ISSN - 0973-0958
Menu
Disease
A-Z
Health Topics
Alternative Medicine
Developmental Pediatrics
General Pediatrics
Genetics
Immunodeficiencies
Infectious Diseases
Laboratory Medicine
Neonatology
Nutrition
Pediatric Cardiology
View all Topics
Featured Articles
Hypospadias
Anal fissure
Diabetic ketoacidosis
Circumcision
Anaphylaxis
Anal itching
Kids Corner
Health and Knowledge with fun.
Drugs &
Calculators
Medical Calculators
Drug Calculators
Growth Calculators
Renal Calculators
View all Calcualtors
Drug Index
ACE inhibitor
Alkylating agents
Allergies
View all Drugs
Poisoning Center
Aluminum phosphide
Anti-histaminics
Antidepressants
View all Drugs
Medical Eqipments
Monitors
Pumps
Incubators
View all Equipments
Diagnostic Aid
Get your diffrential
diagnosis.
Consult
& Posts
Ask a Doctor
Diagnostic Dilemma
Question of the Week
Pediatric Blogs
Spot Diagnosis
Grand Rounds
Pedi Poll
Pediatric
Journal
Current Issue
All Issues
Advance Access
About the Journal
Submit Article
Books
& Apps
Book Store
Pediatric Oncall
Medical Calculators
Vaccine Reminder
Pediatric Oncall Journal
Drug Center
Parenting
CME &
Videos
Upcoming Conferences
Conference Abstracts
MCQs
Videos
Vaccine
Reminder
Sign In
Pediatric Oncall Journal
Home
Articles & Issues
Current Issue
All Issues
Advance Access
About
Pediatric Oncall Journal
Editorial Board
Peer Review Policy
Other Policies
Copyrights
Privacy Statement
Contribute
Open Access Statement
Authorship & Acknowledgment
Author Guidelines
Forms
Submit Manuscript
Lamellar Ichthyosis in a Female Neonate with a Novel Mutation on TGM1 Gene
Abstract
Full Text
PDF
Advance Access
ARTICLE HISTORY
Received 20 December 2021
Accepted 14 January 2022
DOI:
https://doi.org/10.7199/ped.oncall.2023.15
CITE THIS ARTICLE
Cardoso A F H, Belinha F O, Ratola A, Henriques R. Lamellar Ichthyosis in a Female Neonate with a Novel Mutation on TGM1 Gene. Pediatr Oncall J. 2022 Jan 14. doi: 10.7199/ped.oncall.2023.15
Submission Center
Contribute
Journal Subscription
Pediatric Oncall Journal
Subscribe Now
Pediatric Oncall Journal View Article
CASE REPORTS
Lamellar Ichthyosis in a Female Neonate with a Novel Mutation on TGM1 Gene
Ana Francisca Henriques Cardoso
1
, Flávia Oliveira Belinha
2
, Ana Ratola
3
, Raquel Henriques
3
.
1
Pediatric Department, Centro Hospitalar de Leiria, Leiria, Portugal,
2
Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal,
3
Maternidade Daniel de Matos, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Show affiliations
Abstract
Congenital ichthyosis comprise a group of genetic disorders caused by mutations in the keratinocyte differentiation and consequent disruption of the skin barrier function. Autosomal recessive congenital ichthyosis is a heterogeneous, non-syndromic subgroup characterized by a defect in skin cornification, hyperkeratosis, scaling and erythroderma. The term collodion baby encompasses neonates wrapped at birth in a shiny collodion membrane that peels away in the first weeks of life and is gradually replaced by the definitive phenotype. We report a case of a collodion baby that progressed to a lamellar ichthyosis (LI) with a novel mutation of the TGM1 gene that has not been reported in the literature. This case highlights the need to expand the spectrum of TGM1 mutations in order to understand the etiopathogenesis of LI.
READ FULL TEXT
This work is licensed under a
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License
Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.
X
Sign In
Disease A-Z
Health Topics
Alternative Medicine
Developmental Pediatrics
General Pediatrics
Genetics
Immunodeficiencies
Infectious Diseases
Laboratory Medicine
Neonatology
Nutrition
Pediatric Cardiology
View all topics
Featured Articles
Hypospadias
Anal fissure
Diabetic ketoacidosis
Circumcision
Anaphylaxis
Anal itching
Kids Corner
Drugs & Calculators
Medical Calculators
Drug Calculators
Growth Calculators
Renal Calculators
View all Calculators
Drug Index
ACE inhibitor
Alkylating agents
Allergies
View all Drugs
Poisoning Center
Aluminum phosphide
Anti-histaminics
Antidepressants
View all Drugs
Medical Eqipments
Monitors
Pumps
Incubators
View all Eqipments
Diagnostic Aid
Consult & Posts
Ask a Doctor
Diagnostic Dilemma
Question of the Week
Pediatric Blogs
Spot Diagnosis
Grand Rounds
Pedi Poll
Pediatric Oncall Journal
Current Issue
All Issues
Advance Access
About the Journal
Submit Article
Books & Apps
Book Store
Pediatric Oncall
Medical Calculators
Vaccine Reminder
Pediatric Oncall Journal
Drug Center
Parenting
CME & Videos
Upcoming Conferences
Conference Abstracts
MCQs
Videos
Vaccine Reminder
0
0
0
0
0
0
0
0
0
0
0
0
0
0
0
0