scholarly journals Harlequin fetus – Icthyosis fetalis: Case report

2021 ◽  
Author(s):  
Senai Sereke ◽  
Semhar Berhe ◽  
Felix Bongomin
Keyword(s):  
Case Report ◽  
Severe Form ◽  
Congenital Ichthyosis ◽  
Scaly Skin

We are presenting a newborn with a very rare and most severe form of congenital ichthyosis that is characterized by a thick, heavily keratinized and scaly skin.

scholarly journals A Case Report on Congenital Ichthyosis - Collodion Baby

2016 ◽  
Vol 11 (1) ◽  
pp. 39-42
Author(s):  
Md Kamrul Hassan ◽  
Aloke Kumar Saha ◽  
Poly Begum ◽  
Tahmina Akter ◽  
Shyamol Kumar Saha
Keyword(s):  
Case Report ◽  
Initial Phase ◽  
Severe Form ◽  
Clinical Entity ◽  
Self Healing ◽  
Lamellar Ichthyosis ◽  
Congenital Ichthyosis ◽  
Ichthyosis Vulgaris ◽  
Collodion Baby ◽  
Lamellar Type

Collodion baby describes a highly characteristic clinical entity in newborns encased in a yellowish translucent membrane resembling collodion. In most cases the condition either precedes the development of one of a variety of ichthyoses, the commonest of which are lamellar ichthyosis and non-bullous ichthyosiform erythroderma, or occasionally represents an initial phase of other ichthyoses such as ichthyosis vulgaris. In at least 10% of all cases of collodion baby, the condition is followed by a mild ichthyosis of lamellar type, so mild as to be considered more or less normal, so-called self-healing collodion baby or 'lamellar ichthyosis of the newborn'. In this report, we present a severe form of ichthyosis.Faridpur Med. Coll. J. Jan 2016;11(1): 39-42

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 A Case Study on Management of Rett Syndrome by Wholistic approach

2020 ◽  
Vol 11 (2) ◽  
pp. 351-357
Author(s):  
Renu Rathi ◽  
Bharat Rathi ◽  
Rakesh Khatana ◽  
Suraj Sankh
Keyword(s):  
Case Report ◽  
Rett Syndrome ◽  
Motor Development ◽  
Autism Spectrum ◽  
Severe Form ◽  
Fine Motor ◽  
Gross Motor ◽  
Gross Motor Development

Background: Rett syndrome-RS comes under Autism spectrum disorder-ASD which is a neurodevelopmental syndrome. It is diagnosed by the main differentiating features of lack of interpersonal and communication skills, poor eye contact, delayed speech with pervasive abnormal body movements. Aim and Objectives: This case report is aimed at dissemination of comprehensive role of Ayurveda in management of ASD, Rett syndrome. Material and Methods: RS is the severe form of ASD. This case study of 2.3 year’s girl presented with RS and global delay, being treated with wholistic approach. It comprises Ayurveda chikitsa and other therapies like Yoga, hydrotherapy, occupational, music, physiotherapy and many more. Observation and Result: Patient has shown promising results in all developmental milestones such as gross motor, fine motor and personal social in 6 months duration except language. Different varieties of massage therapy, diet and Basti, Nasya (Panchkarma) procedures, Omkar mantra chanting, passive Yogasana were done. Conclusion: In this case report, mainly Ayurveda interventions were implemented with wholistic approach as an adjuvant, received good result in gross motor development which is very difficult in RS, hence it is a unique case. It also opened the door of wholistic approach with the hope to deliver the good result in similar disorders.

A Severe Form of Pediatric Visceral Leishmaniasis - A Case Report

2021 ◽  
Vol 4 (1) ◽  
Author(s):  
Vardan Gevorgyan Nazeli ◽  
Valeri Apresyan Hripsime
Keyword(s):  
Case Report ◽  
Visceral Leishmaniasis ◽  
Severe Form

scholarly journals Syringohydromyelia associated to therapeutic procedures for severe forms of neurocysticercoses: case report

2004 ◽  
Vol 62 (3b) ◽  
pp. 885-888
Author(s):  
Donizeti Honorato ◽  
Wilson Borges ◽  
Antonio Augusto Roth Vargas ◽  
Ricardo Ramina
Keyword(s):  
Spinal Cord ◽  
Cerebrospinal Fluid ◽  
Case Report ◽  
Posterior Fossa ◽  
Central Canal ◽  
Severe Form ◽  
Surgical Decompression ◽  
Therapeutic Procedures ◽  
Surgical Treatments ◽  
Progressive Paraparesis

