Results 21 to 30 of about 517,181 (258)

Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation. [PDF]

Mov Disord Clin Pract, 2021
Department of Neurology, Hazrat Rasool Hospital, Iran University of Medical Sciences, Tehran, Iran; Department of Neurology, Firoozgar Hospital, Iran University of Medical Sciences, Tehran, Iran; Genetics Research Center, University of Social Welfare and
Haeri G, Hajiakhoundi F, Alavi A, Ghiasi M, Munhoz RP, Rohani M.   +5 more
europepmc   +2 more sources

Multi-Gene Next-Generation Sequencing for Molecular Diagnosis of Autosomal Recessive Congenital Ichthyosis: A Genotype-Phenotype Study of Four Italian Patients. [PDF]

Diagnostics (Basel), 2020
Autosomal recessive congenital ichthyoses (ARCI) are rare genodermatosis disorders characterized by phenotypic and genetic heterogeneity. At least fourteen genes so far have been related to ARCI; however, despite genetic heterogeneity, phenotypes ...
Fioretti T, Auricchio L, Piccirillo A, Vitiello G, Ambrosio A, Cattaneo F, Ammendola R, Esposito G.   +7 more
europepmc   +2 more sources

Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation. [PDF]

PLoS One, 2020
Mutations in CYP4F22 cause autosomal recessive congenital ichthyosis (ARCI). However, less than 10% of all ARCI patients carry a mutation in CYP4F22.
Esperón-Moldes U, Ginarte-Val M, Rodríguez-Pazos L, Fachal L, Martín-Santiago A, Vicente A, Jiménez-Gallo D, Guillén-Navarro E, Sampol LM, González-Enseñat MA, Vega A.   +10 more
europepmc   +2 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   +3 more sources

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

Human Mutation, 2018
Autosomal recessive congenital ichthyosis (ARCI), a phenotypically heterogeneous group of non‐syndromic Mendelian disorders of keratinization, is caused by mutations in as many as 13 distinct genes.
Leila Youssefian, Hassan Vahidnezhad, Amir Hossein Saeidian, Andrew Touati, Soheila Sotoudeh, Hamidreza Mahmoudi, Parvin Mansouri, Maryam Daneshpazhooh, Nessa Aghazadeh, Kambiz Kamyab Hesari, Mohammadreza Basiri, Eric Londin, Gaurav Kumar, Sirous Zeinali, Paolo Fortina, Jouni Uitto   +15 more
openalex   +2 more sources

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, Linda Maria Genoveva De Piedade Sequeira, Bhagyajyothi B Kurbet   +2 more
doaj   +4 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

Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother [PDF]

SAGE Open Medical Case Reports
We present the cases of two brothers with ichthyosis, born to consanguineous parents, with the eldest having extracutaneous manifestations in the form of microphthalmia and corneal opacities causing complete blindness.
Rachel L Aubry, A. Micheil Innes, Richard M Haber   +2 more
doaj   +2 more sources

Congenital ichthyosis in a llama [PDF]

Journal of the American Veterinary Medical Association, 1990
A 1-month-old male cria was examined because of diffuse hyperkeratosis and conjunctivitis that had existed since birth. The mucocutaneous junction of the nostrils as well as the neck, coronary bands, and axillary and inguinal regions were the most severely affected areas. Orthokeratosis involving the epidermis and follicular infundibula was observed on
Ellen B. Belknap, R. W. Dunstan
openalex   +3 more sources

Coexistence of Griscelli Syndrome Type 2 and Autosomal Recessive Congenital Ichthyosis in an Indian Girl

Indian Journal of Paediatric Dermatology
Griscelli syndrome (GS) is a genetic disorder, characterized by pigmentary dilution of skin and hair, neurological manifestations, and variable immunodeficiency. Three different mutations have been reported in different phenotypes of this disease.
Yashika Jayesh Doshi, Hitaishi Sethi, Bela J Shah   +2 more
doaj   +2 more sources