1.Association of MICA gene polymorphisms and SNP loci with susceptibility to rosacea.
Xiangli YIN ; Quan ZHU ; Ji LI ; Yizhou ZOU ; Qizhi LUO
Journal of Central South University(Medical Sciences) 2025;50(3):319-330
OBJECTIVES:
The major histocompatibility complex class I chain-related gene A (MICA), a component of the human leukocyte antigen (HLA) gene complex, is involved in the pathogenesis of various diseases including cancers and autoimmune disorders. Rosacea, a chronic inflammatory skin disease with a complex pathogenesis, potentially influenced by genetic and autoimmune factors. This study aims to investigate the relationship among MICA gene polymorphisms, single nucleotide polymorphisms (SNPs), and susceptibility to rosacea, thereby offering new insights into the disease mechanism.
METHODS:
Peripheral blood DNA samples were collected from 84 patients with rosacea (rosacea group) and 223 healthy volunteers (control group) who visited the Dermatology Outpatient Department of Xiangya Hospital of Central South University between November 2017 and November 2019. MICA genotyping was performed using polymerase chain reaction-sequencing-based typing (PCR-SBT) and the next-generation sequencing (NGS), and the accuracy of the 2 methods was compared. The frequency distributions of MICA alleles between the 2 groups were analyzed. Amino acid clustering and SNP site analyses were conducted to identify haplotype-linked SNPs and to classify MICA polymorphic variants. Distribution differences of these classifications between groups were also examined.
RESULTS:
Blood tests in rosacea patients showed mildly elevated, with no significant changes in lymphocyte counts. Both PCR-SBT and NGS accurately identified MICA alleles. The most common alleles in the rosacea group were MICA*010:01, MICA*008:04, and MICA*019:01. The frequencies of MICA*002:01 and MICA*027 were significantly lower in the rosacea group compared to controls (6.55% vs 18.16% and 1.19% vs 5.38%, respectively), while and MICA*010:01 were significantly higher (7.74% vs 3.36% and 31.55% vs 18.61%, respectively; all P<0.05). Five short tandem repeat (STR) alleles were identified. Frequencies of MICA-A4 and MICA-A9 were lower in the rosacea group than in the control group (16.07% vs 23.32% and 7.74% vs 17.26%, respectively), whereas MICA-A6 was higher (10.12% vs 4.03%; all P<0.05). Clustering and SNP analysis identified 6 linked SNP sites, classifying MICA variants into Type I (C36+M129+K173+G206+W210+S215) and Type II (Y36+V129+E173+S206+R210+T215). Type I MICA variants were significantly associated with rosacea susceptibility.
CONCLUSIONS
MICA gene polymorphisms are associated with susceptibility to rosacea, and there are 6 linked SNP sites within the MICA gene. Based on this, MICA polymorphic variants are classified into Type I and Type II, with Type I being more closely associated with disease development of rosacea.
Humans
;
Polymorphism, Single Nucleotide
;
Histocompatibility Antigens Class I/genetics*
;
Rosacea/genetics*
;
Genetic Predisposition to Disease/genetics*
;
Female
;
Male
;
Adult
;
Middle Aged
;
Genotype
;
Alleles
;
Gene Frequency
;
Haplotypes
;
Case-Control Studies
;
Aged
;
High-Throughput Nucleotide Sequencing
2.Research progress in the role of ultraviolet in the pathogenesis of rosacea.
Yuming XIE ; Yue HU ; Junke HUANG ; Juan LIU ; Qing ZHANG
Journal of Central South University(Medical Sciences) 2025;50(3):396-401
Rosacea is a common chronic inflammatory skin disease that predominantly affects the central face. It can impair appearance and cause various discomforts, thus negatively impacting patients' physical and mental well-being as well as their quality of life. Its pathophysiological mechanisms involve multiple factors. Studies have confirmed that ultraviolet radiation plays a significant role in the pathogenesis of rosacea, affecting skin tissues, cells, DNA, and proteins, and inducing oxidative damage. Ultraviolet can lead to the occurrence and development of rosacea by up-regulating the expression of LL-37, matrix metalloproteinase, vascular endothelial growth factor, and reactive oxygen species, and influence their interactions, thereby triggering inflammatory responses, altering the dermal matrix, and promoting capillary dilation and neovascularization, which contribute to the onset and progression of rosacea. Exploring the role of ultraviolet in the pathogenesis of rosacea can provide new strategies for protection and treatment, and enhance awareness of ultraviolet protection among patients with rosacea.
Humans
;
Rosacea/metabolism*
;
Ultraviolet Rays/adverse effects*
;
Cathelicidins
;
Reactive Oxygen Species/metabolism*
;
Antimicrobial Cationic Peptides/metabolism*
;
Matrix Metalloproteinases/metabolism*
;
Vascular Endothelial Growth Factor A/metabolism*
;
Skin/metabolism*
3.Unilateral rosacea in a 42-year-old male patient: A case report
Allen Khadir O. Uy ; Maria Mercedes S. Cauilan
Journal of the Philippine Dermatological Society 2024;33(Suppl 1):1-1
Unilateral rosacea is a rare type of rosacea that affects only one side of the face. Limited literature exists on this condition which resembles classic rosacea with persistent erythema, papules, or pustules but shows an unusual asymmetric pattern. The cause is unclear though localized triggers or vascular differences may be involved, complicating diagnosis due to similarities with other conditions.
