Results 21 to 30 of about 4,560 (196)

Video Demonstration of ABCA12-Related Harlequin Ichthyosis in a Low-Resource Setting: Case Report and Review of Early Management Challenges. [PDF]

Clin Case Rep
ABSTRACT Harlequin ichthyosis is a rare, life‐threatening neonatal dermatologic emergency that can be confidently diagnosed clinically at birth. Prompt recognition and early supportive management—including thermoregulation, fluid balance, infection prevention, and intensive skin care—are crucial determinants of survival, especially in low‐resource ...
Elendu C, Amaechi DC, Elendu TC, Amaechi EC, Elendu ID, Okolo EH, Uyanwune MC.   +6 more
europepmc   +2 more sources

Identification of Novel Mutation in the <i>ABCA12</i> Gene Causing Harlequin Ichthyosis. [PDF]

Clin Case Rep
ABSTRACT Harlequin ichthyosis (HI) is an uncommon and extremely severe hereditary condition that primarily affects the skin. Infants born with this disorder display dense skin and prominent diamond‐shaped plates that cover a significant portion of their bodies.
Soltani N, Bayati Z, Soosanabadi M, Zamani A, Lotfi A, Gholami M.   +5 more
europepmc   +2 more sources

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family

Medicina, 2023
Background and Objectives: Lamellar ichthyosis is a rare skin disease characterized by large, dark brown plate-like scales on the entire body surface with minimum or no erythema.
Abdulhadi Almazroea, Ambreen Ijaz, Abdul Aziz, Muhammad Mushtaq Yasinzai, Rafiullah Rafiullah, Fazal Ur Rehman, Shakeela Daud, Rozeena Shaikh, Muhammad Ayub, Abdul Wali   +9 more
doaj   +1 more source

Ichthyosis (concept, pathohistology, clinical picture, treatment)

Vestnik Dermatologii i Venerologii, 2021
Ichthyosis is a skin disease that is hereditary, has pronounced symptoms in the form of a violation of the skin, and the presence of formations resembling fish scales.
Tatyana Gennadyevna Takhtarova, Zarema Rimovna Khismatullina, Lyudmila Dmitrievna Panova, Anastasia Nikolaevna Panova   +3 more
doaj   +1 more source

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

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

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

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

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