Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

3.5K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.5K
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

2.2K
The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
2.2K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

1.1K
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
1.1K
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

1.0K
Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...
1.0K
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies01:22

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

1.3K
The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...
1.3K
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

952
Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
952

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Proteomic and glycosylation biomarkers in rheumatoid arthritis: advancing early diagnosis and precision therapy.

Clinical proteomics·2026
Same author

Earthworms With Low Dose n-MoS<sub>2</sub> Improve Soybean Yield and Quality by Reconfiguring Rhizosphere Chemistry and Strengthening Nitrogen Fixation.

Physiologia plantarum·2026
Same author

Trait-based selection for excess moisture tolerance in chickpea: genetic and physiological insights.

Plant physiology and biochemistry : PPB·2026
Same author

Stability and Hopf bifurcation analysis of a fractional-order Filippov prey-predator model with prey refuge and fear effects.

Scientific reports·2026
Same author

Production of exopolysaccharides from Lactobacillus species and optimization of physiochemical parameters by response surface methodology.

Journal of microbiological methods·2026
Same author

Nacubactam: a review on mechanistic insights and therapeutic promise for combating β-lactam resistance among multidrug-resistant Gram-negative pathogens.

Annals of medicine and surgery (2012)·2026
Same journal

Efficacy of previous failure on subsequent procedural outcomes of chronic total occlusion percutaneous coronary intervention: A systematic review and meta-analysis.

Pakistan journal of medical sciences·2026
Same journal

Transforming Clinical Skills Training: Integrating OSCE into Team-Based Learning for teaching undergraduate medical students.

Pakistan journal of medical sciences·2026
Same journal

Vonoprazan in erosive esophagitis: Influence of gender and hiatus hernia on outcomes.

Pakistan journal of medical sciences·2026
Same journal

Integrating artificial intelligence and in-silico modeling to redefine therapeutic strategies for peritoneal seeding: A disulfiram repurposing concept.

Pakistan journal of medical sciences·2026
Same journal

Unraveling clinical and biological predictors of successful treatment free remission in Chronic Myeloid Leukemia and its impact on the healthcare system in a low- and middle-income country.

Pakistan journal of medical sciences·2026
Same journal

Ageism among postgraduate medical trainees: A mixed-method study from Karachi, Pakistan.

Pakistan journal of medical sciences·2026
See all related articles

Related Experiment Video

Updated: May 3, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
10:27

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

Published on: December 15, 2011

23.9K

Lamellar ichthyosis with rickets.

Raafia Ali1, Shahbaz Aman2, Muhammad Nadeem3

  • 1Raafia Ali, Department of Dermatology, King Edward Medical University/ Mayo Hospital, Lahore, Pakistan.

Pakistan Journal of Medical Sciences
|December 20, 2013
PubMed
Summary
This summary is machine-generated.

Lamellar ichthyosis, a rare genetic skin disorder, can co-occur with rickets, a bone condition caused by vitamin D deficiency. This case highlights the importance of recognizing this association in affected individuals.

Keywords:
Lamellar ichthyosisRicketsVitamin D deficiency

More Related Videos

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats
07:36

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

Published on: November 20, 2015

10.5K
Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
06:23

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence

Published on: January 17, 2025

1.2K

Related Experiment Videos

Last Updated: May 3, 2026

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis
10:27

Recognition of Epidermal Transglutaminase by IgA and Tissue Transglutaminase 2 Antibodies in a Rare Case of Rhesus Dermatitis

Published on: December 15, 2011

23.9K
Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats
07:36

Modeling Encephalopathy of Prematurity Using Prenatal Hypoxia-ischemia with Intra-amniotic Lipopolysaccharide in Rats

Published on: November 20, 2015

10.5K
Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence
06:23

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence

Published on: January 17, 2025

1.2K

Area of Science:

  • Dermatology
  • Pediatrics
  • Genetics

Background:

  • Lamellar ichthyosis (LI) is a rare, autosomal recessive genetic skin disorder presenting at birth, often as a collodion baby with generalized scaling.
  • Rickets is a bone disease caused by vitamin D or calcium deficiency, primarily affecting rapidly growing bones in children aged 6-24 months.
  • The association between ichthyosis subtypes and rickets is recognized, necessitating awareness of potential comorbidities.

Observation:

  • This report details a rare case of lamellar ichthyosis presenting with rickets in a 14-year-old female patient.
  • The patient exhibited typical lamellar ichthyosis characteristics, including generalized scaling accentuated in specific areas.
  • The co-occurrence of these conditions in an older child underscores the chronic nature and potential complications.

Findings:

  • The case confirms the documented association between lamellar ichthyosis and rickets.
  • It highlights that rickets can manifest or persist into adolescence in individuals with severe ichthyosis.
  • This presentation emphasizes the need for comprehensive metabolic evaluation in patients with ichthyosis.

Implications:

  • Early diagnosis and management of both lamellar ichthyosis and rickets are crucial for preventing long-term skeletal deformities and improving patient outcomes.
  • Healthcare providers should consider screening for vitamin D and calcium deficiencies in all patients diagnosed with ichthyosis.
  • Further research into the pathomechanisms linking these conditions may reveal novel therapeutic targets.