression And Hypothesis For Disease Mechanism

[ PUBLICATION ] ... Background: Harlequin ichthyosis is an inherited skin disorder that usually results in death shortly after birth. Although the clinical features of this disorder are well described, the ...
Known for Harlequin Ichthyosis | Protein Phosphatase | Catalytic Subunit | Skin Disorder

Pathomechanisms Of Harlequin Ichthyosis And Abca Transporters In Human Diseases

[ PUBLICATION ] ... of harlequin ichthyosis (HI) (the most devastating subtype of congenital ichthyoses) and its prenatal diagnosis and to discuss the possibility of future gene therapy. DATA SOURCE: PubMed ...
Known for Harlequin Ichthyosis | Abca Transporters | Prenatal Diagnosis | Genetic Defects

Repair Of Cicatricial Ectropion In An Infant With Harlequin Ichthyosis Using...

[ PUBLICATION ] ... with harlequin ichthyosis. DESIGN: Interventional case report. METHODS: A 6-week-old male child with harlequin ichthyosis and severe bilateral upper eyelid cicatricial ectropion underwent ...
Known for Harlequin Ichthyosis | Cicatricial Ectropion | Human Skin | Respiratory Failure

Harlequin Ichthyosis — A Case Report

[ PUBLICATION ] ... with Harlequin ichthyosis are generally similar, histological, ultrastructural, and biochemical analyses have not shown consistent findings. An unexpected case of Harlequin ichthyosis in a ...
Known for Harlequin Ichthyosis | Lamellar Infant | Severe Form | Outcome Female

Three Siblings With Harlequin Ichthyosis In An Indian Family

[ PUBLICATION ] ... with Harlequin Ichthyosis, a rare form of congenital disorder, born to the same parents are presented. The genetic aspects are discussed and the relevant literature is reviewed.
Known for Harlequin Ichthyosis | Publication Abnormalities

Juvenile Idiopathic Arthritis In Infants With Harlequin Ichthyosis: Two Cases...

[ PUBLICATION ] ... BackgroundHarlequin Ichthyosis is the most severe variant of congenital autosomal recessive ichthyosis, associated with severe morbidity and potentially lethal in early life. At birth, ...
Known for Harlequin Ichthyosis | Juvenile Idiopathic Arthritis | Literature Review | Child Treated

Defects In Stratum Corneum Desquamation Are The Predominant Effect Of Impaired...

[ PUBLICATION ] . Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the mouse Abca12 gene that leads to ...
Known for Harlequin Ichthyosis | Stratum Corneum | Skin Disease | Abca12 Gene

Recently Asked Questions

Harlequin Ichthyosis Harlequin ichthyosis is a rare and severe genetic disorder that affects the skin. It is characterized by thick, hard, plate-like scales covering the entire...