Results 41 to 50 of about 18,146 (216)

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

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

Maximal use of 0.05% topical isotretinoin in patients with congenital ichthyosis results in low systemic exposure

British Journal of Clinical Pharmacology, EarlyView.
Abstract Congenital ichthyoses (CI) are rare, inherited skin disorders characterized by hyperkeratosis, scaling and fissuring that significantly impair patients' quality of life. Treatment options are limited, with systemic retinoids reserved for severe cases owing to their adverse effect profile.
Holm Schneider, Christopher G. Bunick, Kathrin Hillmann, Thy N. Huynh, Steven Kempers, Nicolai Peschel, Ulrike Blume‐Peytavi, Joyce M. C. Teng, Alan M. Mendelsohn, John Stinson, Lara Wine Lee   +10 more
wiley   +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

Ichthyosis Fetalis

Paediatrica Indonesiana, 2017
A severe variety of ichthyosis fetalis or Harlequin fetus is reported with a brief review of the literature. It seemed that our case, Tadjuddin's (Jakarta), and Wong Hock Boon's (Singapore) assure us that the Harlequin fetus can also be seen in the tropics and in all traces where the ichthyosis gene is present.
, Rusdidjas, H, Siregar, S, Tarigan
openaire   +3 more sources

Oral Manifestation of Autosomal Recessive Congenital Ichthyosis in a 2-Year-Old Patient

Case Reports in Dentistry, 2014
Ichthyosis is a heterogeneous family of hereditary keratinisation disorders mostly characterized by variable erythema of the whole body and different scaling patterns.
Kavitha Ramar, Sankar Annamalai, V. P. Hariharavel, R. Aravindhan, C. Ganesh, K. Ieshwaryah   +5 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

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

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

Case report of two brothers with a novel homozygous mutation in ALOX12B leads to autosomal recessive congenital ichthyosis: Which type and which subtype? Two siblings with a novel homozygous mutation in ALOX12B

Dermatologica Sinica, 2019
Ichthyosis is a heterogeneous group of rare genetic skin disorders characterized by furfuraceous and dry skin. The classification of ichthyosis has always been a challenging process as genodermatoses.
Evren Gumus
doaj   +1 more source