Results 21 to 30 of about 50,551 (154)

Quality of life among pediatric patients and their families suffering from congenital ichthyosis - A cross-sectional study

Indian Journal of Paediatric Dermatology, 2022
Introduction: Ichthyosis are a heterogeneous group of hereditary skin disorders characterized by dryness, hyperkeratosis, and desquamation. The purpose of this study was to evaluate quality of life (QoL) of patients with ichthyosis and their families ...
Priyanka Hemrajani, B C Sharath Kumar, Mona Sharma   +2 more
doaj   +1 more source

Vitamin D Status in Distinct Types of Ichthyosis: Importance of Genetic Type and Severity of Scaling

Acta Dermato-Venereologica, 2021
Data on vitamin D status of patients with inherited ichthyosis in Europe is scarce and unspecific concerning the genetic subtype. This study determined serum levels of 25-hydroxyvitamin D3 (25(OH)D3) in 87 patients with ichthyosis; 69 patients were ...
Mi-Ran Kim, Vinzenz Oji, Frederic Valentin, Heiko Traupe, Jerzy-Roch Nofer, Ingrid Hausser, Hans Christian Hennies, Katja Eckl, Stefan A. Wudy, Alberto Sánchez-Guijo, Laura Kerschke, Judith Fischer, Kira Süßmuth   +12 more
doaj   +1 more source

Congenital ichthyosis presentation and outcome - A case series

Journal of Family Medicine and Primary Care, 2023
The ichthyosis, also called disorders of keratinization or cornification, are heterogeneous group of disorders characterized by a generalized scaling of the skin of varying severity.
Qudsiya A. Ansari, Vinaya A. Singh, Kailas G. Randad, Prasoon Bansal   +3 more
doaj   +1 more source

Lamellar Ichthyosis with Bilateral Ectropion [PDF]

, 2016
Lamellar ichthyosis is a rare congenital disorder with ocular manifestation resulting from the cicatrization of anterior lamella of eyelids. Early diagnosis and management of ectropion can prevent the most severe complications such as severe dry eyes ...
Sharma, Reena, Jain, Vaibhav Kumar, Jain, Gunjan, Sharma, Indra Kumar, Verma, Ganesh Kumar   +4 more
core   +1 more source

Distinguishing ichthyoses by protein profiling.

PLoS ONE, 2013
To explore the usefulness of protein profiling for characterization of ichthyoses, we here determined the profile of human epidermal stratum corneum by shotgun proteomics.
Robert H Rice, Katie M Bradshaw, Blythe P Durbin-Johnson, David M Rocke, Richard A Eigenheer, Brett S Phinney, Matthias Schmuth, Robert Gruber   +7 more
doaj   +1 more source

Collodion Baby: A Clinical Enigma [PDF]

Indian Journal of Neonatal Medicine and Research, 2019
Collodion baby is a term used for neonates in whom the body surface is covered by thick skin sheets, appearing like a translucent, tight parchment paper.
Sonam Singh, Sumita Mehta, Tarun K Ravi, Anshuja Singla, Ankita Mann   +4 more
doaj   +1 more source

Familial Lamellar Ichthyosis in 6 Years Old and 2 Years Old Children: A Rare Case Report [PDF]

, 2023
Background: Lamellar ichthyosis (LI) is a rare non-syndromic congenital ichthyosis and is autosomal recessive. LI patients are generally born with abnormalities of keratinization, then develop into lamellar scales and persist into adulthood.
Suci Widhiati, Ellistasari, Endra Yustin, Ervina Rosmarwati   +2 more
core   +1 more source

Photoletter to the editor: Lamellar ichthyosis and arthrogryposis in a premature neonate. [PDF]

J Dermatol Case Rep, 2015
Lamellar ichthyosis is a rare congenital disorder characterized by collodion membrane at birth and facial anomalies (eclabium and ectropion). The major underlying genetic defect is in TGM1, with mutations of this gene found in 50% of patients.
De Leonibus C, Lembo C, Santantonio A, Fioretti T, Rojo S, Salvatore F, De Vivo M, Esposito G, Giliberti P.   +8 more
europepmc   +2 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

Lamellar Icthyosis – A case Report [PDF]

Journal of Clinical and Diagnostic Research, 2014
Autosomal recessive congenital ichthyosis is a heterogenous group of disorders that are present at birth with generalized involvement of skin and lack of other organ systems.
Pranitha V, Thimma Reddy B.V, Daneswari V, Sudhanwa N Deshmukh   +3 more
doaj   +1 more source