1.Research progress of genetic research on POIKTMP syndrome.
Hui YANG ; Rong XIANG ; Liangliang FAN
Chinese Journal of Medical Genetics 2026;43(3):228-233
Hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis (POIKTMP) is a rare autosomal dominant genetic disorder. It may also involve many other organ systems, leading to complications such as exocrine pancreatic insufficiency, liver dysfunction, lymphedema, and developmental delay. The FAM111B has been determined as the pathogenic gene associated with POIKTMP syndrome, whose protein product plays a critical role in regulating essential cellular processes including DNA repair and replication, cell cycle progression, apoptosis, nuclear transport, and telomere length maintenance. This article has provided a comprehensive review for the genetic basis of POIKTMP syndrome and its correlation with various phenotypes, which may offer insights for basic research and clinical diagnosis of this disease.
Humans
;
Pulmonary Fibrosis/genetics*
;
Skin Diseases, Genetic/genetics*
2.Regulatory effects of moxibustion at "Guanyuan" (CV4) on extragonadal estrogen and estrogen receptors in ovariectomized rats.
Qingchen ZHOU ; Xinyan GAO ; Kun LIU ; Bing ZHU
Chinese Acupuncture & Moxibustion 2025;45(12):1770-1776
OBJECTIVE:
To observe the regulatory effects of moxibustion at "Guanyuan" (CV4) on the synthesis of extragonadal estradiol (E2) and the expression of estrogen receptor (ER) in ovariectomized rats, aiming to explore the mechanism of moxibustion treatment for perimenopausal syndrome.
METHODS:
Forty-eight SD female rats of SPF grade were randomly divided into a sham-operation group, a model group and a moxibustion group, with 16 rats in each group. The model group and the moxibustion group underwent bilateral ovariectomy by the back incision method. Ten days after surgery, moxibustion was applied at "Guanyuan" (CV4) in the moxibustion group, 30 min each time, once a day for 10 days. After intervention, in the 3 groups, the body mass and uterus weight were measured; the serum levels of follicle stimulating hormone (FSH), luteinizing hormone (LH) and E2, as well as the skin and hypothalamus levels of E2 were detected by ELISA; the mRNA expression of aromatase (P450arom) in the skin and hypothalamus was detected by real-time PCR; the expression of ERα and ERβ in the hypothalamus, skin, and uterus was observed by immunofluorescence staining, and the density of positive cells was calculated using the Aipathwell digital pathology image analysis software.
RESULTS:
Compared with the sham-operation group, the body mass was increased (P<0.01) and the uterus weight was decreased (P<0.001) in the model group. Compared with the model group, the body mass was decreased in the moxibustion group (P<0.01). Compared with the sham-operation group, in the model group, the serum, hypothalamus and skin levels of E2 were decreased (P<0.01, P<0.05), while the serum levels of FSH and LH were increased (P<0.01); the expression of ERα and ERβ in the skin, hypothalamus and uterus was decreased (P<0.05, P<0.001). Compared with the model group, in the moxibustion group, the serum levels of E2 and LH, as well as the hypothalamus and skin levels of E2 were increased (P<0.05, P<0.01); the mRNA expression of P450arom, as well as the expression of ERα and ERβ in the skin and hypothalamus were increased (P<0.05).
CONCLUSION
Moxibustion at "Guanyuan" (CV4) reduces the body mass of ovariectomized rats by enhancing the synthesis of extragonadal E2 and increasing the expression of ER in the skin and hypothalamus, yet it does not alleviate uterine atrophy.
Animals
;
Female
;
Moxibustion
;
Rats
;
Ovariectomy
;
Acupuncture Points
;
Rats, Sprague-Dawley
;
Humans
;
Receptors, Estrogen/genetics*
;
Estrogens/metabolism*
;
Estradiol/metabolism*
;
Hypothalamus/metabolism*
;
Follicle Stimulating Hormone/blood*
;
Aromatase/genetics*
;
Luteinizing Hormone/blood*
;
Skin/metabolism*
3.Tapping with plum-blossom needle combined with sulfur ointment and local irradiation for primary cutaneous amyloidosis: a case report.
Fasen DENG ; Xiao CHEN ; Weijuan ZHENG ; Ziyang HE ; Xinsheng CHEN
Chinese Acupuncture & Moxibustion 2025;45(12):1800-1802
The paper reports one case of primary cutaneous amyloidosis (PCA) treated by tapping with plum-blossom needle combined with sulfur ointment and local irradiation. PCA in this case was manifested as generalized erythema, papules, plaques, lichenification, and severe pruritus. In treatment, tapping with plum-blossom needle was delivered at typical lesions to induce local congestion, redness, and minimal bleeding. After cleaned with sterile gauze for 10 s, 25% sulfur ointment was evenly applied, followed by local irradiation with a TDP lamp for 15 min. This session was repeated twice a week. In 1 month of treatment, the lesions turned flat and the skin was soft as the normal, with pigmentation and mild pruritus left. In 3 months of follow-up, no papules recurred, and mild pruritus presented occasionally.
