Lamellar Ichthyosis.
Sign Up to like & getrecommendations! Published in 2022 at "JAMA dermatology"
DOI: 10.1001/jamadermatol.2022.5112
Abstract: This case report describes a patient in her 30s who was born with ichthyosis who presented with plate-like scale that covered her whole body as well as ectropion. read more here.
Keywords: dermatology; lamellar ichthyosis; ichthyosis;
A novel autosomal recessive GJB2‐associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss, and punctate palmoplantar keratoderma
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23686
Abstract: Ichthyosis follicularis, a distinct cutaneous entity reported in combination with atrichia, and photophobia has been associated with mutations in MBTPS2. We sought the genetic cause of a novel syndrome of ichthyosis follicularis, bilateral severe sensorineural… read more here.
Keywords: bilateral severe; ichthyosis; sensorineural hearing; follicularis bilateral ... See more keywords
Secukinumab responses vary across the spectrum of congenital ichthyosis in adults
Sign Up to like & getrecommendations! Published in 2022 at "Archives of Dermatological Research"
DOI: 10.1007/s00403-022-02325-3
Abstract: Treatment of congenital ichthyoses primarily focuses on reversing skin scaling and is not pathogenesis based. Recent studies showed Th17 immune skewing, as in psoriasis, across the spectrum of ichthyosis, suggesting that targeting this pathway might… read more here.
Keywords: across spectrum; placebo; medicine; congenital ichthyosis ... See more keywords
A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Genetics and Genomics"
DOI: 10.1007/s00438-021-01824-8
Abstract: The aim of this study was to characterize the phenotype and to identify the genetic etiology of a syndromic form of ichthyosis congenita (IC) observed in Italian Chianina cattle and to estimate the prevalence of… read more here.
Keywords: form ichthyosis; ichthyosis; fa2h; ichthyosis congenita ... See more keywords
Phenotypic spectrum of autosomal recessive Keratitis-Ichthyosis-Deafness Syndrome (KIDAR) due to mutations in AP1B1.
Sign Up to like & getrecommendations! Published in 2022 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2022.104449
Abstract: Inborn errors in copper metabolism result in a diverse set of abnormalities such as Wilson disease and MEDNIK syndrome. Homozygous pathogenic variants in AP1B1 lead to KIDAR (Keratitis-Ichthyosis-Deafness Syndrome). The main phenotypic features of KIDAR… read more here.
Keywords: kidar; deafness syndrome; ichthyosis; keratitis ichthyosis ... See more keywords
Annular epidermolytic ichthyosis: An exceptional mild subtype of epidermolytic ichthyosis without genotype and phenotype correlation
Sign Up to like & getrecommendations! Published in 2020 at "JAAD Case Reports"
DOI: 10.1016/j.jdcr.2019.10.026
Abstract: AEI: annular epidermolytic ichthyosis EI: epidermolytic ichthyosis KRT: keratin PPK: palmoplantar keratoderma INTRODUCTION Annular epidermolytic ichthyosis (AEI) is a rare subtype of epidermolytic ichthyosis (EI) characterized by recurrent flares of erythematous and scaly lesions alternating… read more here.
Keywords: ichthyosis; subtype epidermolytic; ichthyosis exceptional; epidermolytic ichthyosis ... See more keywords
Corneal ulcer secondary to ectropion in lamellar Ichthyosis: A rare congenital disorder
Sign Up to like & getrecommendations! Published in 2019 at "Saudi Journal of Ophthalmology"
DOI: 10.1016/j.sjopt.2019.09.008
Abstract: Abstract We present a rare case of Lamellar Ichthyosis with bilateral ectropion with left sided corneal ulcer with descemetocele in a four-month-old female child, the youngest ever reported. Ichthyosis is a group of skin disorders… read more here.
Keywords: ichthyosis; ectropion; ichthyosis rare; lamellar ichthyosis ... See more keywords
Ichthyosis Uteri Associated with Squamous Cell Carcinoma of the Endometrium - A Case Report.
Sign Up to like & getrecommendations! Published in 2022 at "Acta chirurgica Belgica"
DOI: 10.1080/00015458.2022.2101332
Abstract: BACKGROUND Ichthyosis uteri is an extremely rare condition in which the entire or extensive parts of endometrial lining are replaced by stratified squamous epithelium. Malignant potential of this entity is unclear and its association with… read more here.
Keywords: endometrium; ichthyosis; squamous cell; ichthyosis uteri ... See more keywords
Interleukin-18 as a severity marker and novel potential therapeutic target for epidermolytic ichthyosis.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical and experimental dermatology"
DOI: 10.1093/ced/llac069
Abstract: BACKGROUND Epidermolytic ichthyosis (EI) is a major form of nonsyndromic inherited ichthyosis, characterized by erythroderma, marked hyperkeratosis and scale, bulla and erosion at birth, associated with KRT1/KRT10 mutations. The cytokine and chemokine profiles in EI… read more here.
Keywords: interleukin severity; ichthyosis; severity; severity marker ... See more keywords
Mood symptoms, neurodevelopmental traits, and their contributory factors in X‐linked ichthyosis, ichthyosis vulgaris and psoriasis
Sign Up to like & getrecommendations! Published in 2022 at "Clinical and Experimental Dermatology"
DOI: 10.1111/ced.15116
Abstract: High rates of adverse mood/neurodevelopmental traits are seen in multiple dermatological conditions, and can significantly affect patient quality of life. Understanding the sex‐specific nature, magnitude, impact and basis of such traits in lesser‐studied conditions like… read more here.
Keywords: traits contributory; ichthyosis; mood symptoms; symptoms neurodevelopmental ... See more keywords
Ichthyosis follicularis syndromes in patients with mutations in GJB2
Sign Up to like & getrecommendations! Published in 2022 at "Clinical and Experimental Dermatology"
DOI: 10.1111/ced.15217
Abstract: Ichthyosis follicularis (IF) manifests as generalized spiny follicular projections found in syndromic diseases secondary to SREBF1 and MBTPS2 mutations. We sought the genetic cause of IF in two distinct families from a cohort of 180… read more here.
Keywords: follicularis syndromes; ichthyosis; ichthyosis follicularis; syndromes patients ... See more keywords