Whole Exome Sequencing of a Patient with a Milder Phenotype of Xeroderma Pigmentosum Group C.

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 gene (rs121965088: c.1735C > T, p.Arg579Ter).

Serum 25-Hydroxy Vitamin D Levels and Association of Vitamin D Receptor Gene Polymorphisms in Vitiligo.

Background: The role of vitamin D deficiency and vitamin D receptor (VDR) gene polymorphisms has been established in many autoimmune diseases, including vitiligo, but the result is still controversial.

Objectives: The aim of this study was to investigate the serum vitamin D levels in vitiligo patients and to compare the association of VDR gene polymorphisms in vitiligo patients and healthy controls.

Methods: We collected the data of age, sex, serum 25-hydroxy vitamin D (25[OH]D) level, thyroid autoantibodies, disease duration, types of vitiligo, family history and the affected body surface area of vitiligo from 172 patients.

Association between exonic polymorphisms of human leukocyte antigen-G gene and non-segmental vitiligo in the Korean population.

Background Vitiligo is a pigmentary skin disorder characterised by a chronic and progressive loss of melanocytes. Although several theories have been suggested to the pathogenesis of vitiligo, an autoimmune process leading to melanocyte destruction appears most likely. Human leukocyte antigen-G is a non-classic, major histocompatibility complex Class I molecule that plays an important role in the suppression of the immune response.

Eccrine Poroma Arising within Nevus Sebaceous.

Secondary neoplasms in nevus sebaceous can develop during adolescence and adulthood. Trichoblastoma and syringocystadenoma papilliferum are the most common benign neoplasms, but poroma is rarely reported. A 28-year-old female presented with an asymptomatic mass on the scalp.

The long-term risk of lymphoma and skin cancer did not increase after topical calcineurin inhibitor use and phototherapy in a cohort of 25,694 patients with vitiligo.

Background: Topical calcineurin inhibitors have been used to treat vitiligo, either alone or in combination with phototherapy; however, the long-term safety of these agents remains controversial.

Objective: To investigate the risk of lymphoma and skin cancer in vitiligo patients who received topical calcineurin inhibitors or phototherapy.

Methods: A multicenter retrospective cohort study of 25,694 vitiligo patients who received topical calcineurin inhibitors or phototherapy for 6 weeks or more between 2001 and 2019 was performed.

Association of GZMB polymorphisms and susceptibility to non-segmental vitiligo in a Korean population.

Non-segmental vitiligo (NSV) is the most common type of vitiligo, which is characterized by chronic and progressive loss of melanocytes. Genetic factors have been shown to play a key role in NSV in association and family studies. Granzyme B is a serine protease found in the cytoplasmic granules of cytotoxic T lymphocytes and natural killer cells that play an important role in inducing apoptotic changes of target cells.

Development of evidence-based consensus on critical issues in the management of patients with vitiligo: A modified Delphi study.

Background/purpose: Vitiligo remains a major challenge in dermatology. However, much of the treatment remains unclear, because little evidence is available. We sought to answer some critical questions pertaining to management of vitiligo patients.

Atypical maculopapular cutaneous mastocytosis showing a nevus spilus-like lesion.

A 13-year-old Korean girl presented with a 7-year history of a pruritic, light-brown patch containing multiple 0.2- to 0.5-cm brownish-to-reddish maculopapules on the left anterior chest.

Atopic labial pigmentation: a new diagnostic feature in Asian patients with atopic dermatitis.

Background: Pigmented lesions on the lips can be caused by physiological or pathological factors, along with exogenous or endogenous factors. Many patients with atopic dermatitis (AD) and labial pigmentation are seen in clinical practice. The aim of our study was to further explore the association of labial pigmentation and AD.

Heat shock protein 90 inhibitor enhances apoptosis by inhibiting the AKT pathway in thermal-stimulated SK-MEL-2 human melanoma cell line.

Background: Heat shock proteins (Hsps) are chaperone proteins, which are upregulated after various stresses. Hsp90 inhibitors have been investigated as adjuvant therapies for the treatment of melanoma. Thermal ablation could be a treatment option for surgically unresectable melanoma or congenital nevomelanocytic nevi, however, there is a limitation such as the possibility of recurrence.

A randomised comparative study of 1064 nm Neodymium-doped yttrium aluminium garnet (Nd:YAG) laser and topical antifungal treatment of onychomycosis.

Conventional treatments for onychomycosis include oral and topical antifungal agents. Although Nd:YAG laser has been reported to be effective, controlled studies combined or compared with conventional treatments are needed. To evaluate the efficacy of 1064 nm Nd:YAG laser for onychomycosis and compare outcomes with those of topical antifungal treatment and combination therapy.

Activin suppresses LPS-induced Toll-like receptor, cytokine and inducible nitric oxide synthase expression in normal human melanocytes by inhibiting NF-κB and MAPK pathway activation.

Activins are dimeric growth and differentiation factors that belong to the transforming growth factor (TGF)-β superfamily of structurally related signaling proteins. In the present study, we examined the mechanisms through which activin regulates the lipopolysaccharide (LPS)-induced transcription of Toll-like receptors (TLRs), cytokines and inducible nitric oxide synthase (iNOS) in human melanocytes, as well as the involvement of nuclear factor (NF)-κB and mitogen-activated protein kinase (MAPK) signaling. Cell proliferation was analyzed by cell viability assay, mRNA expression was detected by RT-qPCR, and protein expression was measured by western blot analysis.

Analysis of clinical features and lifestyle in Korean senile gluteal dermatosis patients.

Background: Senile gluteal dermatosis (SGD) is characterized by hyperkeratotic lichenified skin lesions on the superior part and both sides of the anal cleft. These lesions are particularly prevalent in sedentary and elderly patients.

Objectives: The purpose of this study was to investigate the prevalence, clinical manifestations, and other clinical characteristics of SGD in elderly Korean individuals.

Prevalence of vitiligo and associated comorbidities in Korea.

Purpose: Vitiligo prevalence and its associated comorbidities rate have been reported variably among different populations. We aimed to determine the prevalence of vitiligo in Korea along with the baseline rate of comorbidities and compared the risks to the general population using hospital visit information of the total population in Korea.

Materials And Methods: We assessed demographic characteristics of vitiligo patients in Korean population from 2009 to 2011 in a nationwide data from Health Insurance Review Assessment Service.