Syringohydromyelia is defined as a longitudinal dilatation of the central canal of the spinal cord with accumulated cerebrospinal fluid. This condition may cause neurologic deficits when the cavity enlarges and compresses the spinal cord. We present the case of a 33 years-old female with progressive paraparesis caused by syringohydromyelia. This patient underwent previously multiple clinical and surgical treatments for severe form of neurocysticercosis. Surgical decompression of the posterior fossa and syringostomy resolved the neurologic symptoms. The possibility of syringohydromyelia should be considered in the case of patients who have previously undergone surgical and clinical treatment for severe form of neurocysticercosis.

Toxic Epidermal Necrolysis. A case report

2010 ◽  
Vol 35 (2) ◽  
pp. 197-198 ◽  
Author(s):  
Patricia Villalta ◽  
Ines Velez ◽  
Lina Mejia ◽  
Ana Maria Ospina
Keyword(s):  
Hearing Loss ◽  
Case Report ◽  
Toxic Epidermal Necrolysis ◽  
Immune Reaction ◽  
Extreme Case ◽  
Severe Form ◽  
Stevens Johnson Syndrome ◽  
Johnson Syndrome

We present an extreme case of Toxic Epidermal Necrolysis, which corresponds to a severe form of Stevens Johnson Syndrome. This is a potentially fatal immune reaction that affects skin and mucosa, producing blisters and sloughing of the epithelium. Severe sequelae, including blindness, hearing loss, tooth malformation and esophageal destruction are seen in this case.

scholarly journals Nasopharyngeal chordoma in a patient with a severe form of sleep-disordered breathing: A case report

2015 ◽  
Vol 10 (3) ◽  
pp. 1805-1809
Author(s):  
JOANNA RADZIKOWSKA ◽  
ZUZANNA GRONKIEWICZ ◽  
ANDRZEJ KUKWA ◽  
WOJCIECH LISIK ◽  
ANNA M. CZARNECKA ◽  
...  
Keyword(s):  
Case Report ◽  
Sleep Disordered Breathing ◽  
Severe Form ◽  
Disordered Breathing

scholarly journals Severe Form of Bacterial Meningitis After Spine Surgery: A Case Report and Review of the Literature

Cureus ◽  
2021 ◽  
Author(s):  
Anuj Gupta ◽  
Kuldeep Bansal ◽  
Harvinder Singh Chhabra ◽  
Pratyush Shahi
Keyword(s):  
Case Report ◽  
Bacterial Meningitis ◽  
Spine Surgery ◽  
Severe Form ◽  
Review Of The Literature

scholarly journals Acardiac-acephalus Twinning- A Very Rare Case Report

2020 ◽  
Vol 32 (2) ◽  
pp. 143-144
Author(s):  
Parvez Ahmed ◽  
Nasrin Begum ◽  
Mostofa Shamim Ahsan ◽  
Mosharruf Hossain ◽  
Munshi Md Arif Hosen ◽  
...  
Keyword(s):  
Case Report ◽  
Rare Case ◽  
Severe Form ◽  
Monochorionic Twin ◽  
Arterial Perfusion ◽  
Trap Sequence ◽  
Rare Case Report ◽  
Medicine Today ◽  
Twin Pregnancies ◽  
Twin Reversed Arterial Perfusion

Introduction:This study highlights a very rare case which was related to abnormal monochorionic twinning status. Case Report: This case (a 28 year old pregnant woman) came at this institute for ultrasonographic evaluation of herpregnancy status. Her ultrasonographic results were consistent with acardiac-acephalus twinning condition (which isalso known as, twin reversed arterial perfusion or TRAP sequence). Discussion: This monochorionic twin pregnancy isa severe form of twin-to-twin transfusion syndrome (TTTS) and severe TTTS has mortality rate of about 60–100%. Conclusion: This case is very rare showing prevalence of about 1/35,000 overall pregnancies and accounting 1.0% ofthe monochorionic twin pregnancies. Medicine Today 2020 Vol.32(2): 143-144

Sign in / Sign up

Export Citation Format

Share Document