Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
Abstract
:1. Introduction
2. Several Aspects of Epidermal Keratinocyte Growth, Proliferation, and Response to Inflammatory Stimuli under Normal Healthy Conditions
3. Epidemiology
4. Brief Phenotypic and Genotypic Characteristics
4.1. The Basic Pathology of Most EBS Subtypes
4.2. List of Genes Involved in EBS and EBS Subtypes
4.3. EBS Subtypes
- Localized EBS is characterized by skin blistering that develops any time between childhood and adulthood and is usually limited to the hands and feet. Later in life, the hand palms, and feet skin may thicken and harden (hyperkeratosis).
- Intermediate EBS is associated with widespread blistering that can be present from birth or develop in early infancy. The blistering tends to be more severe than that in localized EBS but milder than that in severe EBS.
- Severe EBS is the most severe type of EB simplex, in which extensive blistering can occur anywhere on the body, including the inside of the mouth cavity. Blistering tends to be present from birth and may improve with age, but older individuals can also be affected by hyperkeratosis. The severity and extent of the blistering vary greatly, and it can be fatal in infancy in very severe cases.
- EBS with mottled pigmentation is the fourth type of EB simplex, in which skin fragility is present at birth and, over time, brown pigmentation interspersed with spots develops on the body. The pigmentation can reduce and disappear in adult life.
- Severe EBS with pyloric atresia (EBS-PA);
- Muscular dystrophy EBS with PLEC deficiency (EBS-MD);
- EBS with migratory circinate erythema (EBS-MCE);
- Intermediate EBS with cardiomyopathy (EBS-CM);
- EBS with nephrotic syndrome due to CD151 mutations.
4.4. Mutations as the Causes of Pathology
5. K5/K14 Heterohybrid Structure and Function
6. Turnover of Keratins in Healthy and EBS Cell Conditions
6.1. Dynamics of the Keratins
6.2. Posttranslational Modifications (PTMs) of Keratins
6.3. Phosphorylation-Dependent Aggregation in EBS Cells
7. Stress-Mediated Cellular Responses
7.1. Mechanical Properties of EBS Mutated Keratins
7.2. ER Stress and the Ubiquitin–Proteasome System of Degradation
7.3. ER Stress and UPR in Inflammatory Cascades in EBS
8. Molecular Pathways Orchestrated in the EBS-Specific Profile
9. Inflammation Initiation and Progression
9.1. Sterile Inflammation (SI)
9.2. Chemokines
9.3. Immune Cells
10. Disease Modeling
11. Abnormal Cellular Structures and Function
12. Microbial Infections
13. WH and Carcinogenesis in EBS
14. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
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Evtushenko, N.A.; Beilin, A.K.; Kosykh, A.V.; Vorotelyak, E.A.; Gurskaya, N.G. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex. Int. J. Mol. Sci. 2021, 22, 12446. https://doi.org/10.3390/ijms222212446
Evtushenko NA, Beilin AK, Kosykh AV, Vorotelyak EA, Gurskaya NG. Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex. International Journal of Molecular Sciences. 2021; 22(22):12446. https://doi.org/10.3390/ijms222212446
Chicago/Turabian StyleEvtushenko, Nadezhda A., Arkadii K. Beilin, Anastasiya V. Kosykh, Ekaterina A. Vorotelyak, and Nadya G. Gurskaya. 2021. "Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex" International Journal of Molecular Sciences 22, no. 22: 12446. https://doi.org/10.3390/ijms222212446