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Molecular Basis and Treatment of Skin Diseases and Their Associated Complications (2nd Edition)

A special issue of International Journal of Molecular Sciences (ISSN 1422-0067). This special issue belongs to the section "Molecular Pathology, Diagnostics, and Therapeutics".

Deadline for manuscript submissions: 20 April 2026 | Viewed by 2829

Special Issue Editors

Dr. Maria Maisto

E-Mail Website
Guest Editor
Department of Pharmacy, University of Naples Federico II, Via Domenico Montesano 49, 80131 Naples, Italy
Interests: nutraceuticals; bioactive compounds; antioxidant activity; mass spectrometry; chromatography
Special Issues, Collections and Topics in MDPI journals
Dr. Vincenzo Piccolo

E-Mail Website
Guest Editor
Department of Pharmacy, University of Naples Federico II, Via Domenico Montesano 49, 80131 Naples, Italy
Interests: biomarkers; mass spectrometry; metabolomics; nutraceuticals; natural products; chromatography; cutaneous comorbidities complication
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue is supervised by Dr. Maria Maisto and assisted by our Topical Advisory Panel Member, Dr. Vincenzo Piccolo (University of Naples Federico II).

The objective of this Special Issue is to explore present-day approaches to addressing the root cause of skin diseases and their related complications. Given the wide range of genes associated with these conditions and the mutations responsible for the diseases, a diverse array of phenotypic severities and clinical outcomes can be observed. The severity of the disease and its corresponding subtype are determined by the specific affected gene, the type of mutation, and the method of inheritance. At present, treatment methods primarily focus on providing relief from symptoms, including wound care and blister prevention, as definitive treatments are still in the preclinical phase. Common skin diseases include genodermatoses, atopic dermatitis, and recessive dystrophic epidermolysis bullosa (RDEB).

This Special Issue will focus on the molecular basis of various skin diseases, aiming to shed light on the underlying mechanisms behind these conditions. By investigating the molecular aspects of these skin diseases and highlighting potential therapeutic approaches, we hope to contribute to a broader understanding and improved management of these conditions, benefiting both patients and medical professionals in the field of dermatology.

Dr. Maria Maisto
Dr. Vincenzo Piccolo
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as short communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. International Journal of Molecular Sciences is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. There is an Article Processing Charge (APC) for publication in this open access journal. For details about the APC please see here. Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • diagnosis
  • biomarkers
  • imaging
  • histopathology
  • cutaneous comorbidities complication
  • therapy
  • management
  • clinical Trials

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Published Papers (3 papers)