This is a case of a 42-year-old male who presented with a 4-year history of few ill-defined erythematous patches topped with yellowish papules on the right side of his face and neck. On initial consult, he was noted to have a history of prolonged esun exposure. A skin punch biopsy was done and revealed basal layer hyperpigmentation, pigment incontinence and lymphohistiocytic cell aggregates in the dermis, consistent with granulomatous dermatitis. There was no Demodex infestation. Based on clinical and histopathological data, the diagnosis was unilateral rosacea. Treatment in this case included topical Azelaic Acid cream and frequent sunscreen application along with physical photoprotection, avoidance of unnecessary and prolonged sun exposure.
First reported in 1989 by Shelley et al., unilateral rosacea is underreported, making it challenging to estimate its prevalence. It affects middle-aged adults and can be confused with other unilateral skin conditions. However, no specific data or large-scale studies have been dedicated solely to unilateral cases and it may be mistaken for other unilateral skin conditions making the diagnosis challenging. Treatment generally follows the rosacea protocols like topical therapies, oral medications and lifestyle modification.
Human ; Male ; Adult: 25-44 Yrs Old ; Rosacea
4.A case of a concomitant rhinophyma and basal cell carcinoma on the nose in a 76-year-old British male
Tetsuya Jumi B. Makino ; Charlene Marie U. Ang-Tiu
Journal of the Philippine Dermatological Society 2024;33(Suppl 1):25-25
Rosacea is a common, chronic condition seen most frequently in lightly pigmented skin presenting with centrofacial redness, papules, pustules, flushing, telangiectasia, and phymatous skin changes. Phymatous rosacea on the nose is called rhinophyma. This condition predominantly affects males in their 5th-7th decade of life. Rosacea has a complex pathophysiology involving the innate and adaptive immune system and its interaction with environmental stimuli. Correlation of non-melanoma skin cancer and rosacea is documented albeit uncommon, and none published from the Philippines.
This is a case of a 76-Year Old British male who presents with a 3 year history of skin colored mass on the nose, which was excised with paramedian forehead flap and was diagnosed with squamous cell carcinoma. In the interim, the patient noted the appearance of rubbery erythematous plaque on the nose with progressively increasing size and erythema and ulceration. Skin punch biopsies were done revealing both infiltrative basal cell carcinoma and rhinophyma. Patient was eventually seen by general surgery and underwent a wide excision.
This case highlights the importance of having a high index of suspicion for malignancies in the appropriate population. The different findings of biopsy sites also reminds us of choosing the appropriate biopsy sites for accurate and timely diagnosis. Lastly, a multidisciplinary approach for successful and comprehensive treatment is of paramount importance.
Human ; Male ; Aged: 65-79 Yrs Old ; Carcinoma, Basal Cell ; Rhinophyma ; Rosacea
5.Evaluation of skin barrier function based on skin dermoscopic features in patients with rosacea.
Yixuan LIU ; Peiyu JIANG ; Yunyi LIU ; Jin LIU ; Min LI ; Meng TAO ; Yue ZHANG ; Ruoxin PAN ; Yang XU
Chinese Medical Journal 2023;136(15):1885-1887
6.Severe Papulopustular Rosacea with Demodicosis in a 47-year-old Filipino female: A case report
Aira Monica R. Abella ; Johannes F. Dayrit
Journal of the Philippine Dermatological Society 2021;30(2):65-68
Introduction:
Rosacea is a chronic relapsing inflammatory facial dermatosis often characterized by flare-ups and remissions
exclusively affecting the centrofacial skin.
Case report:
This is a case of multiple symmetric intensely erythematous papules, pustules, and plaques over both cheeks in
a 47-year-old Filipino female. Dermoscopy showed brown-yellowish structureless areas, straight vessels in a polygonal pattern,
dilated follicles, follicular plugs, ill-defined white rosettes, and non-specific scales. Skin punch biopsy showed spongiosis of
the epidermis and demodex folliculorum within the follicular infundibulum. The dermis revealed telangiectasia of blood vessels
and dense inflammatory infiltrates. Hypertrophy of sebaceous lobules was also seen. The patient was initially treated with oral
lymecycline 300mg twice a day for 2 weeks without improvement. Due to the persistence of centrofacial erythema, papules and
pustules, the patient was given prednisone 10mg once a day for 1 month and low dose isotretinoin 10mg once a day for 8 months
which resulted in significant decrease in erythema and number of existing lesions. To further decrease the inflammation con-
tributed by demodex mites, permethrin 5% cream twice a day for 1 month was applied. Long-pulsed Neodymium-doped yttrium
aluminum garnet (Nd:YAG) 1064 nm laser for a total of 10 sessions together with Isotretinoin 10 mg every other day effectively
maintained remission for 1 year and 5 months. Gentle skin care measures, sunscreen, metronidazole 0.75% cream once a day, and
desonide 0.05% cream twice a day for 1 week in cases of acute flares were maintained during the treatment course.
