Results 91 to 100 of about 29,876 (307)
Clincal and Experimental Dermatology, 2018 Mutations in keratin genes underlie a variety of epidermal and nonepidermal cell‐fragility disorders, and are the genetic basis of many inherited palmoplantar keratodermas (PPKs). Epidermolytic PPK (EPPK) is an autosomal dominant disorder that can be due
F. Smith +5 more
semanticscholar +1 more source
Impaired Copper Metabolism in a Patient With Short Gut and IDEDNIK Syndrome
Annals of the Child Neurology Society, EarlyView.
Stephen Deputy
wiley +1 more source
International Journal of Cosmetic Science, EarlyView.The facial SC lipid profiles of young Chinese women in the early aging stage exhibited significant changes with age. The average chain length of diacylglycerol, triacylglycerol and short‐chain ceramides decreases with age, while the cholesteryl ester and ceramide EO subclasses increase. Some ceramides correlate positively with TEWL, skin elasticity and
Yumei Fan +6 more
wiley +1 more source
BiomedicinesInherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the ...
Tiziana Fioretti +23 more
doaj +1 more source
A case of ichthyosis hystrix: Unusual manifestation of this rare disease
Indian Journal of Dermatology, 2014 Ichthyosis hystrix is a term used to describe an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny scales mainly over extensor aspects of limbs with palmoplantar keratoderma and occasionally associated with deafness and neurological
Projna Biswas +5 more
doaj +1 more source
Ichthyosis uteri with dysplasia - A case report
Indian Journal of Pathology and Microbiology, 2020 Ichthyosis uterus is an uncommon condition in which the entire surface of the endometrium is replaced by stratified squamous epithelium. This condition most commonly develops secondary to longstanding cervical obstruction or chronic inflammation.
Chitrawati B Gargade +1 more
doaj +1 more source
Mutations in the _SC4MOL_ gene encoding a novel methyl sterol oxidase cause autosomal recessive psoriasisiform dermatitis, microcephaly and developmental delay [PDF]
, 2008 Disorders of cholesterol biosynthesis have clinical manifestations involving skeleton, eyes, neurologic development, and skin. We describe a patient with congenital cataracts, developmental delay, microcephaly, and low serum cholesterol who developed ...
Abbe Vallejo +8 more
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Abca12-mediated lipid transport and Snap29-dependent trafficking of lamellar granules are crucial for epidermal morphogenesis in a zebrafish model of ichthyosis. [PDF]
, 2011 Zebrafish (Danio rerio) can serve as a model system to study heritable skin diseases. The skin is rapidly developed during the first 5-6 days of embryonic growth, accompanied by expression of skin-specific genes. Transmission electron microscopy (TEM) of
Akiyama, Masashi +8 more
core +4 more sources
International Journal of Cosmetic Science, EarlyView.Polyethylene glycol‐23 glyceryl distearate (GDS‐23) forms niosomes and penetrates the skin. Our results suggest that the pharmacological effects following dermal penetration of GDS‐23 may enhance skin homeostasis by improving barrier function and moisture retention.
Tatsuro Miyoshi +4 more
wiley +1 more source