Humans
;
Ointments/administration & dosage*
;
Sulfur/administration & dosage*
;
Skin Diseases, Genetic/radiotherapy*
;
Middle Aged
;
Amyloidosis, Familial/radiotherapy*
;
Male
;
Acupuncture Therapy/instrumentation*
;
Female
;
Combined Modality Therapy
4.Systemic comparison of molecular characteristics in different skin fibroblast senescent models.
Xiaokai FANG ; Shan ZHANG ; Mingyang WU ; Yang LUO ; Xingyu CHEN ; Yuan ZHOU ; Yu ZHANG ; Xiaochun LIU ; Xu YAO
Chinese Medical Journal 2025;138(17):2180-2191
BACKGROUND:
Senescent human skin primary fibroblast (FB) models have been established for studying aging-related, proliferative, and inflammatory skin diseases. The aim of this study was to compare the transcriptome characteristics of human primary dermal FBs from children and the elderly with four senescence models.
METHODS:
Human skin primary FBs were obtained from healthy children (FB-C) and elderly donors (FB-E). Senescence models were generated by ultraviolet B irradiation (FB-UVB), D-galactose stimulation (FB-D-gal), atazanavir treatment (FB-ATV), and replication exhaustion induction (FB-P30). Flow cytometry, immunofluorescence staining, real-time quantitative polymerase chain reaction, co-culturing with immune cells, and bulk RNA sequencing were used for systematic comparisons of the models.
RESULTS:
In comparison with FB-C, FB-E showed elevated expression of senescence-related genes related to the skin barrier and extracellular matrix, proinflammatory factors, chemokines, oxidative stress, and complement factors. In comparison with FB-E, FB-UVB and FB-ATV showed higher levels of senescence and expression of the genes related to the senescence-associated secretory phenotype (SASP), and their shaped immune microenvironment highly facilitated the activation of downstream immune cells, including T cells, macrophages, and natural killer cells. FB-P30 was most similar to FB-E in terms of general transcriptome features, such as FB migration and proliferation, and aging-related characteristics. FB-D-gal showed the lowest expression levels of senescence-related genes. In comparisons with the single-cell RNA sequencing results, FB-E showed almost complete simulation of the transcriptional spectrum of FBs in elderly patients with atopic dermatitis, followed by FB-P30 and FB-UVB. FB-E and FB-P30 showed higher similarity with the FBs in keloids.
CONCLUSIONS
Each senescent FB model exhibited different characteristics. In addition to showing upregulated expression of natural senescence features, FB-UVB and FB-ATV showed high expression levels of senescence-related genes, including those involved in the SASP, and FB-P30 showed the greatest similarity with FB-E. However, D-galactose-stimulated FBs did not clearly present aging characteristics.
Humans
;
Fibroblasts/drug effects*
;
Cellular Senescence/physiology*
;
Skin/metabolism*
;
Child
;
Transcriptome/genetics*
;
Aged
;
Ultraviolet Rays
;
Cells, Cultured
;
Galactose/pharmacology*
5.Recent global patterns in skin cancer incidence, mortality, and prevalence.
Mingyue WANG ; Xinghua GAO ; Li ZHANG
Chinese Medical Journal 2025;138(2):185-192
BACKGROUND:
Skin cancer is a common skin disease whose incidence and mortality rates have been showing yearly increases. In this report, we update the most recent data on skin cancer as obtained from GLOBOCAN 2022.
METHODS:
The incidence and mortality rates of skin cancer (melanoma of skin and non-melanoma skin cancer) in GLOBOCAN 2022 were reviewed. These data were analyzed and the characteristics of incidence and mortality across five continents and top five countries and regions in each continent are presented. In addition, correlations between Human Development Index (HDI) and age-standardized incidence and mortality rates of these two skin cancers are described.
RESULTS:
The GLOBOCAN 2022 data indicated that melanoma was the 17th most common cancer. An estimated 331,722 people were diagnosed with melanoma globally and approximately 58,667 died from this disease. For non-melanoma skin cancer, it ranks as the 5th most common cancer, and an estimated 1,234,533 people were diagnosed with non-melanoma skin cancer globally and approximately 69,416 died from this disease. The incidence of skin cancer varies across geographic regions and countries, with a predominance observed in Oceania, North America, and Europe. Australia was ranked first in terms of incidence, while incidence rates in Africa and Asia were very low. Despite these regional differences in incidence, there was little geographic variation in mortality rates. Currently, the number of deaths from non-melanoma skin cancer exceeds that of melanoma of skin. HDI was positively associated with the incidence of both types of skin cancers, with a positive correlation obtained between HDI and mortality from melanoma of skin and a negative correlation between HDI and mortality from non-melanoma skin cancer.
