Results 21 to 30 of about 248,586 (158)
Acral Melanoma in an Elderly Patient with Congenital Ichthyosis Vulgaris [PDF]
, 2022 Ichthyoses are a heterogeneous group of skin disorders featuring erythro- derma and generalized scaling. The relationship between ichthyosis and melanoma has not been well-characterized.
Cotoi, Ovidiu Simion +5 more
core +3 more sources
Reduced stratum corneum acylceramides in autosomal recessive congenital ichthyosis with a NIPAL4 mutation [PDF]
, 2020 Background: NIPAL4, encoding the NIPA-like domain containing 4 protein (NIPAL4), is one of the causative genes of autosomal recessive congenital ichthyosis (ARCI).
Takeichi, Takuya +9 more
core +1 more source
Harlequin ichthyosis: A case image from Syria
Clinical Case Reports, 2022 Harlequin ichthyosis is a rare autosomal recessive congenital ichthyosis with a distinct phenotypic appearance. It associated with a high mortality rate and affects both sexes equally.
Jacob Al‐Dabbagh +3 more
doaj +1 more source
Harlequin Ichthyosis: a rare congenital dermatological disorder [PDF]
, 2017 Harlequin Ichthyosis is the most severe form of congenital Ichthyosis presenting at birth. It is a very rare disorder with autosomal recessive inheritance. Perinatal mortality is high and the survivors develop severe erythroderma subsequently.
Mehrotra, Manju +3 more
core +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
Phenotypic diversity of the recurrent p.Val379Leu missense mutation of the TGM1 gene
Dermatologica Sinica, 2018 Autosomal recessive congenital ichthyosis type 1 (ARCI1), a clinically heterogeneous group of keratinization disorders, develops due to mutations in the transglutaminase 1 (TGM1) gene.
Adrienn Sulák +4 more
doaj +1 more source
Interventions for congenital ichthyosis [PDF]
Cochrane Database Syst Rev, 2017 This is a protocol for a Cochrane Review (Intervention). The objectives are as follows: To assess the effects of topical and systemic interventions for congenital ichthyosis. © 2017 The Cochrane Collaboration.
Danielsen P +4 more
europepmc +2 more sources
Study of Correlation of Severity and Quality of Life in Patients with Congenital Ichthyosis
Nepal Journal of Dermatology, Venereology & Leprology, 2022 Introduction: Congenital ichthyosis is a disorder of cornification of skin with various cutaneous symptoms. Quality of life is a subjective perception of patients regarding their disease status and treatment received.
Priyanka Hemrajani +3 more
doaj +3 more sources
The possibilities of using retinol palmitate in the systemic treatment of generalized hereditary keratinization disorders [PDF]
Vestnik Dermatologii i Venerologii, 2023 Hereditary ichthyosis is a group of generalized hereditary keratinization disorders characterized by general dryness of the skin, peeling, hyperkeratosis and often erythroderma. These manifestations are caused by mutations in genes mainly involved in the
Stanislava Yu. Petrova, Vera I. Albanova
doaj +1 more source
Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease
Вопросы современной педиатрии, 2022 Congenital ichthyosis is a group (almost 100 clinical variants) of rare genetic skin diseases caused by pathogenic changes in more than 50 genes.
Nikolay N. Murashkin +3 more
doaj +1 more source