Related Experiment Video

Updated: Apr 9, 2026

Development of an IFN-γ ELISpot Assay to Assess Varicella-Zoster Virus-specific Cell-mediated Immunity Following Umbilical Cord Blood Transplantation
08:04

Development of an IFN-γ ELISpot Assay to Assess Varicella-Zoster Virus-specific Cell-mediated Immunity Following Umbilical Cord Blood Transplantation

Published on: July 9, 2014

16.4K

Harlequin Infant Born to a Varicella Infected Mother: A Case Report

Meyyappa Devan Rajagopal1, Pampa Ch Toi, Nishad Plakkal

  • 11Senior resident, Department of Pathology, JIPMER, Puducherry, India.

Fetal and Pediatric Pathology
|June 18, 2015
PubMed

Insights

Harlequin ichthyosis, a severe genetic skin disorder, affects 1 in a million newborns. This case highlights a rare instance in a non-consanguineous family, noting maternal chickenpox during pregnancy.

Area of Science:

  • Genetics
  • Dermatology
  • Neonatology

Background:

  • Harlequin ichthyosis is a rare, severe congenital ichthyosis with a distinct phenotype.
  • It occurs in approximately 1 in 1 million births, with over 100 cases reported.
  • The condition results from mutations in the ABCA12 gene, crucial for lipid transport and stratum corneum development.

Observation:

  • This article presents a case of a harlequin baby born to non-consanguineous parents.
  • The mother had a history of chickenpox during the first trimester of pregnancy.
  • The infant exhibited the characteristic severe physical presentation of harlequin ichthyosis.

Findings:

  • The case underscores the genetic basis of harlequin ichthyosis, linked to ABCA12 gene mutations.
  • Management typically involves supportive care and retinoid derivatives.
  • The prognosis remains poor, with most affected infants succumbing during the neonatal period.

Implications:

  • This case contributes to the limited literature on harlequin ichthyosis, particularly regarding potential environmental factors like maternal infections.
  • It emphasizes the importance of genetic counseling and early diagnosis in affected families.
  • Further research may explore the interplay between genetic predisposition and potential teratogenic exposures in congenital ichthyosis.

Keywords:
Harlequin icthyosisgenodermatosisvaricella

More Related Videos

Induction of Maternal Immune Activation in Mice at Mid-gestation Stage with Viral Mimic PolyI:C07:13

Induction of Maternal Immune Activation in Mice at Mid-gestation Stage with Viral Mimic PolyI:C

Published on: March 25, 2016

20.1K
Vaccinia Virus Infection & Temporal Analysis of Virus Gene Expression: Part 112:00

Vaccinia Virus Infection & Temporal Analysis of Virus Gene Expression: Part 1

Published on: April 8, 2009

10.7K

Related Concept Videos

Cytomegalovirus Disease01:27

Cytomegalovirus Disease

Cytomegalovirus (CMV) disease is caused by human cytomegalovirus, a double-stranded DNA virus of the Herpesviridae family. While primary CMV infection is often asymptomatic in immunocompetent individuals, the virus can cause severe disease in neonates and immunocompromised patients. CMV is the most common cause of congenital viral infection in the United States, and a major pathogen in solid organ and hematopoietic stem cell transplant recipients.CMV is transmitted via bodily fluids, sexual...
42
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
4.6K
Arboviral Encephalitis01:25

Arboviral Encephalitis

Arboviral encephalitis refers to brain inflammation caused by arthropod-borne viruses, particularly those transmitted through mosquito vectors. Among these, West Nile virus (WNV), a member of the Flaviviridae family, is a significant public health concern. WNV is an enveloped, positive-sense, single-stranded RNA virus. Human infection typically begins when an infected mosquito introduces the virus into the dermis during feeding. The primary transmission cycle involves birds as amplifying hosts...
42
Mitral Valve Prolapse III: Nursing Management01:19

Mitral Valve Prolapse III: Nursing Management

The nursing management of Mitral Valve Prolapse, or MVP, centers around patient education, symptom monitoring, and lifestyle modifications.Patient Education on MVP Diagnosis and Heredity: Nurses should provide comprehensive education about MVP, a condition where the mitral valve does not close appropriately during heartbeats. This education often includes the condition's pathophysiology, symptoms, and potential complications, like arrhythmias or mitral regurgitation. Though not fully...
535
Viral Meningitis01:18

Viral Meningitis

Viral meningitis is the most common form of meningitis and is often referred to as aseptic meningitis to indicate the absence of bacterial involvement. It is generally milder than bacterial meningitis, with symptoms including fever, headache, stiff neck, drowsiness, nausea, photophobia, and vomiting. Rarely, more severe manifestations or death may occur. Common causative agents include enteroviruses, particularly coxsackie A and B viruses and echoviruses, all members of the Enterovirus genus...
133
Acute Pharyngitis01:30

Acute Pharyngitis

Introduction
Acute pharyngitis is the inflammation of the back of the throat (pharynx), commonly resulting in a sore throat. It is a frequently encountered condition that prompts individuals to seek medical advice.
Classification
Acute pharyngitis can be categorized based on its underlying cause:
6.1K