Browse
Submit Data
Databases
API
Help

Dataset Information

8 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Ischemic Risk in Collodion Baby: An Orthopaedic Perspective.

ABSTRACT: Collodion baby is a rare condition in which the baby is born surrounded by membranes called collodion membranes. The evolution of these membranes is towards cracking and peeling. Sometimes, retraction leads to hypoperfusion or ischemia (especially of fingers and toes). In case of acute ischemia, surgery is necessary. We report the case of a newborn in which surgery was necessary to free both fingers and toes from constrictive bands responsible for ischemia. In the absence of surgery, the constrictive bands can lead to amputation (pseudoainhum). The purpose of this case report is to expose the management and the role of an orthopaedic surgeon in the treatment of a collodion baby.

SUBMITTER: Besonhe P

PROVIDER: S-EPMC6988661 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Ischemic Risk in Collodion Baby: An Orthopaedic Perspective.

Besonhe Pauline P Docquier Pierre-Louis PL

Case reports in orthopedics 20200116

Collodion baby is a rare condition in which the baby is born surrounded by membranes called collodion membranes. The evolution of these membranes is towards cracking and peeling. Sometimes, retraction leads to hypoperfusion or ischemia (especially of fingers and toes). In case of acute ischemia, surgery is necessary. We report the case of a newborn in which surgery was necessary to free both fingers and toes from constrictive bands responsible for ischemia. In the absence of surgery, the constri ...[more]

PMID: 32015921

Similar Datasets

Collodion Baby with TGM1 gene mutation.

Project description:Collodion baby (CB) is normally diagnosed at the time of birth and refers to a newborn infant that is delivered with a lambskin-like membrane encompassing the total body surface. CB is not a specific disease entity, but is a common phenotype in conditions like harlequin ichthyosis, lamellar ichthyosis, nonbullous congenital ichthyosiform erythroderma, and trichothiodystrophy. We report a CB that was brought to our department and later diagnosed to have TGM1 gene c.984+1G>A mutation. However, it could not be ascertained whether the infant had lamellar ichthyosis or congenital ichthyosiform erythroderma (both having the same mutation). The infant was lost to follow-up.

| S-EPMC4590349 | biostudies-literature

Congenital Ichthyosis - Collodion Baby Case Report.

Project description: Not available

| S-EPMC4963732 | biostudies-literature

Report of a Novel ALOX12B Mutation in Self-Improving Collodion Ichthyosis with an Overview of the Genetic Background of the Collodion Baby Phenotype.

Project description:Collodion baby is a congenital, transient phenotype encountered in approximately 70-90% of autosomal recessive congenital ichthyosis and is an important entity of neonatal erythroderma. The clinical outcome after this severe condition is variable. Genetic mutations of components of the epidermal lipoxygenase pathway have been implicated in the majority of self-improving collodion ichthyosis (SICI). In SICI, the shedding of the collodion membrane reveals clear skin or only mild residual manifestation of ichthyosis. Here we report the case of a girl born with a severe form of collodion baby phenotype, whose skin almost completely cleared within the first month of life. At the age of 3 years, only mild symptoms of a keratinization disorder remained. However, the severity of erythema and scaling showed mild fluctuations over time. To objectively evaluate the skin changes of the patient, we assessed the ichthyosis severity index. Upon sequencing of the ALOX12B gene, we identified a previously unreported heterozygous nonsense mutation, c.1607G>A (p.Trp536Ter) with the recurrent, heterozygous mutation c.1562A>G (p.Tyr521Cys). Thereby, our findings expand the genotypic spectrum of SICI. In addition, we summarize the spectrum of further genetic diseases that can present at birth as collodion baby, in particular the SICI.

| S-EPMC8304297 | biostudies-literature

Collodion baby treated at a tertiary hospital in Tanzania: a case report.

Project description:BACKGROUND:The term "collodion baby" is used to describe a newborn covered with a translucent, parchment-like skin sheet. It is an extremely rare condition with an estimated incidence of 1 in 300,000 live births. Clinically, the baby will present with a collodion membrane with fissures, ectropium, eclabium, and hypoplastic digits. Shedding of the membrane increases risk of dehydration and infection. CASE PRESENTATION:We present the case of an African baby girl, who died when she was 7-months old, who presented with features of collodion membrane at birth. She later developed hypernatremic dehydration and a constricted band on her lower limb that required urgent surgical release. She stayed in our hospital for 35 days; she was then discharged home after improvement for 6 months of follow-up clinics at Muhimbili National Hospital: neonatal; dermatology; ear, nose, and throat; and physiotherapy units. She died at 7 months of age. CONCLUSION:Despite limited resources, the early survival of these babies can be improved by providing basic care.

| S-EPMC6311898 | biostudies-other

A collodion baby with facial dysmorphism, limb anomalies, pachygyria and genital hypoplasia: a mild form of Neu-laxova syndrome or a new entity?

