نتایج جستجو برای: harlequin ichthyosis

تعداد نتایج: 2442  

Journal: :Journal of lipid research 2008
Peter M Elias Mary L Williams Walter M Holleran Yan J Jiang Matthias Schmuth

Many of the ichthyoses are associated with inherited disorders of lipid metabolism. These disorders have provided unique models to dissect physiologic processes in normal epidermis and the pathophysiology of more common scaling conditions. In most of these disorders, a permeability barrier abnormality "drives" pathophysiology through stimulation of epidermal hyperplasia. Among primary abnormali...

Journal: :Archives of dermatology 2008
Mandy Harting Nicola Brunetti-Pierri C Stanley Chan Joslyn Kirby Megan K Dishop Gabriele Richard Fernando Scaglia Albert C Yan Moise L Levy

BACKGROUND Collodion phenotype is a term applied to the condition affecting a newborn involving a parchmentlike membrane covering the whole body surface (collodion membrane). This presentation is common to several different forms of autosomal recessive congenital ichthyoses, including nonbullous congenital ichthyosiform erythroderma (NCIE), lamellar ichthyosis (LI), and harlequin ichthyosis (HI...

2011
Tomonobu Hazuku Kisaburo Yamada Masamoto Imaizumi Toru Ikebe Kei Shinoda Kazuo Nakatsuka Kazuhito Sekiguchi Tatsuro Izumi Yoshihiro Nishida

BACKGROUND We present two patients who developed severe protrusion of the conjunctiva and chemosis secondary to Harlequin ichthyosis (HI). CASE REPORTS Case 1 was a male infant diagnosed with HI who had parchment-like appearance and conjunctival protrusion with severe chemosis. Case 2 was a female infant on whom HI had been suspected before birth through ultrasonography. She showed thickened ...

Journal: :Archives of Hand and Microsurgery 2022

Harlequin ichthyosis (HI) is a rare congenital disease that primarily affects the skin. Its complications include syndactyly, which can cause severe constriction. Surgical release thought to be helpful, but details remain unclear due lack of data. We share our 5-year experience patient with HI successful outcomes from five syndactyly operations involving division, local flap interposition, and ...

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