CONCLUSIONS
Skin cancer remains a major disease burden worldwide. Substantial variations are observed across countries and regions. Further research on skin cancer will be required to provide a rationale for more effective preventions and treatments of this condition.
Humans
;
Skin Neoplasms/mortality*
;
Incidence
;
Melanoma/mortality*
;
Prevalence
;
Global Health
;
Male
;
Female
6.Tissue-resident memory T cells and their function in skin diseases.
Xibei CHEN ; Yuxin ZHENG ; Xiaoyong MAN ; Wei LI
Chinese Medical Journal 2025;138(10):1175-1183
Tissue-resident memory T (TRM) cells are a recently defined subtype of non-recirculating memory T cells with longevity and protective functions in peripheral tissues. As an essential frontline defense against infections, TRM cells have been reported to robustly patrol the tissue microenvironment in malignancies. Accumulating evidence also implicates that TRM cells in the relapse of chronic inflammatory skin diseases such as psoriasis and vitiligo. In light of these developments, this review aims to synthesize these recent findings to enhance our understanding of TRM cell characteristics and actions. Therefore, after providing a brief overview of the general features of the TRM cells, including precursors, homing, retention, and maintenance, we discuss recent insights gained into their heterogeneous functions in skin diseases. Specifically, we explore their involvement in conditions such as psoriasis, vitiligo, fixed drug eruption - dermatological manifestations of drug reactions at the same spot, cutaneous T cell lymphoma, and melanoma. By integrating these diverse perspectives, this review develops a comprehensive model of TRM cell behavior in various skin-related pathologies. In conclusion, our review emphasizes that deciphering the characteristics and mechanisms of TRM cell actions holds potential not only for discovering methods to slow cancer growth but also for reducing the frequency of recurrent chronic inflammation in skin tissue.
Humans
;
Skin Diseases/immunology*
;
Memory T Cells/immunology*
;
Animals
;
Vitiligo/immunology*
;
Psoriasis/immunology*
;
Immunologic Memory
8.Perceptions of teledermatology in the COVID-19 era: are patients ready for it?
Dawn Ai Qun OH ; Yi Wei YEO ; Shiu Ming PANG ; Choon Chiat OH ; Haur Yueh LEE ; Karen Jui Lin CHOO
Singapore medical journal 2025;66(12):640-644
INTRODUCTION:
The COVID-19 pandemic has changed care provision models, with a rapid increase in the adoption of telemedicine to reduce in-person visits. Although there are many benefits to teledermatology, there are also factors that hinder its widespread adoption. We aimed to examine patients' perceptions of teledermatology to identify the barriers to its adoption.
METHODS:
A prospective study was conducted from 15 June to 14 August 2020. Patients were invited to complete a questionnaire in an outpatient dermatology clinic via direct approach by clinical staff or posters posted at the door of consultation rooms.
RESULTS:
Out of 2,276 clinic attendances, 997 survey responses (43.8%) were collected over a 3-month period. When asked if they would change their subsequent visit to teledermatology, 294 (29.5%) patients were keen, 166 (16.6%) were unsure and 537 (53.9%) declined. Significant factors for declining teledermatology were lack of prior exposure to videoconferencing ( P < 0.01) and lower educational level ( P = 0.019). Patients also raised concerns regarding the ability of teledermatology to address medical concerns (32.1%) and indicated a preference for face-to-face consultation (29.7%).
CONCLUSION
Factors that influence patients' decision to adopt teledermatology, such as concerns about its ability to address medical issues, lack of IT literacy or experience in teleconferencing, are modifiable. Targeted strategies such as careful patient selection, a dedicated teleconsultation workflow, and the use of a novel 'teledermatology patient journey' (including a clinic walkthrough at the first visit) and an intuitive audio-enabled user interface, may improve patient perceptions and adoption of teleconsultation service.
Humans
;
COVID-19/epidemiology*
;
Dermatology/methods*
;
Telemedicine
;
Male
;
Female
;
Prospective Studies
;
Middle Aged
;
Adult
;
Surveys and Questionnaires
;
SARS-CoV-2
;
Aged
;
Perception
;
Young Adult
;
Pandemics
;
Skin Diseases/diagnosis*
;
Videoconferencing
9.Stuck acupuncture combined with facial acupuncture for 22 cases of facial cosmetology.
