Related Experiment Video
Updated: Nov 6, 2025

11:37
QTL Mapping and CRISPR/Cas9 Editing to Identify a Drug Resistance Gene in Toxoplasma gondii
Published on: June 22, 2017
16.5K
Genodermatoses in Las Tunas Province, Cuba, 1989-2019
Yordania Velázquez-Ávila1, Carmen R Valenciano-Rodríguez2
1Mártires de las Tunas Pediatric Provincial Hospital, Las Tunas, Cuba.
MEDICC Review
|May 11, 2021
Summary
Genodermatoses are not rare in Las Tunas, Cuba. A specialized care service improved diagnosis, reduced complications, and increased survival rates for these genetic skin conditions.
Area of Science:
- Dermatology
- Genetics
- Public Health
Background:
- Genodermatoses, genetic skin diseases, represent 15% of genetic disorders globally.
- Cuba's National Program (established 1980) and Las Tunas' specialized service (established 2010) aim to manage these conditions.
- Previous studies indicate genodermatoses comprise 22.2% of genetic diseases in Las Tunas, with ichthyosis, mastocytosis, and neurofibromatosis being most common.
Purpose of the Study:
- To describe genodermatoses in Las Tunas Province, Cuba.
- To analyze the impact of the National Program and specialized care service on genodermatoses management.
- To assess prevalence, incidence, complications, and survival rates from 1989-2019.
Main Methods:
- An observational, descriptive, retrospective study was conducted on 249 patients diagnosed with genodermatoses in Las Tunas (1989-2019).
- Data collected included genodermatosis type, complications, deaths, and geographic distribution.
- Prevalence, incidence, complication rates, and survival rates were analyzed across two periods: 1989-2009 (before specialized service) and 2010-2019 (after specialized service).
Main Results:
- The overall prevalence rate of genodermatoses was 46.51 per 100,000 population.
- Neurofibromatosis type 1, classical Ehlers-Danlos syndrome, and ichthyosis vulgaris showed the highest prevalence and incidence rates.
- Complications decreased from 40% (1989-2009) to 21.1% (2010-2019), with survival rates at 98.0%.
Conclusions:
- Genodermatoses are not rare in Las Tunas Province, with specific conditions like neurofibromatosis type 1 being highly prevalent.
- The specialized multidisciplinary service, integrated with the national program, led to increased diagnoses and improved patient outcomes.
- Enhanced screening and care resulted in a lower proportion of complications and higher survival rates for patients with genodermatoses.
Related Concept Videos
Mutations
41.6K
Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
41.6K
Mutations
88.7K
Overview
88.7K
Prevalence and Incidence
1.0K
In statistical epidemiology and health sciences, two essential metrics—prevalence and incidence—are fundamental for understanding disease dynamics within a population. These measures enable public health officials, epidemiologists, and researchers to assess the burden of diseases, allocate resources effectively, and design impactful public health policies and interventions.
Prevalence indicates the proportion of individuals in a population who have a specific disease or health...
Prevalence indicates the proportion of individuals in a population who have a specific disease or health...
1.0K
Tumor Progression
6.8K
Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...
6.8K
Cystic Fibrosis: Pathogenesis
511
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,...
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,...
511
Mutations in Microorganisms
223
Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
223

