Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.annder.2018.06.007 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients.
Dermatology
June 2024
Dermatology Unit and Genodermatosis Unit, Translational Paediatrics and Clinical Genetics Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Article Synopsis
- - Autosomal recessive congenital ichthyoses (ARCIs) are a group of skin disorders marked by scaling due to mutations in at least 12 different genes, with this study aiming to explore disease characteristics and their link to genetic factors.
- - The research involved 74 patients, primarily affected by lamellar ichthyosis and congenital ichthyosiform erythroderma, leading to the discovery of 25 new mutations and specific associations between mutations and clinical symptoms, such as alopecia and thick scales linked to particular gene mutations.
- - The findings highlighted that patients with mutations in TGM1 and ABCA12 had more severe symptoms compared to those with other mutations, while unique skin features were observed in NIPAL4-mut
A cross-sectional study on the prevalence and determinants of various neonatal dermatoses.
J Family Med Prim Care
November 2023
Department of Dermatology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education and Research, Wardha, Maharashtra, India.
Article Synopsis
- Neonates are more vulnerable to skin infections during their first week, making early diagnosis and management of dermatological conditions critical for their health.
- A study involving 474 neonates in a neonatal intensive care unit assessed various skin changes, documenting individual and multiple types of dermatoses and their prevalence.
- The results showed that 81.01% of infants had more than one dermatosis, with common conditions including sebaceous gland hyperplasia (22.15%) and Epstein pearls (10.54%).
Prenatal ultrasound detection of collodion membrane in association with an autosomal recessive congenital ichthyosis due to transglutaminase 1 deficiency.
Pediatr Dermatol
May 2024
Division of Neonatology and Neonatal Intensive Care Unit, Azienda USL Toscana Centro, San Giovanni di Dio Hospital, Firenze, Italy.
We describe a case of collodion baby diagnosed prenatally by ultrasound. Classic signs (ectropion, flattened nose, and eclabion) were detected on routine ultrasound at 21 weeks of gestation. At birth, the presence of collodion membrane was confirmed and subsequently, the diagnosis of an autosomal recessive congenital ichthyosis due to compound heterozygosity of the TGM1 gene was made.
View Article and Find Full Text PDFSuccessful Treatment of an Adult with Atopic Dermatitis and Lamellar Ichthyosis Using Dupilumab.
Biologics
June 2022
Dermatology Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Lamellar ichthyosis (LI) is a rare autosomal cornification disorder, with most cases due to a mutation in the transglutaminase-1 (TGM1) gene on chromosome 14. Patients with LI usually present with a collodion membrane and mild erythroderma at birth, with the collodion membranes shedding within the first weeks of life and being replaced by a generalized scale. Typically, LI is managed with oral retinoids, emollients, and keratolytic agents, eg, lactic acid.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!