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Research

25 pages, 5060 KB  
Article
Evaluation of the Efficacy of Transglutaminase 1 Gene Delivery by Adeno-Associated Virus into Rat and Pig Skin and Safety of ARCI Gene Therapy
by Alexey Ponomarev, Ilnur Ganiev, Alexander Aimaletdinov, Milana Mansurova, Angelina Titova, Albert Rizvanov and Valeriya Solovyeva
Int. J. Mol. Sci. 2025, 26(20), 9976; https://doi.org/10.3390/ijms26209976 - 14 Oct 2025
Viewed by 349
Abstract
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of inherited keratinization disorders with diffuse skin lesions. It includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and fetal ichthyosis. The common pathognomonic feature is generalized neonatal erythroderma. Lamellar ichthyosis is caused by mutations in the [...] Read more.
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of inherited keratinization disorders with diffuse skin lesions. It includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and fetal ichthyosis. The common pathognomonic feature is generalized neonatal erythroderma. Lamellar ichthyosis is caused by mutations in the TGM1 gene encoding transglutaminase 1 (TGM1), leading to a functional deficiency of the enzyme in the epidermis. TGM1 deficiency causes severe keratinization defects and skin barrier impairment (leading to metabolic disorders, growth delay, and bacterial infections), with severe cases risking potentially fatal sepsis. Current therapeutic approaches are only symptomatic. In this study, we analyzed the functionality and safety of an adeno-associated viral vector of serotype 2 encoding TGM1 (AAV2-TGM1) for gene therapy of lamellar ichthyosis. The functionality of AAV2-TGM1 was confirmed in vitro on HEK293, HaCaT, and SH-SY5Y cells and human primary fibroblasts. A significant increase in TGM1 mRNA, protein levels, and enzymatic activity was shown. The vector was characterized and applied in vivo in rats and pigs. Intradermal injection and topical application resulted in increased protein levels in the skin, as shown by PCR and immunofluorescence. Safety was confirmed by the absence of significant histological, biochemical, and cellular changes. The results demonstrate the promise of AAV2-TGM1 for dermal application in gene therapy of lamellar ichthyosis. Full article
(This article belongs to the Special Issue Molecular Basis and Treatment of Skin Diseases and Their Associated Complications (2nd Edition))
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14 pages, 2002 KB  
Article
Linking IFN-γ-Mediated Pathogenesis to ROCK-Targeted Therapy in a Scalable iPSCs-Based Vitiligo Model
by Toshiro Komatsu, Yupeng Dong, Takaharu Ikeda and Tamihiro Kawakami
Int. J. Mol. Sci. 2025, 26(16), 8069; https://doi.org/10.3390/ijms26168069 - 21 Aug 2025
Viewed by 1300
Abstract
Vitiligo is a chronic autoimmune dermatosis defined by selective melanocyte depletion and patchy depigmentation. IFN–γ-driven recruitment of autoreactive CD8+ T cells and induction of melanocyte apoptosis are central to its pathogenesis. Current therapies—including UVB phototherapy, tacrolimus, vitamin D3 analogs, and surgical methods—show [...] Read more.
Vitiligo is a chronic autoimmune dermatosis defined by selective melanocyte depletion and patchy depigmentation. IFN–γ-driven recruitment of autoreactive CD8+ T cells and induction of melanocyte apoptosis are central to its pathogenesis. Current therapies—including UVB phototherapy, tacrolimus, vitamin D3 analogs, and surgical methods—show limited and inconsistent efficacy. Emerging treatments like JAK inhibitors and WNT activators offer potential but require further validation. Translational progress is hindered by a lack of scalable human models. Here, we describe a tunable in vitro vitiligo platform in which human iPSC-derived melanocytes (iMc) are co-cultured with keratinocytes on Matrigel and exposed to precise graded IFN-γ concentrations. Our data revealed dose-dependent decreases in iMc survival and dendritic structure, faithfully mirroring derived melanocyte pathology. Leveraging this platform, we first evaluated the short-term efficacy of the ROCK inhibitor Y27632 under early-stage patient IFN-γ concentrations representative of patient lesional thresholds. At three days, Y27632 significantly upregulated adhesion molecules E-cadherin and DDR1, and two central factors—ET1 and bFGF. Importantly, ROCK inhibition reversed dendritic retraction and improved overall viability of iMc-keratinocytes. These findings position ROCK blockade as a promising adjunctive strategy and establish a pre-clinical platform for evaluating combination therapies for durable pigment restoration. Full article
(This article belongs to the Special Issue Molecular Basis and Treatment of Skin Diseases and Their Associated Complications (2nd Edition))
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30 pages, 3698 KB  
Article
Characteristics of Intestinal Barrier State and Immunoglobulin-Bound Fraction of Stool Microbiota in Advanced Melanoma Patients Undergoing Anti-PD-1 Therapy
by Bernadeta Drymel, Katarzyna Tomela, Łukasz Galus, Agnieszka Olejnik-Schmidt, Jacek Mackiewicz, Mariusz Kaczmarek, Andrzej Mackiewicz and Marcin Schmidt
Int. J. Mol. Sci. 2025, 26(16), 8063; https://doi.org/10.3390/ijms26168063 - 20 Aug 2025
Viewed by 844
Abstract
The gut microbiota is recognized as one of the extrinsic factors that modulate the clinical outcomes of immune checkpoint inhibitors (ICIs), such as inhibitors targeting programmed cell death protein 1 (PD-1), in cancer patients. However, the link between intestinal barrier, which mutually interacts [...] Read more.
The gut microbiota is recognized as one of the extrinsic factors that modulate the clinical outcomes of immune checkpoint inhibitors (ICIs), such as inhibitors targeting programmed cell death protein 1 (PD-1), in cancer patients. However, the link between intestinal barrier, which mutually interacts with the gut microbiota, and therapeutic effects has not been extensively studied so far. Therefore, the primary goal of this study was to investigate the relationship between intestinal barrier functionality and clinical outcomes of anti-PD-1 therapy in patients with advanced melanoma. Fecal samples were collected from 64 patients before and during anti-PD-1 therapy. The levels of zonulin, calprotectin, and secretory immunoglobulin A (SIgA), which reflect intestinal permeability, inflammation, and immunity, respectively, were measured in fecal samples (n = 115) using an Enzyme-Linked Immunosorbent Assay (ELISA). Moreover, the composition of the immunoglobulin (Ig)-bound (n = 108) and total stool microbiota (n = 117) was determined by the V3–V4 region of 16S rRNA gene sequencing. ELISA indicated a higher baseline concentration of fecal SIgA in patients with favorable clinical outcomes than those with unfavorable ones. Moreover, high baseline concentrations of intestinal barrier state biomarkers correlated with survival outcomes. In the cases of fecal zonulin and fecal SIgA, there was a positive correlation, while in the case of fecal calprotectin, there was a negative correlation. Furthermore, there were differences in the microbial profiles of the Ig-bound stool microbiota between patients with favorable and unfavorable clinical outcomes and their changes during treatment. Collectively, these findings indicate an association between intestinal barrier functionality and clinical outcomes of anti-PD-1 therapy in advanced melanoma patients. Full article
(This article belongs to the Special Issue Molecular Basis and Treatment of Skin Diseases and Their Associated Complications (2nd Edition))
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