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Medicina
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Management of Patients with Rare Skin Diseases: Physiology, Pathogenesis and...
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Management of Patients with Rare Skin Diseases: Physiology, Pathogenesis and Treatment

A special issue of Medicina (ISSN 1648-9144). This special issue belongs to the section "Dermatology".

Deadline for manuscript submissions: closed (31 July 2023) | Viewed by 3613

Special Issue Editor

Prof. Dr. Su Kang Kim

E-Mail Website
Guest Editor
Department of Biomedical Laboratory Science, Catholic Kwandong University, Gangneung, Korea
Interests: skin disease; polymorphisms; natural treatment; biomarkers; Big Data
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Although skin diseases are not serious, social and personal economic losses due to skin diseases are considerable. Many studies are being conducted to find the cause of skin diseases, including atopic dermatitis, psoriasis, and vitiligo, and to find a treatment method for them. Extensive research is being conducted on common skin diseases, as well as rare skin diseases. As medical research technologies, including omics and next-generation sequencing, are used in many research fields, research should be carried out in rare skin diseases as well. Through this, strategies and treatment methods for skin diseases can be found. This Special Issue aims to discuss the causes, treatment strategies, alternative treatment methods, and biomarkers for rare skin diseases.

Prof. Dr. Su Kang Kim
Guest Editor

Manuscript Submission Information

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2200 CHF (Swiss Francs). 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

  • skin disease
  • polymorphisms
  • natural treatment
  • biomarkers
  • Big Data

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Published Papers (2 papers)

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6 pages, 2250 KiB  
Case Report
Disseminated Herpes Zoster Following Protein Subunit and mRNA COVID-19 Vaccination in Immunocompetent Patients: Report of Two Cases and Literature Review
by Chia-Shuen Lin and Chung-Hsing Chang
Medicina 2023, 59(9), 1542; https://doi.org/10.3390/medicina59091542 - 25 Aug 2023
Cited by 1 | Viewed by 1759
Abstract
Disseminated herpes zoster (DHZ), resulting from the reactivation of the varicella-zoster virus (VZV), typically occurs in immunocompromised persons. To date, only four cases of DHZ following mRNA, viral vector, or inactivated COVID-19 vaccinations have been reported in immunocompetent patients. Herein, we present the [...] Read more.
Disseminated herpes zoster (DHZ), resulting from the reactivation of the varicella-zoster virus (VZV), typically occurs in immunocompromised persons. To date, only four cases of DHZ following mRNA, viral vector, or inactivated COVID-19 vaccinations have been reported in immunocompetent patients. Herein, we present the first case of DHZ following the protein subunit COVID-19 vaccination (case 1, 64 years old) and a case of DHZ following mRNA COVID-19 vaccination (case 2, 67 years old) in elderly, immunocompetent male patients. Both cases were generally healthy, without a remarkable underlying disease and without a history of immunosuppressant use. Case 1 developed DHZ (left C3–5 predominant) 1 month after receiving the third dose of the SARS-CoV-2 spike protein vaccine (MVC-COV1901). Case 2 developed DHZ (right V1–3 predominant) 7 days after receiving the second dose of the mRNA-1273 SARS-CoV-2 vaccine. Through skin examination, Tzanck smears, and dermoscopy, the diagnosis of COVID-19 vaccination-related DHZ was established in both cases. Oral famciclovir (250 mg, three times/day for 7 days) was administered, and both cases achieved total remission of skin lesions without visceral involvement or severe post-herpetic neuralgia. Our cases demonstrate that DHZ, as a rare cutaneous adverse event in immunocompetent patients, can be secondary not only to mRNA COVID-19 vaccination but also to the protein subunit COVID-19 vaccination. It is speculated that the spike protein of SARS-CoV-2 could be the common trigger for the reactivation of VZV among different types of vaccinations. Full article
(This article belongs to the Special Issue Management of Patients with Rare Skin Diseases: Physiology, Pathogenesis and Treatment)
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8 pages, 578 KiB  
Case Report
Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C
by Ji-In Seo, Chikako Nishigori, Jung Jin Ahn, Jae Young Ryu, Junglok Lee, Mu-Hyoung Lee, Su Kang Kim and Ki-Heon Jeong
Medicina 2023, 59(4), 699; https://doi.org/10.3390/medicina59040699 - 3 Apr 2023
Viewed by 1463
Abstract
A 17-year-old female Korean patient (XP115KO) was previously diagnosed with Xeroderma pigmentosum group C (XPC) by Direct Sanger sequencing, which revealed a homozygous nonsense mutation in the XPC gene (rs121965088: c.1735C > T, p.Arg579Ter). While rs121965088 is associated with a poor prognosis, our [...] Read more.
A 17-year-old female Korean patient (XP115KO) was previously diagnosed with Xeroderma pigmentosum group C (XPC) by Direct Sanger sequencing, which revealed a homozygous nonsense mutation in the XPC gene (rs121965088: c.1735C > T, p.Arg579Ter). While rs121965088 is associated with a poor prognosis, our patient presented with a milder phenotype. Hence, we conducted whole-exome sequencing in the patient and her family members to detect coexisting mutations that may have resulted in a milder phenotype of rs121965088 through genetic interaction. Materials and Methods: the whole-exome sequencing analysis of samples obtained from the patient and her family members (father, mother, and brother) was performed. To identify the underlying genetic cause of XPC, the extracted DNA was analyzed using Agilent’s SureSelect XT Human All Exon v5. The functional effects of the resultant variants were predicted using the SNPinfo web server, and structural changes in the XPC protein using the 3D protein modeling program SWISS-MODEL. Results: Eight biallelic variants, homozygous in the patient and heterozygous in her parents, were detected. Four were found in the XPC gene: one nonsense variant (rs121965088: c.1735C > T, p.Arg579Ter) and three silent variants (rs2227998: c.2061G > A, p. Arg687Arg; rs2279017: c.2251-6A > C, intron; rs2607775: c.-27G > C, 5′UTR). The remaining four variants were found in non-XP genes, including one frameshift variant [rs72452004 of olfactory receptor family 2 subfamily T member 35 (OR2T35)], three missense variants [rs202089462 of ALF transcription elongation factor 3 (AFF3), rs138027161 of TCR gamma alternate reading frame protein (TARP), and rs3750575 of annexin A7 (ANXA7)]. Conclusions: potential candidates for genetic interactions with rs121965088 were found. The rs2279017 and rs2607775 of XPC involved mutations in the intron region, which affected RNA splicing and protein translation. The genetic variants of AFF3, TARP, and ANXA7 are all frameshift or missense mutations, inevitably disturbing the translation and function of the resultant proteins. Further research on their functions in DNA repair pathways may reveal undiscovered cellular relationships within xeroderma pigmentosum. Full article
(This article belongs to the Special Issue Management of Patients with Rare Skin Diseases: Physiology, Pathogenesis and Treatment)
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