Project description:Neu-Laxova syndrome is a rare, lethal, autosomal recessive disorder characterized by intrauterine growth retardation, central nervous system anomalies, skin findings, such as ichthyosis, edema, collodion baby and harlequin fetus, facial dysmorphic features, limb anomalies and genital hypoplasia. Although it is generally a lethal condition, cases of such patients who lived beyond 6 months and 10 months of age have been reported. Here, we describe an 8-year-old boy who was born with collodion membrane, facial dysmorphic features, limb anomalies, genital hypoplasia and pachygyria. He had no major health problems over the course of 8 years of follow-up, except for mild mental/motor retardation, ichthyosis, facial dysmorphic features and limb anomalies. Based on these features, we suggest that because Neu-Laxova syndrome represents a heterogeneous phenotype, our case may be a milder variant of this syndrome or a new genetic entity.

| S-EPMC3870219 | biostudies-literature

Endothelial progenitor cells: therapeutic perspective for ischemic stroke.

Project description:Endothelial progenitor cells (EPCs), which can be cultured in vitro from mononuclear cells in peripheral blood or bone marrow, express both hematopoietic stem cell and endothelial cell markers on their surface. They are believed to participate in endothelial repair and postnatal angiogenesis due to their abilities of differentiating into endothelial cells and secreting protective cytokines and growth factors. Mounting evidence suggests that circulating EPCs are reduced and dysfunctional in various diseases including hypertension, diabetes, coronary heart disease, and ischemic stroke. Therefore, EPCs have been documented to be a potential biomarker for vascular diseases and a hopeful candidate for regenerative medicine. Ischemic stroke, as the major cause of disability and death, still has limited therapeutics based on the approaches of vascular recanalization or neuronal protection. Emerging evidence indicates that transplantation of EPCs is beneficial for the recovery of ischemic cerebral injury. EPC-based therapy could open a new avenue for ischemic cerebrovascular disease. Currently, clinical trials for evaluating EPC transfusion in treating ischemic stroke are underway. In this review, we summarize the general conceptions and the characteristics of EPCs, and highlight the recent research developments on EPCs. More importantly, the rationale, perspectives, and strategies for using them to treat ischemic stroke will be discussed.

| S-EPMC4043291 | biostudies-literature

Ischemic Preconditioning And Myocardial Infarction: An Update and Perspective.

Project description:Myocardial infarction is the leading cause of mortality in Western societies with annual expenditures of $431.8 billion spent on coronary artery disease in man. Therapeutics to combat infarction from myocardial injury, based on studies of ischemic preconditioning (IPC), are currently in progress. Hence, this review provides an update on IPC, including general and molecular mechanisms responsible for IPC and the effects of IPC in models of aging or disease. A summary of therapeutics shown to possess efficacy in preclinical and clinical trials and future directions of studies regarding cardiac IPC are also discussed.

| S-EPMC2515553 | biostudies-literature

Baby project

Project description:Dynamics of the gut microbiota during the first year of life

| PRJEB49858 | ENA

Baby microbiome

Project description:Mutualism between gut microbiota and the host as revealed in a comparative study of breast-fed versus formula-fed infants.

| PRJEB2778 | ENA

Orthopaedic surgeons' perspective on the implementation of outpatient hip and knee arthroplasty - Results of a nationwide survey.

Project description:BackgroundOutpatient joint arthroplasty (OJA) for the hip and knee is gaining popularity among orthopaedic surgeons worldwide. The purposes of this study were to (1) assess the proportion of Dutch orthopaedic surgeons who perform OJA; (2) identify surgeons' willingness to implement OJA in the future; (3) identify reasons and barriers to implement OJA; and (4) gather surgeon's perspective on the implementation of OJA.MethodsA 20-item survey was developed and administered by email to orthopaedic surgeons who are a member of the Dutch Hip Society and Dutch Knee Society. Survey response rate was 40% (N = 123).ResultsTwenty-two respondents (18%) already implemented OJA, and 46% of respondents (who don't perform OJA) were interested to implement OJA in the future. Reasons to perform OJA included own positive experiences (82%), available evidence (77%) and patients' request (77%). Proponents' and opponents' view on safety and added value conflicted with each other. Other barriers included patient selection and organizational related (e.g., multidisciplinary support). Surgeons' view on evolution and relevance of OJA significantly differed by respondents who perform OJA versus respondents who don't perform OJA. Most respondents agreed with one another that the healthcare institution benefits most from OJA, and that optimization of the arthroplasty pathway could be reached through better patient education and -participation (e.g., eHealth, wearables).ConclusionOne in five respondents currently implement OJA pathways, and about half of the remaining respondents are interested to implement OJA in the future. OJA-opponents aren't convinced of the value and safety of OJA, despite accumulating evidence supporting OJA. Future research should inform patient-selection and -acceptance and organizational implementation.

| S-EPMC9079766 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data