Results 11 to 20 of about 5,748 (201)
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 +2 more sources
Amnion Nodosum and Congenital Ichthyosis [PDF]
American Journal of Clinical Pathology, 1977 Histologic characteristics of the placentas in four cases of amnion nodosum and congenital ichthyosis, a rare association, are presented. Two cases were missed abortions of a single multiparous woman, supporting the hypothesis that in congenital ichthyosis amnion and skin share an abnormal genetic trait.
A G, Garcia +3 more
core +4 more sources
Quality of life in Swedish children with congenital ichthyosis [PDF]
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 +2 more sources
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 +2 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 +2 more sources
Clinico-epidemiological study of congenital ichthyosis in a tertiary care center of Eastern India
Indian Journal of Dermatology, 2017 Background: Congenital ichthyoses comprises various specific genetic diseases and can range from mild to very severe presentation. Furthermore, these may be associated with various syndromes.
Arghyaprasun Ghosh +4 more
doaj +2 more sources
Autosomal Recessive Congenital Ichthyosis [PDF]
Journal of Investigative Dermatology, 2009 Recent progress in the genetics of autosomal recessive congenital ichthyosis (ARCI) has illustrated the power of genetic strategies for the investigation of newly recognized metabolic pathways and for the mechanisms of barrier function in normal skin. Parallel biochemical studies have elucidated important functional aspects of these findings (Brash et ...
Fischer, Judith
openaire +3 more sources
Interventions for congenital ichthyosis
Cochrane Database of Systematic Reviews, 2014 Reason for withdrawal from publication The authors have relinquished responsibility for this protocol. It was published several years ago, and Cochrane Skin have decided to withdraw it (Managing Editor, Cochrane Skin).
Danielsen, Patricia L +4 more
openaire +4 more sources
Lamellar congenital ichthyosis in practice of dermatologists
Vestnik Dermatologii i Venerologii, 2017 The paper describes 2 cases of congenital lamellar ichthyosis debuting state «collodion baby». Presented features of clinical manifestations: in newborn all skin is covered with a thin dry yellowish-brown film, resembling collodion, also ectropion and ...
S. V. Koshkin +4 more
doaj +2 more sources
Journal of Dermatology and Dermatologic Surgery, 2016 Autosomal recessive congenital ichthyosis (ARCI), is a rare form of ichthyosis with multiple mutations identified. Ichthyin (NIPAL4) gene mutation is identified in about 18% of cases.
Yousef Binamer
doaj +2 more sources