[Collodion baby: clinical aspects and role of prenatal diagnosis].

Pan Afr Med J

Service de Gynécologie-Obstétrique, Hôpital Ibn Eljazzar, 3140, Kairouan, Tunisie.

Published: June 2017

Collodion baby is a severe form of congenital ichthyosis detected in neonatal period. It often has a characteristic clinical picture. When evolution is not fatal; it often causes dry Ichthyosis. Thanks to molecular biology techniques, prenatal diagnosis can be made since the 10-12 weeks of amenorrhea, allowing genetic counselling. Prognosis depends on several parameters, namely the degree of the initial manifestation, the duration of desquamation, as well as underlying Ichthyosis This rewiew of the literature which aims to clarify the diagnostic aspects and therapeutic treatment as well as the role of the antenatal diagnosis is based on a new observation of a collodion baby born at 34 weeks, of a parturient woman having an index case and of infant deaths occurring in the first day of life.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429425PMC
http://dx.doi.org/10.11604/pamj.2017.26.118.10025DOI Listing

Publication Analysis

Top Keywords

collodion baby
8
[collodion baby
4
baby clinical
4
clinical aspects
4
aspects role
4
role prenatal
4
prenatal diagnosis]
4
diagnosis] collodion
4
baby severe
4
severe form
4

Similar Publications

Background: Autosomal recessive congenital ichthyosis (ARCI) is a group of genetic skin disorders characterized by abnormal keratinization, leading to significant health issues and reduced quality of life. ARCI encompasses harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). While all ARCI genes are linked to LI and CIE, HI is specifically associated with severe mutations in the gene.

View Article and Find Full Text PDF

Collodion baby is a rare congenital condition marked by a parchment-like membrane covering the body, often leading to complications such as bilateral ectropion. This condition poses risks of exposure keratopathy and other ocular issues. We present a case series of five infants with congenital bilateral ectropion associated with collodion babies, all born prematurely.

View Article and Find Full Text PDF

A cellular disease model toward gene therapy of -dependent lamellar ichthyosis.

Mol Ther Methods Clin Dev

September 2024

Center for Regenerative Medicine "Stefano Ferrari", Department of Life Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.

Lamellar ichthyosis (LI) is a chronic disease, mostly caused by mutations in the gene, marked by impaired skin barrier formation. No definitive therapies are available, and current treatments aim at symptomatic relief. LI mouse models often fail to faithfully replicate the clinical and histopathological features of human skin conditions.

View Article and Find Full Text PDF
Article Synopsis
  • Autosomal recessive congenital ichthyosis (ARCI) is a rare skin condition primarily characterized by skin scaling and hair abnormalities, which are often overlooked regarding their impact on patients' quality of life.
  • This study involved clinical and trichoscopic examinations of 30 ARCI patients over three years, revealing that alopecia affects a significant number, with various patterns of hair loss documented among participants.
  • Notable trichoscopic findings included scaling and different hair types that correlate with the severity of ARCI, suggesting that hair health is a crucial component of this condition often underestimated in prior research.
View Article and Find Full Text PDF

Want 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!