Conclusion
An armamentarium of topical and oral antibiotics, corticosteroids, isotretinoin and non-ablative long-pulsed
Nd:YAG 1064 nm laser showed significant improvement in the inflammatory papules, pustules, and centrofacial erythema of rosa-
cea and proves to be beneficial in the maintenance of its long-term remission.
Rosacea
;
Isotretinoin
;
Lymecycline
7.Rhinophyma on hemangioma: A diagnostic conundrum
Danica-Grace R. Tungol ; Miguel Remigio T. Maralit ; Johannes F. Dayrit ;
Journal of the Philippine Dermatological Society 2020;29(1):93-95
INTRODUCTION: Rhinophyma, aside from persistent centrofacial redness is a major diagnostic criteria for rosacea. Phyma may be mistaken for hypertrophy of tissue due to an underlying hemangioma.
CASE REPORT: A 35-year-old female presented with few erythematous papules on the face and nose 19 years prior to consult. Lesions evolved into multiple erythematous nodules on nose and was mistaken for tissue hypertrophy due to an adjacent congenital hemangioma. Her hemangioma was treated with pulsed dye laser 16 years prior with noted decrease in size and erythema. Recently she noticed enlargement of her nose with persistent redness.
She presented with multiple firm, thick irregularly shaped erythematous nodules with prominent pilosebaceous pores and telangiectasia on the nose. Skin punch biopsy was done which revealed hypertrophy and lysis of sebaceous lobules with a moderately dense inflammatory infiltrate of lymphocytes. Histopathological diagnosis was rhinophyma. Patient was treated with low dose isotretinoin (0.20 mkd) with marked flattening of lesions in just one month.
CONCLUSION: Distinguishing phyma from tissue hypertrophy caused by hemangioma poses as a diagnostic challenge. Careful dermatological examination and histopathological findings will aid in correct diagnosis. Low dose oral isotretinoin is an effective treatment for rhinophyma.
Rhinophyma
;
Isotretinoin
;
Rosacea
;
Hemangioma
;
Hydrozoa
8.A Rosacea Case Involving One Side of the Face Accompanied by Demodex Infestation: Unilateral Rosacea Fulminans
Annals of Dermatology 2019;31(1):115-116
No abstract available.
Rosacea
9.Acne rosacea-a pedigree with ten cases.
Rushan XIA ; Lei CAO ; Ling FANG ; Huizi XIONG ; Lijia YANG
Chinese Journal of Medical Genetics 2019;36(7):747-747
10.A Clinical Study Including Patch Test of Rosacea Patients
Kyoung Geun LEE ; Hyung Jin HAHN ; Ki Bum MYUNG ; Seung Hyun CHEONG
Korean Journal of Dermatology 2019;57(3):117-125
BACKGROUND: Rosacea is a relatively common inflammatory skin disease characterized by central facial erythema that persists for several months or longer. Experimental studies have demonstrated that rosacea compromises the epidermal barrier protection against allergens and irritants, rendering rosacea patients susceptible to contact hypersensitivity and skin irritation. OBJECTIVE: This study aimed to investigate allergic and irritant reactions to topical agents and cosmetics in rosacea patients using patch tests. METHODS: Rosacea signs and subtypes of 40 patients were recorded and subjective symptoms and clinical experiences related to topical agents and cosmetics were assessed using a questionnaire. Patch tests were performed in these patients using the Korean Standard Series (Chemotechnique Diagnostics, Sweden), the TRUE test® (Mekos Laboratories ApS, Denmark), and 26 selected fragrance and 31 cosmetic antigens (TROLAB, Germany). RESULTS: Of 40 patch-tested patients, 26 (65%) showed at least 1 positive reaction and 13 (32.5%) showed 2 or more positive reactions. The most common allergens were nickel (II) sulfate (50%), cobalt chloride (10%), epoxy resin (7.7%), and thimerosal (7.5%). Thirteen patients (32.5%) experienced irritant patch test reactions. There were no significant differences in allergic or irritant positive reactions between mild, moderate, and severe cases of rosacea or between rosacea subtypes. Irritant reactions were more common in fair-skinned participants. CONCLUSION: Different topical medications are used in the treatment of rosacea patients. Exacerbation of rosacea may be caused by a hypersensitivity reaction or irritation induced by the topical agent or by cosmetics.
Allergens
;
Clinical Study
;
Cobalt
;
Dermatitis, Contact
;
Erythema
;
Humans
;
Hypersensitivity
;
Irritants
;
Nickel
;
Patch Tests
;
Rosacea
;
Skin
;
Skin Diseases
;
Thimerosal


Result Analysis
Print
Save
E-mail