Menghan LI ; Yuan ZHANG ; Dawei RAN ; Xinming YANG ; Jingyi LI
Chinese Acupuncture & Moxibustion 2025;45(1):41-44
OBJECTIVE:
To observe the clinical efficacy of stuck acupuncture combined with facial acupuncture for facial cosmetology.
METHODS:
A total of 22 female patients with symptoms of facial aging were treated with stuck acupuncture combined with facial acupuncture. Stuck acupuncture was applied at bilateral Taiyang (EX-HN5) through Xiaguan (ST7), Jiache (ST6) through Daying (ST5) and Yingxiang (LI20),once a week. Facial acupuncture was applied at Yintang (GV24+), ashi points (nasolabial fold) and bilateral Yangbai (GB14), Quanliao (SI18), Sibai (ST2), Xiaguan (ST7), Dicang (ST4), Jiache (ST6), Daying (ST5), Renying (ST9), twice a week. Four weeks were required. The global aesthetic improvement scale (GAIS) score after treatment, wrinkle severity rating scale (WSRS) score before and after treatment were observed. The quantitative analysis of skin characteristics was performed before and after treatment.
RESULTS:
After treatment, of the 22 patients, 3 cases had complete improvement, 15 cases had obvious improvement, 4 cases had partial improvement, 0 case had no improvement. The WSRS score and scores of wrinkles, textures and pores were decreased compared with those before treatment (P<0.01).
CONCLUSION
Stuck acupuncture combined with facial acupuncture could effectively improve the symptoms of facial aging.
Humans
;
Female
;
Acupuncture Therapy
;
Middle Aged
;
Adult
;
Face
;
Acupuncture Points
;
Skin Aging
;
Treatment Outcome
;
Aged
10.Correlation between the skin surface temperature at the related back-shu points and the pulmonary ventilation function in patients with chronic persistent asthma based on the theory of "lung governing the skin and hair".
Shaoqian ZHAO ; Mengyu FU ; Nanxin HUANG ; Jipeng ZHOU ; Jinglin HUANG ; Wei LIU ; Hesheng WANG ; Lanying LIU
Chinese Acupuncture & Moxibustion 2025;45(3):274-279
OBJECTIVE:
To observe the skin surface temperature at the related back-shu points in the patients with the different levels of pulmonary ventilation function in chronic persistent asthma, and to explore the correlation between the skin temperature at the back-shu points and pulmonary ventilation function indexes based on "lung governing the skin and hair".
METHODS:
Sixty-one patients with chronic persistent asthma, based on the level of pulmonary ventilation function, were assigned into a reduced pulmonary ventilation function group (reduced function group, 32 cases) and a normal pulmonary ventilation function group (normal function group, 29 cases). In the two groups, the skin surface temperature was measured in the sites of bilateral Feishu (BL13), Geshu (BL17), Pishu (BL20) and Shenshu (BL23); and the pulmonary ventilation function indexes (the percentage of predicted value of forced vital capacity [FVC%pred], the percentage of predicted value of forced expiratory volume in the first second [FEV1%pred], the percentage of predicted value of FEV1/FVC [FEV1/FVC%pred] and the percentage of predicted value of the peak expiratory flow [PEF%pred]) were recorded. The correlation between the skin surface temperature of acupoints and pulmonary ventilation function was analyzed.
RESULTS:
Compared with the normal function group, the surface skin temperature at the bilateral Feishu (BL13), Geshu (BL17), Pishu (BL20) and Shenshu (BL23) was higher in the reduced function group (P<0.05, P<0.01). Compared with the normal function group, FEV1%pred, FEV1/FVC%pred and PEF%pred were decreased in the reduced function group (P<0.001). There was no significant difference in FVC%pred between the two groups (P>0.05). The skin surface temperature at the bilateral Feishu (BL13), Geshu (BL17), Pishu (BL20) and Shenshu (BL23) was negatively correlated with FVC%pred, FEV1%pred, FEV1/FVC%pred and PEF%pred in 61 patients with chronic persistent asthma (P<0.001, P<0.01, P<0.05).
CONCLUSION
The skin surface temperature at back-shu points is elevated in line with the the decline of pulmonary ventilation function in the patients with chronic persistent asthma, presenting a negative correlation with pulmonary ventilation function indexes. It is preliminarily verified that back-shu point is characterized by reflecting the visceral disorders.
Humans
;
Female
;
Male
;
Asthma/therapy*
;
Middle Aged
;
Adult
;
Skin Temperature
;
Lung/physiopathology*
;
Acupuncture Points
;
Pulmonary Ventilation
;
Aged
;
Chronic Disease/therapy*
;
Young Adult
;
Hair


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