Autophagy is the essential mechanism for cell adaptation and survival. Under normal physiological conditions, autophagy activates hair follicle stem cells, induces the transition of hair follicles from the telogen phase to the anagen phase, and maintains the hair growth cycle. Moreover, autophagy can protect dermal papilla cells from damage under pathological conditions. Intervention in autophagy can slow the progress of hair loss due to the existence of impaired autophagy in androgenetic alopecia and alopecia areata. The review summarizes the role of autophagy in hair cycle regulation, cell homeostasis maintenance, and hair regeneration, providing new insights into therapeutic options targeting follicular autophagy signaling pathways.

Vitiligo is a common acquired depigmentation skin disease involving the skin and hair, which is caused by the loss of function or reduction in the number of epidermal melanocytes and hair follicle melanocytes. The main principle of treatment is to control the disease progression, promote the repigmentation in lesional areas, and achieve morphological and functional repair. Skin and hair follicle melanocytes are the main source of vitiligo repigmentation, and thus transplantation of the whole tissues or tissue-derived cell suspensions to the vitiligo lesions is often used for the treatment of vitiligo. This review summarizes the progress in the application of hair follicle transplantation and follicular cell suspension transplantation in the surgical treatment of vitiligo.

Objective:To detect pathogenic gene mutations in a patient with CARD14-associated papulosquamous eruption (CAPE) and his family, and to evaluate the short-term and long-term efficacy and safety of ustekinumab treatment.Methods:Clinical data were collected from a 6-year-old child presenting with erythroderma secondary to pityriasis rubra pilaris and from his family members. Peripheral blood samples were collected from the patient, his parents and younger brother, and DNA was extracted from these peripheral blood samples. A next-generation skin-targeted sequencing panel was used to detect gene mutations, and Sanger sequencing was performed for verification. Genomic DNA was also extracted from 100 unrelated healthy controls using the same method.Results:A heterozygous mutation c.349+1G>A in intron 6 of the CARD14 gene was identified in the proband and his mother, but was not identified in his father, younger brother or 100 healthy controls, leading to a diagnosis of CAPE in the proband. The patient received subcutaneous injections of ustekinumab at a dose of 45 mg at weeks 0 and 4, and every 12 weeks thereafter. After 1-week treatment, the skin lesions and symptoms improved markedly. No adverse events were reported during the 18-month treatment and follow-up.Conclusion:The heterozygous mutation c.349+1G>A in the CARD14 gene may be the cause of the disease in this family, and ustekinumab was effective and safe for the treatment of CAPE.

Autoimmunity and the activation of immune cells are closely related to the occurrence of chronic spontaneous urticaria, while the gut microbiota participates in multiple physiological activities including the regulation of the host's immunity. Gut microbiota in patients with chronic spontaneous urticaria has unique structural composition and metabolic features. Gut microbiota imbalance and secondary short-chain fatty acid deficiency may be important causes for the occurrence of the disease and aggravation of inflammation. Studies have shown that probiotics can improve the clinical manifestations of patients with urticaria. This review summarizes the research progress in the correlations of gut microbiota and short-chain fatty acids with chronic spontaneous urticaria.

Objective:To investigate clinical characteristics and genetic variations in a case of self-improving collodion ichthyosis in the adult stage.Methods:An adult patient with clinically suspected self-improving collodion ichthyosis was collected from the Department of Dermatology, Henan Provincial People′s Hospital in April 2023. Clinical data were collected from the patient and her parents. Peripheral blood samples were obtained from them, and whole blood DNA was extracted. Whole-exome sequencing was performed to screen genetic variation sites, which were then verified by Sanger sequencing. The deleteriousness of the identified variants was assessed using pathogenicity analysis software.Results:The 54-year-old female patient presented with facial and neck flushing, mild dry skin on the trunk and limbs, sheepskin-like skin of the dorsal hand, and short fingers. Genetic testing identified two in-frame deletion mutations c.406_408del (p.E136del) and c.769_801del (p.H257_Q267del) in the non-repetitive region of the ALOX12B gene in the patient, which were inherited from her father and mother respectively. Bioinformatics analysis revealed that both genetic variations were deleterious pathogenic mutations.Conclusions:Two in-frame deletion mutations c.406_408del (p.E136del) and c.769_801del (p.H257_Q267del) were identified in the non-repetitive region of the ALOX12B gene in the patient with self-improving collodion ichthyosis, which may contribute to the clinical phenotype of the patient. The mutation c.769_801del had not been reported in literature.

