Results 21 to 30 of about 8,173 (220)
Clinical observation of familial cases of congenital ichthyosis
Педиатрическая фармакология, 2023 Background. Ichthyosis is a group of rare genetic diseases with a wide phenotypic spectrum, characterized most often by generalized hyperkeratinization and desquamation with variable erythema [1].
Nailya R. Pimenova +2 more
doaj +1 more source
Balkan Journal of Medical Genetics, 2023 Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal dysplastic syndrome presenting with keratitis, ichthyosis and sensorineural hearing loss.
Kalezić T +6 more
doaj +1 more source
Keratitis-ichthyosis-deafness syndrome, atypical connexin GJB2 genemutation, and peripheral T-cell lymphoma: more than a random association? [PDF]
, 2011 Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by a variety of skin lesions— that is, palmoplantar keratoderma, thickening of the skin, and erythematous verrucous lesions—neurosensorial hypoacusia, and keratitis
Contini, Salvatore +6 more
core +3 more sources
A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis [PDF]
, 2012 Congenital ichthyoses are life-threatening conditions in humans. We describe here the identification and molecular characterization of a novel recessive mutation in mice that results in newborn lethality with severe congenital lamellar ichthyosis. Mutant
Beier, David R. +6 more
core +7 more sources
Perinatal-lethal Gaucher disease can be the underlying cause of congenital ichthyosis
Journal of Pediatric and Neonatal Individualized Medicine, 2019 In this paper, we present an infant born with congenital ichthyosis who was also diagnosed with a perinatal-lethal form of type 2 Gaucher disease (GD).
Kubra Baskin +3 more
doaj +1 more source
The pH of the skin surface and its impact on the barrier function [PDF]
, 2006 The `acid mantle' of the stratum corneum seems to be important for both permeability barrier formation and cutaneous antimicrobial defense. However, the origin of the acidic pH, measurable on the skin surface, remains conjectural.
Abeck D +41 more
core +1 more source
Spontaneous subconjunctival abscess in congenital lamellar ichthyosis
Indian Journal of Ophthalmology, 2018 Congenital lamellar ichthyosis is an autosomal recessive, heterogeneous disorder presenting at birth with generalized skin involvement. The most common ophthalmic manifestation noted is bilateral ectropion of the lower eyelids.
Shivanand C Bubanale +2 more
doaj +1 more source
Quality of life in Swedish children with congenital ichthyosis
Dermatology Reports, 2010 Congenital ichthyosis encompasses a large group of keratinizing disorders with widespread scaling and a variable degree of erythema. Little is known about the quality of life in children with congenital ichthyosis and the impact of the disease on their ...
Agneta Gånemo
doaj +1 more source
I Jornada de expertos en ictiosis [PDF]
, 2013 On June 22, 2012 the First Symposium of Ichthyosis Experts in Spain was held at the Hospital Niño de Jesús in Madrid. It was a one-day symposium for dermatologists, pediatricians, and physicians-in-training interested in this disease, as well as for ...
A. Hernández-Martín +10 more
core +3 more sources