Results 21 to 30 of about 528,814 (282)

Congenital ichthyosis: a multidisciplinary approach in a neonatal care unit. [PDF]

BMJ Case Rep, 2023
Congenital ichthyoses are a rare group of genetic disorders caused by defects in the two outermost skin layers, resulting in an abnormal barrier function. We report the case of a male preterm neonate presenting at delivery with thickened and scaling skin,
Dias JV, Cardoso K, Prado SN, Cavaco H.
europepmc   +2 more sources

Identification of Mutations in SDR9C7 in Three Patients with Autosomal Recessive Congenital Ichthyosis. [PDF]

Acta Derm Venereol, 2020
Mazereeuw-Hautier J, Severino-Freire M, Gaston V, Texier H, Vincent M, Aubert H, Morice-Picard F, Jonca N.   +7 more
europepmc   +3 more sources

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis. [PDF]

Ital J Pediatr, 2022
Background Congenital ichthyosis (CI) is a heterogeneous group of genetic disorders characterized by generalized dry skin, scaling and hyperkeratosis, often associated to erythroderma.
Serra G, Memo L, Cavicchioli P, Cutrone M, Giuffrè M, La Torre ML, Schierz IAM, Corsello G.   +7 more
europepmc   +2 more sources

Alopecia patterns and trichoscopic findings in patients with autosomal recessive congenital ichthyosis. [PDF]

Int J Womens Dermatol
Zaouak A, Jouini W, Abdessalem G, Abdelhak S, Hammami H, Charfeddine C, Fenniche S.   +6 more
europepmc   +2 more sources

CYP4F22-Related Autosomal Recessive Congenital Ichthyosis: Clinical Presentation. [PDF]

Cureus, 2022
Autosomal recessive congenital ichthyosis (ARCI) is a group of hereditary, nonsyndromic disorders of keratinization. ARCI encompasses several different clinical presentations and is caused by various genetic mutations. Commonly, ARCI presents with a taut,
Dumenigo A, Rusk A, Marathe K.
europepmc   +2 more sources

PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis. [PDF]

Metabolites, 2022
The stratum corneum of the epidermis acts as a life-sustaining permeability barrier. Unique heterogeneous ceramides, especially ω-O-acylceramides, are key components for the formation of stable lamellar membrane structures in the stratum corneum and are ...
Zeng F, Qin W, Huang F, Chang P.
europepmc   +2 more sources

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis. [PDF]

Int J Mol Sci, 2022
Mutations in genes such as transglutaminase-1 (TGM1), which are responsible for the formation and normal functioning of a lipid barrier, lead to the development of autosomal recessive congenital ichthyosis (ARCI).
Chulpanova DS, Shaimardanova AA, Ponomarev AS, Elsheikh S, Rizvanov AA, Solovyeva VV.   +5 more
europepmc   +2 more sources

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis-Like Autosomal Recessive Congenital Ichthyosis. [PDF]

PLoS One, 2021
Charfeddine C, Laroussi N, Mkaouar R, Jouini R, Khayat O, Redissi A, Mosbah A, Dallali H, Chedly Debbiche A, Zaouak A, Fenniche S, Abdelhak S, Hammami-Ghorbel H.   +12 more
europepmc   +3 more sources

Distinct skin microbiome community structures in congenital ichthyosis. [PDF]

Br J Dermatol, 2022
The ichthyoses are rare genetic keratinizing disorders that share the characteristics of an impaired epidermal barrier and increased risk of microbial infections.
Tham KC, Lefferdink R, Duan K, Lim SS, Wong XFCC, Ibler E, Wu B, Abu-Zayed H, Rangel SM, Del Duca E, Chowdhury M, Chima M, Kim HJ, Lee B, Guttman-Yassky E, Paller AS, Common JEA.   +16 more
europepmc   +2 more sources

Secukinumab responses vary across the spectrum of congenital ichthyosis in adults. [PDF]

Arch Dermatol Res, 2023
Lefferdink R, Rangel SM, Chima M, Ibler E, Pavel AB, Kim H, Wu B, Abu-Zayed H, Wu J, Jackson K, Singer G, Choate KA, Guttman-Yassky E, Paller AS.   +13 more
europepmc   +2 more sources