Results 41 to 50 of about 18,577 (227)

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

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

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

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   +2 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

Electroclinical phenotypes—genetic characterization of developmental and epileptic encephalopathies in a cohort study

Epileptic Disorders, EarlyView.
Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman, Fulya Kurekci, Sinan Akbas, Ceyda Oney, Mehmet Akif Kilic, Hulya Maras Genc, Ayca Dilruba Aslanger, Edibe Pembegul Yildiz   +7 more
wiley   +1 more source

X-linked ichthyosis associated with psychosis and behavioral abnormalities: a case report

Journal of Medical Case Reports, 2017
Background X-linked ichthyosis is a dermatological condition caused by deficiency for the enzyme steroid sulfatase. Previously, X-linked ichthyosis/steroid sulfatase deficiency has been associated with developmental and neurological phenotypes.
Amna Malik, Ahmed Bait Amer, Mohammed Salama, Bander Haddad, Muhammad T. Alrifai, Mohammed Al Balwi, William Davies, Wafaa Eyaid   +7 more
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