Results 21 to 30 of about 184 (126)
Ocular complications of lamellar ichthyosis
Ichthyosis is a rare heterogeneous cutaneous disorder characterized by hyperkeratinization of the skin. They may be inherited or acquired following malnutrition, malignancy, or autoimmune disorders. Common forms of ichthyosis include lamellar ichthyosis (
Ibrahim Aliyu
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Dermatodendrosophy and dermatokarposophy – A bird's eye view
Dermatodendrosophy is defined to describe the relation between dermatology and the trees whereas Dermatokarposophy describes the connection between dermatology and fruits.
Anil Harishchandra Patki +1 more
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Lamellar ichthyosis, a severe form of congenital ichthyosis, is often complicated by ectropion that, if unmanaged, can result in permanent vision loss. We report a 5-month-old infant of lamellar ichthyosis with bilateral grade III ectropion treated with ...
Shreshthangsha Sayan Biswas +2 more
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Ichthyosis is a rare inherited skin disorder characterized by abnormal keratinization of the epidermis. Cicatricial ectropion is the most common ophthalmic feature of congenital ichthyosis.
Nirmala Subramanian +2 more
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FLOWER (FWE) is a small alternatively spliced transmembrane protein whose conserved four‐transmembrane topology enables interaction with trafficking machinery and membrane phospholipids. Initially characterized by synaptic vesicle endocytosis, FWE is now recognized as a critical mediator of endo‐lysosome related organelle trafficking across diverse ...
Justin C. Rudd, Laura A. Hansen
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Bilateral Congenital Upper Eyelid Eversion in Neonates with Lamellar Ichthyosis
Background: Bilateral congenital upper eyelid eversion is a rare but visually alarming condition that presents at birth and is often associated with systemic disorders such as lamellar ichthyosis.
Sangameshwarayya B. Salimath +2 more
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Abstract Ceramide deficiency in the stratum corneum (SC) is a key etiological factor in atopic dermatitis (AD). To clarify the direct role of SC ceramide depletion in impairing SC barrier and water‐holding functions and in initiating AD‐like skin symptoms and disease‐specific molecular alterations, we generated Tg mice overexpressing a mutant form of ...
Mariko Takada +8 more
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ABCA12 Frameshift Deletion in Domestic Cats With Ichthyosis Fetalis
ABSTRACT Background Ichthyosis fetalis (IF), also known as harlequin ichthyosis, is a rare and often fatal autosomal recessive congenital skin disorder. It is characterized by thickened, hard skin plaques and deep skin fissures that limit mobility and cause malformations of the eyes, lips and ears.
Jeanna M. Blake +2 more
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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.
Peter M. Elias +4 more
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ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal dermatologic emergency that can be confidently diagnosed clinically at birth. Prompt recognition and early supportive management—including thermoregulation, fluid balance, infection prevention, and intensive skin care—are crucial determinants of survival, especially in low‐resource ...
Chukwuka Elendu +6 more
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