Related Experiment Video

Updated: Dec 22, 2025

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy
07:45

An In Vitro Model for the Study of Cellular Pathophysiology in Globoid Cell Leukodystrophy

Published on: October 21, 2014

8.3K

Clinical, etiopathogenic, and therapeutic aspects of KID syndrome

Francisco Cammarata-Scalisi1, Colin Eric Willoughby2, Antonio Cárdenas Tadich1

  • 1Pediatrics Service, Regional Hospital of Antofagasta, Antofagasta, Chile.

Dermatologic Therapy
|May 6, 2020
PubMed

Insights

Keratitis-ichthyosis-deafness (KID syndrome) is a rare genetic disorder. Early, long-term multidisciplinary care is crucial for managing its complex clinical and genetic aspects.

Area of Science:

  • Dermatology
  • Genetics
  • Ophthalmology
  • Otolaryngology

Background:

  • Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital ectodermal disorder.
  • It is characterized by clinical and genetic heterogeneity.
  • Affected individuals require lifelong multidisciplinary management.

Purpose of the Study:

  • To present a comprehensive review of KID syndrome.
  • To cover clinical, etiopathogenic, and therapeutic aspects.
  • To emphasize the need for early and continuous monitoring.

Main Methods:

  • Literature review of clinical studies and case reports.
  • Analysis of genetic and etiological factors.
  • Synthesis of current therapeutic strategies.

Main Results:

  • KID syndrome presents with a variable spectrum of ichthyosis, keratitis, and sensorineural deafness.
  • Genetic heterogeneity contributes to diverse clinical manifestations.
  • Multidisciplinary care is essential for managing complications and improving outcomes.

Conclusions:

  • KID syndrome necessitates a coordinated approach involving various medical specialties.
  • Understanding the etiopathogenesis aids in developing targeted therapies.
  • Long-term monitoring is vital for addressing the progressive nature of the disorder.

Keywords:
KID syndromeclinicaletiopathogenicsyndromes ichthyosestherapeutic

More Related Videos

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring07:35

Use of Ultra-high Field MRI in Small Rodent Models of Polycystic Kidney Disease for In Vivo Phenotyping and Drug Monitoring

Published on: June 23, 2015

11.8K
Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium08:46

Implementing Patch Clamp and Live Fluorescence Microscopy to Monitor Functional Properties of Freshly Isolated PKD Epithelium

Published on: September 1, 2015

10.1K

Related Concept Videos

Chronic Kidney Disease II: Clinical Manifestations01:24

Chronic Kidney Disease II: Clinical Manifestations

Chronic Kidney Disease (CKD) progressively impairs multiple body systems due to the accumulation of uremic toxins, which disrupt cellular functions across various organs.Neurologic symptomsNeurologic symptoms often arise early in CKD, as uremic toxin buildup drives changes in cognitive and motor functions. Patients frequently experience fatigue, headache, confusion, difficulty concentrating, and, in severe cases, seizures. Peripheral neuropathy commonly manifests as burning sensations in the...
460
Chronic Kidney Disease I: Introduction01:25

Chronic Kidney Disease I: Introduction

Chronic Kidney Disease (CKD) arises when the kidneys progressively lose their ability to function, ultimately leading to end-stage renal disease. At this advanced stage, the kidneys can no longer filter waste or maintain essential body functions, requiring renal replacement therapy (RRT) through dialysis or a kidney transplant for survival.Early-stage chronic kidney disease and detection challengesIn CKD's early stages, symptoms often remain absent because healthy nephrons compensate for...
472
Pharmacokinetics in Pediatric Patients: Drug Metabolism01:24

Pharmacokinetics in Pediatric Patients: Drug Metabolism

In pediatric care, understanding the nuances of hepatic drug metabolism is crucial, as it significantly differs from that of adults. This divergence is primarily due to the developmental stage of drug-metabolizing enzymes, which affects how medications are processed in the body. In neonates, for instance, the activity of Phase I enzymes—critical for the initial breakdown of drugs—is markedly reduced, functioning at just 20–40% of the levels seen in adults. This reduction poses...
130
Cystic Fibrosis: Pathogenesis01:23

Cystic Fibrosis: Pathogenesis

Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
CF is primarily caused by a genetic mutation in a chromosome 7 gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The most common gene mutation leading to CF is the ΔF508 mutation,...
644
Chronic Kidney Disease III: Interprofessional Care01:28

Chronic Kidney Disease III: Interprofessional Care

Chronic kidney disease (CKD) requires collaborative and comprehensive management. CKD progresses through stages and can lead to end-stage kidney disease (ESKD) if untreated. Interprofessional collaboration and patient education are crucial, enabling patients to manage their health and improve their quality of life.Diagnostic approach for chronic kidney diseaseThe diagnosis of CKD primarily focuses on the glomerular filtration rate (GFR), which assesses kidney function by measuring how well...
268
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

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,...
4.4K