Results 51 to 60 of about 29,876 (307)

Ichthyosis in the newborn [PDF]

Seminars in Perinatology, 2013
The ichthyoses encompass a variety of genetic disorders marked by abnormal epidermal differentiation. The neonatal period is critical for patients with ichthyosis because of the risk for significant associated morbidity and mortality, with the majority of complications arising as a result of impaired barrier function. This article reviews presentations
openaire   +3 more sources

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

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

Quality of life in Swedish children with congenital ichthyosis

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   +1 more source

Ichthyosis in Dogs—Congenital Dermatologic Disorder

Folia Veterinaria, 2021
The skin provides protective functions, such as thermoregulation, resorption, provision of immune responses, storage and sensory functions, which all play an important role in the internal stability of the organism.
Malinovská Z., Čonková E.
doaj   +1 more source

Ichthyosis uteri with carcinoma cervix: A case report

MGM Journal of Medical Sciences, 2021
Ichthyosis uteri is a rare condition in which the entire surface of the endometrium undergoes metaplasia and is replaced by stratified squamous epithelium.
Abeer M Ilyas, Ujwala Maheswari
doaj   +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

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

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Extradural Analgesia and Ichthyosis [PDF]

Obstetric Anesthesia Digest, 1984
SummaryExtradural analgesia is well established for relief of pain but in certain cases unusual difficulties may be encountered. We report our experiences of a patient with congenital ichthyosis who required extradural analgesia for the relief of pain in labour.
E.G. Bradshaw, G. Smart
openaire   +4 more sources