Results 61 to 70 of about 9,426 (154)
Dermatopathology, 2021 Ichthyoses are inborn keratinization disorders affecting the skin only (non-syndromic) or are associated with diseases of internal organs (syndromic). In newborns, they can be life-threatening.
Dieter Metze +2 more
doaj +1 more source
Inheritance of Monogenic Hereditary Skin Disease and Related Canine Breeds
Veterinary Sciences, 2022 The plasticity of the genome is an evolutionary factor in all animal species, including canines, but it can also be the origin of diseases caused by hereditary genetic mutation.
Pablo Jesús Marín-García, Lola Llobat
doaj +1 more source
Acta medica Philippina, 2021 Epidermolytic Ichthyosis (EI) is a rare non-syndromic keratinopathic ichthyosis without definitive treatment. This is a case of EI in a 5-year-old Filipino female who presented with hyperkeratotic scales sparing the palms and soles.
E. Dy +3 more
semanticscholar +1 more source
Infantile epidermolytic ichthyosis with prominent maternal palmoplantar keratoderma [PDF]
Dermatology Online Journal, 2016 Epidermolytic Ichthyosis (EI) is a rare autosomal dominant genodermatosis. Although an inherited disorder, 50% of cases represent novel mutations. This disorder presents as a bullous disease in newborns progressing to a lifelong ichthyotic skin disorder. Other manifestations include palmoplantar keratoderma (PPK).
Austin Smith, Wallace +3 more
openaire +4 more sources
Sensors, 2021 Keratins are one of the main fluorophores of the skin. Keratinization disorders can lead to alterations in the optical properties of the skin. We set out to investigate a rare form of keratinopathic ichthyosis caused by KRT1 mutation with two different ...
Pálma Anker +13 more
doaj +1 more source
A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma [PDF]
Dermatology Online Journal, 2020 We report a 6-year-old girl showing epidermolytic ichthyosis/epidermolytic hyperkeratosis (EI/EH). Targeted Next Generation Sequencing revealed a de novo, previously unidentified KRT1 mutation. The findings of this study expands the clinical and spectrum and genotype-phenotype correlation associated with EI/EH.
Calì, Francesco +4 more
openaire +6 more sources
A term newborn with cutaneous erosions at birth
, 2023 Pediatric Dermatology, Volume 40, Issue 6, Page 1133-1135, November/December 2023.
Igbagbosanmi Oredein +2 more
wiley +1 more source
Systematized epidermolytic epidermal nevus (ichthyosis hystrix)
Scripta Scientifica Medica, 2015 Ichthyosis hystrix is a term used to describe an autosomal dominant rare form of an ichthyosiform dermatosis which is characterized by hyperkeratotic spiny scales. We present a healthy 22-year-old man with lesions which clinically and histopathologically corresponded to the rare inherited disorder ichthyosis hystrix.
Sonya Márina +3 more
openalex +4 more sources
Annular epidermolytic ichthyosis
Dermatology Online Journal, 2003 A 21-year-old woman presented to the Charles C. Harris Skin and Cancer Pavilion with a life-long history of palmoplantar keratoderma that was accompanied by episodic flares of polycyclic psoriasiform patches diffusely over the rest of her body. A biopsy specimen of a representative skin lesion showed epidermolytic hyperkeratosis.
openaire +4 more sources
Recurrent KRT10 Variant in Ichthyosis with Confetti
Acta Dermato-Venereologica, 2020 is missing (Short communication)
Takuya Takeichi +8 more
doaj +1 more source