scholarly journals Management of a collodion baby – Our experience

2019 ◽  
Vol 1 ◽  
pp. 101-103
Author(s):  
S. Anjana ◽  
Kunjumani Sobhanakumari ◽  
Rony Mathew ◽  
Rani Mathew
Keyword(s):  
Quality Of Life ◽  
Autosomal Recessive ◽  
Transient Condition ◽  
Excellent Response ◽  
Therapeutic Modalities ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis ◽  
Collodion Baby

Collodion baby is a transient condition in newborns where they are covered in a taut, shiny membrane. Later, it can evolve into any form of autosomal recessive congenital ichthyosis or other ichthyosiform syndromes. Retinoids are one of the most effective therapeutic modalities for ichthyosis and have been found to be safe in neonates. Hence, early and judicious use of retinoids can significantly improve the quality of life in severe ichthyosis. Herein, we report a case of congenital ichthyosis which showed an excellent response to acitretin therapy.

Two Cases of Autosomal Recessive Congenital Ichthyosis due toCYP4F22Mutations: Expanding the Genotype of Self-Healing Collodion Baby

2015 ◽  
Vol 33 (2) ◽  
pp. e48-e51 ◽  
Author(s):  
Lucero Noguera-Morel ◽  
Marta Feito-Rodríguez ◽  
Paola Maldonado-Cid ◽  
Sixto García-Miñáur ◽  
Erik-Jan Kamsteeg ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Self Healing ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis ◽  
Collodion Baby

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

Life ◽  
2021 ◽  
Vol 11 (7) ◽  
pp. 624
Author(s):  
Pálma Anker ◽  
Norbert Kiss ◽  
István Kocsis ◽  
Éva Czemmel ◽  
Krisztina Becker ◽  
...  
Keyword(s):  
Genetic Diseases ◽  
Severity Index ◽  
Severe Form ◽  
Heterozygous Mutation ◽  
Lipoxygenase Pathway ◽  
Severe Condition ◽  
Skin Changes ◽  
Congenital Ichthyosis ◽  
Autosomal Recessive Congenital Ichthyosis ◽  
Collodion Baby

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.

scholarly journals Stigma and cystic fibrosis

2010 ◽  
Vol 18 (1) ◽  
pp. 139-142 ◽  
Author(s):  
Tainá Maues Peluci Pizzignacco ◽  
Débora Falleiros de Mello ◽  
Regina Aparecida Garcia de Lima
Keyword(s):  
Quality Of Life ◽  
Cystic Fibrosis ◽  
Chronic Disease ◽  
Children And Adolescents ◽  
Treatment Adherence ◽  
Family Relationships ◽  
Life Histories ◽  
Autosomal Recessive ◽  
Family Members

Cystic Fibrosis (CF), also known as Mucoviscidosis, is a chronic disease of autosomal recessive origin and so far incurable. This analysis considers some characteristics of patients and family members that indicate it is a stigmatizing disease. The CF stigma’s impact on the lives of children and adolescents can affect treatment adherence, socialization, family relationships and the formation of their life histories, with direct consequences on their quality of life.

scholarly journals Effectiveness of Tocilizumab after switching from intravenous to subcutaneous formulation in patients with rheumatoid arthritis: A single-centre experience

2021 ◽  
Vol 38 (3) ◽  
pp. 247-256
Author(s):  
Sonja Stojanović ◽  
Bojana Stamenković ◽  
Jovan Nedović ◽  
Ivana Aleksić ◽  
Jovana Cvetković
Keyword(s):  
Quality Of Life ◽  
Rheumatoid Arthritis ◽  
Drug Administration ◽  
Joint Destruction ◽  
Drug Formulation ◽  
Life Assessment ◽  
Drug Effectiveness ◽  
Therapeutic Modalities ◽  
Number Of Patients

Nowadays, the appropriate control of rheumatoid arthritis (RA) involves the absence of clinical disease activity, delaying joint destruction as long as possible and adequate quality of life of the affected. With currently available therapeutic modalities, this therapeutic goal can be achieved in a large number of patients. The aim of this research was to determine the effectiveness of an IL-6 blocker (Tocilizumab) in patients with RA in everyday clinical practice. We also analyzed whether a change in the mode of drug administration (switching from intravenous to subcutaneous drug formulation) had an impact on drug effectiveness (using the DAS 28 SE and CDAI indexes) and quality of life of patients with RA (HAQ, Beck Depression Inventory, FACIT F score and SF 36 questionnaire). The study included 53 subjects diagnosed with RA, treated with Tocilizumab. After a six-month use of subcutaneous Tocilizumab, we concluded that the method of drug administration did not have an impact on its effectiveness and on all the examined parameters of quality of life assessment.

scholarly journals Mutations in Transglutaminase 1 Gene in Autosomal Recessive Congenital Ichthyosis in Egyptian Families

2004 ◽  
Vol 20 (6) ◽  
pp. 325-332 ◽  
Author(s):  
R. M. Shawky ◽  
N.S. Sayed ◽  
N.A. Elhawary
Keyword(s):  
Restriction Endonuclease ◽  
Splice Site ◽  
Autosomal Recessive ◽  
Splice Mutation ◽  
The Other ◽  
Splice Acceptor ◽  
Acceptor Splice Site ◽  
Congenital Ichthyosis ◽  
Transglutaminase 1 ◽  
Autosomal Recessive Congenital Ichthyosis

Autosomal recessive congenital ichthyosis (ARCI) is a rare heterogeneous keratinization disorder of the skin. It is clinically divided into 2 subtypes, lamellar ichthyosis (LI) and congenital ichthyosiformis erythroderma (CIE). We investigated forty-three ARCI Egyptian individuals in 16 severe LI, and 10 CIE families. We identified 5 alleles in two Egyptian families as having intron-5/exon-6 splice acceptor mutation recognized by theMspIrestriction endonuclease. This promoted to a frequency of 9.6% for this mutation (5 splice-mutation alleles/52 alleles tested). We extended our previous dataset to update the detection of R142H mutation in 4 CIE Egyptian families and one LI phenotype (frequency of 28.8%; 15/52), whereas we still had no R141H among our Egyptian population. There was no correlation between phenotype and genotype in our study. Surprisingly, the mutant alleles detected in intron-5 acceptor splice-site were associated with the other extreme of CIE phenotypes rather than the severe LI form. We clearly demonstrated that the ARCI Egyptian families in Upper Egypt was ethnically pure and had a tendency not to be a hybrid with other populations in Lower Egypt, Delta zone and Cairo city.

Autosomal recessive congenital ichthyosis: Genomic landscape and phenotypic spectrum in a cohort of 125 consanguineous families

2019 ◽  
Vol 40 (3) ◽  
pp. 288-298 ◽  
Author(s):  
Leila Youssefian ◽  
Hassan Vahidnezhad ◽  
Amir Hossein Saeidian ◽  
Andrew Touati ◽  
Soheila Sotoudeh ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Congenital Ichthyosis ◽  
Phenotypic Spectrum ◽  
Genomic Landscape ◽  
Autosomal Recessive Congenital Ichthyosis
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