Objective:To analyze the genetic mutation characteristics of the first reported case of DNA ligase Ⅳ syndrome primarily presenting as eczematous dermatitis and purpura in China.Methods:Clinical data were collected from a child with DNA ligase Ⅳ syndrome, and whole-exome sequencing was performed to identify genetic mutations.Results:The patient presented with generalized eczematous dermatitis and purpura, accompanied by pancytopenia, growth retardation, and immunodeficiency. Genetic testing revealed compound heterozygous mutations at three sites in the DNA ligase Ⅳ gene, namely c.467C>T (p.A156V) , c.833G>T (p.R278L) , and c.1271-c.1275del (p.K424fs*20) , among which c.467C>T (p.A156V) had not been previously reported.Conclusion:Children with DNA ligase Ⅳ syndrome may present with eczematous dermatitis and purpura, and compound heterozygous mutations in the DNA ligase Ⅳ gene may represent the genetic cause of this condition.

In recent years, the development of next-generation sequencing has brought a broad prospect for the investigation of the pathogenesis, signal pathways, and biomarkers of skin diseases. Due to the advantages in the recognition of nucleic acid sequences, next-generation sequencing can recognize not only microorganisms on normal skin surfaces, but also rare pathogens which were difficult to be identified before. This review summarizes the application of next-generation sequencing in non-hereditary dermatoses, aiming to explore their pathogenesis and improve their diagnosis.

Systemic scleroderma (SSc) is a fibrotic disease involving the skin and a variety of internal organs, which is currently thought to be mainly caused by abnormal activation of fibroblasts and excessive secretion of extracellular matrix. Growing evidence has shown signaling cascades associated with SSc fibrosis, including transforming growth factor-β/Smads, Notch, Wnt/β-catenin, rat sarcoma/extracellular regulated protein kinases, etc. MicroRNAs participate in the post-transcriptional regulation of different target genes and control the cell state, determining the changes in transcriptomes and proteomes caused by various cellular signaling cascades. This review summarizes recent research progress in the regulatory role of microRNAs in SSc fibrosis-related signaling pathways and potential therapeutic targets.

Objective:To investigate clinical features and non-invasive skin imaging findings of acquired facial hyperpigmented macules in children.Methods:A retrospective analysis was conducted on the clinical characteristics of children with acquired facial hyperpigmented macules diagnosed in the Outpatient Department of Dermatology, Wuhan Hospital of Traditional Chinese and Western Medicine, Tongji Medical College, Huazhong University of Science and Technology from January 2020 to June 2023. Reflectance confocal microscopy and dermoscopy were performed to observe lesions and perilesional normal skin, and the imaging findings were summarized.Results:A total of 131 children with acquired facial hyperpigmented macules were collected, including 88 males and 43 females; their ages ranged from 2 to 25 months, the age at onset was 11.50 ± 7.15 months, and the disease duration was 6.50 ± 4.66 months. The lesions were distributed in the temporal and/or frontal regions, mostly measuring 4 to 10 mm in length. They mainly manifested as non-confluent irregular brown or brownish-red hyperpigmented macules, without scales on the surface. The total number of lesions was less than 10 in 19 cases (14.50%), between 10 and 20 in 75 cases (57.25%), and more than 20 in 37 cases (28.24%). Reflectance confocal microscopy revealed no elongation of the rete ridges, but mild increased pigmentation in the basal layer, slight vascular dilatation in the dermal papilla and superficial dermis, and scattered melanophages and inflammatory cells infiltrating some lesions. Dermoscopy showed pigment networks with varying color darkness, which were distributed along the dermatoglyphs, and mixed with linear or punctate vessels.Conclusions:Acquired facial hyperpigmented macules is a common skin disease occurring in infants and young children, and is characterized by typical lesions by reflectance confocal microscopy and dermoscopy. Histopathological examination may be unnecessary for its diagnosis, and skin imaging techniques can help improve diagnostic accuracy.

Morphea alopecia is a rare secondary cicatricial alopecia, often caused by linear scleroderma of the scalp. When hair loss appears as the only symptom of morphea, it is easily confused with other localized alopecia. The diagnosis of morphea alopecia depends on histopathologic and dermoscopic examinations. In order to improve the understanding of morphea alopecia among clinicians, this review summarizes research progress in its pathogenesis, clinical and pathological characteristics, diagnosis and treatment.