Results 61 to 70 of about 31,665 (304)

Lamellar ichthyosis

Dermatology Online Journal, 2005
A 6-year-old African boy with a history of a collodion membrane presented with scale in a generalized distribution and flexural accentuation. Large, brown, polygonal scales were present on the forehead, lateral aspects of the face, and extremities. The nature of the scales and the lack of erythroderma in this patient are consistent with a mild form of ...
Victor, Frank, Schaffer, Julie V
openaire   +4 more sources

X‐linked ichthyosis: Molecular findings in four pedigrees with inconspicuous clinical manifestations

Journal of clinical laboratory analysis (Print), 2020
X‐linked ichthyosis (XLI) is the second most common type of ichthyosis, which is characterized by wide and symmetric distribution of adherent, dry, and polygonal scales on the skin.
Min Zhang, Hailong Huang, N. Lin, Shuqiong He, G. An, Yan Wang, Meihuan Chen, Lingji Chen, Yuan Lin, Liangpu Xu   +9 more
semanticscholar   +1 more source

Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations

Medeniyet Medical Journal, 2022
Objective: Ichthyosis is a clinically heterogeneous group of genodermatoses characterized by widespread drying and scaling of the skin. It is also a genetically heterogeneous disorder, and 67 genes associated with the disease have been identified to date.
Hanife SAAT, Ibrahim SAHIN, Neslihan DUZKALE, Muzeyyen GONUL, Taha BAHSI   +4 more
doaj   +1 more source

Loss-of-function variants of the filaggrin gene are associated with atopic eczema and associated phenotypes in Swedish families [PDF]

, 2008
Recent studies have identified 2 loss-of-function variants, R501X and 2282del4, in the filaggrin gene as predisposing factors in the development of eczema.
Bradley, Maria, D'Amato, Mauro, Ekelund, Elisabeth, Kockum, Ingrid, Lee, Simon P., Lieden, Agne, Link, Jenny, Palmer, Colin N. A.   +7 more
core   +3 more sources

Novel transglutaminase 1 mutations in patients affected by lamellar ichthyosis [PDF]

, 2012
Lamellar Ichthyosis (LI) is a form of congenital ichthyosis that is caused by mutations in the TGM1 gene that encodes for the transglutaminase 1 (TG1) enzyme. Functional inactivation of TG1 could be due to mutations, deletion or insertions. In this study,
Annicchiarico-Petruzzelli, M, Bui, L, Campione, E, Candi, E, Codispoti, A, Didona, B, Melino, G, Palombo, R, Serra, V, Sette, M, Talamonti, E, Terrinoni, A, Zambruno, G   +12 more
core   +1 more source

Lamellar ichthyosis

Definitions, 2020
A very rare, autosomal recessive inherited skin disorder present at birth. It is characterized by the presence of a transparent membrane encasing the newborn.
Lamellar ichthyosis
semanticscholar   +1 more source

Clinico-Epidemiologic Profile of Non-Syndromic Congenital Ichthyosis – A Retrospective Chart Review of 107 Patients

Indian Journal of Dermatology
Background: Congenital ichthyoses are a rare Mendelian group of disorders affecting the integument with a heterogeneous clinical presentation amongst which scaling is a constant feature.
Rahul Mahajan, Shirin Bakshi, Debajyoti Chatterjee, Dipankar De, Uma N. Saikia, Sanjeev Handa   +5 more
doaj   +1 more source

A unique case of a digital tourniquet in ichthyosis vulgaris

JPRAS Open, 2020
We report a unique case of a digital tourniquet in a patient with ichthyosis vulgaris. We have identified no previous case reports documenting the occurrence of a digital tourniquet in patients caused by this condition.
L.F. McClymont, M. Ng
doaj   +1 more source

Ichthyosis, exocrine pancreatic insufficiency, impaired neutrophil chemotaxis, growth retardation, and metaphyseal dysplasia (Shwachman syndrome). [PDF]

, 1991
The Shwachman syndrome comprises exocrine pancreatic insufficiency, growth retardation, and bone marrow hypoplasia resulting in neutropenia. Clinical, morphological, and ultrastructural studies, as well as hair analysis, were performed in a patient with ...
Goeteyn, M. (M.), Groot, R. (Ronald) de, Oranje, A.P. (Arnold), Suijlekom-Smit, L.W.A. (Lisette) van, Vuzevski, V.D. (Vojislav)   +4 more
core   +1 more source

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

Human Mutation, 2019
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.
L. Youssefian, H. Vahidnezhad, A. Saeidian, A. Touati, S. Sotoudeh, H. Mahmoudi, P. Mansouri, M. Daneshpazhooh, N. Aghazadeh, K. K. Hesari, M. Basiri, Eric Londin, Gaurav Kumar, S. Zeinali, P. Fortina, J. Uitto   +15 more
semanticscholar   +1 more source