منابع مشابه
A Case Report of Harlequin Ichthyosis
Harlequin ichthyosis is the most severe form of congenital ichthyoses with horny (Keratinized) and chapped thick skin throughout the body. In this disease, disruption in keratinization of epidermis results in the impaired barrier function and susceptibility of the neonate to dehydration and infection. In this article, a term male neonate with harlequin ichthyosis, born of a 29-year-old mother, ...
متن کاملA case report of fatal harlequin ichthyosis: Insights into infectious and respiratory complications
ABCA12: adenosine triphosphate binding cassette A12 HI: harlequin ichthyosis NICU: neonatal intensive care unit INTRODUCTION Harlequin ichthyosis (HI) is a rare autosomal recessive congenital ichthyosis associated with mutations in the keratinocyte lipid transporter adenosine triphosphate binding cassette A12 (ABCA12), leading to disruption in lipid and protease transport into lamellar granules...
متن کاملHarlequin ichthyosis: Case report
Harlequin fetus is a rare and the most severe form of the congenital ichthyosis with an autosomal recessive inheritance. Incidence of the disease is nearly 1 in 3,00,000 live births. The disease might be lethal at birth and the affected babies are often premature. Harlequin ichthyosis (HI) is marked by severe keratinized and alligator-like horned skin. The present study reports a new case with ...
متن کاملFetal and Fatal Errors
general determines cell fate. There are important quesWhy do the lifespans and outcomes of aging in inbred tions such as how cells can respond reliably to threshold and well cared for laboratory populations of nematodes, concentrations of morphogens, how gradients can be fruit flies, and mice vary so much among individuals? set up with precision, and how chance can so affect And why are the var...
متن کاملFetal inhibition of inflammation improves disease phenotypes in harlequin ichthyosis.
Harlequin ichthyosis (HI) is a severe skin disease which leads to neonatal death in ∼50% of cases. It is the result of mutations in ABCA12, a protein that transports lipids required to establish the protective skin barrier needed after birth. To better understand the life-threatening newborn HI phenotype, we analysed the developing epidermis for consequences of lipid dysregulation in mouse mode...
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ژورنال
عنوان ژورنال: JAMA: The Journal of the American Medical Association
سال: 1900
ISSN: 0098-7484
DOI: 10.1001/jama.1900.24620430017001f