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This study found a severe MBTPS2 gene mutation in a Japanese IFAP syndrome patient, suggesting other factors may influence the syndrome's clinical features compared to previously studied patients.

This study found that a mutation in the seventh exon of the KRT86 gene plays a major role in the pathogenesis of monilethrix in a Chinese family.

A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.

This study found that in PCOS patients, variations in the lipin 1 gene, particularly the intron 1 SNP, may protect against insulin resistance and glucose intolerance, highlighting a potential genetic factor in the disorder's cardiometabolic complications.

This reported case of lichen planopilaris in siblings suggests a potential genetic predisposition, supporting the hypothesis of inherited susceptibility in this condition.

This study found that transgenic mice expressing a mutant CYLD protein lacking deubiquitinase function showed signs of premature aging and spontaneous tumor development, likely due to over-activation of specific molecular pathways and chronic inflammation.

This study suggests that the harlequin ichthyosis mouse model closely resembles human type 2 harlequin ichthyosis, indicating its potential as a useful model for studying the human condition.

This review highlights LTBP1 as a critical integrator in disease processes, showing its dual role in cancer progression and suppression, its pathological influence in fibrosis, and its contribution to various disorders, suggesting its potential as a biomarker and therapeutic target.

This review discusses recent insights into Birt–Hogg–Dube syndrome, including the functions of the FLCN gene and clinical recommendations for screening and treatment, but it reports no new experimental results.

This report discusses a potentially underdiagnosed form of multisystem Langerhans cell histiocytosis in infants, demonstrating the use of thymic sonography for staging, highlighting a case where thymic and cutaneous involvement was confirmed, and suggesting thymic ultrasound may aid in better diagnosis and management of LCH.

In this study, repressing β-catenin/Lef1 signalling in mouse epidermis led to progressive hair loss, dermal cysts, and spontaneous skin tumors with sebaceous differentiation, indicating altered keratinocyte differentiation and potential tumourigenic processes.

In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.

This study investigated the relationship between lichen planus and dyslipidemia but did not report any clinical findings.

This study found that Ldh activity in hair follicle stem cell-mediated squamous cell carcinoma is not necessary for tumorigenesis, as its modulation did not affect the cancer's development or characteristics.

This study found that selective deletion of PIKFyve kinase using a PF4 promoter in mice led to defective platelet lysosome biogenesis and a prothrombotic effect, with unexpected macrophage infiltration in multiple organs.

This study observed that the SREBF1 mutation c.1669C>T (p.Arg557Cys) may act as a recurrent hotspot mutation associated with both hereditary mucoepithelial dysplasia and autosomal-dominant ichthyosis follicularis with atrichia and photophobia syndrome, suggesting they may be on the same clinical spectrum.

In this study, researchers observed that knocking down the LPA 4 receptor in zebrafish embryos led to vascular and lymph vessel development abnormalities, including edema and decreased heartbeats.

This study suggests that the interaction between folliculin and plakophilin-4 (p0071) may play a role in folliculin's tumor suppressor function by regulating RhoA signaling, impacting cell migration and junction formation.

In this research, RNA expression analysis of scalp biopsies from lichen planopilaris patients revealed changes in specific genes after treatments with hydroxychloroquine, narrow band UVB, or low level laser light therapy, suggesting potential biomarkers and implicating M2 macrophages in the disease's immunopathogenesis.

A gene mutation causes a rare hereditary hair loss, offering potential for new treatments.

This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.

This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.

This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.

This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.

This letter to the editor shares a case study of lentiginous melanoma that appears clinically malignant but histopathologically benign, involving the BRAFV600R mutation.

This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.

This study found that a specific T-cell receptor motif associated with lipid-antigen stimulation may play a role in the pathogenesis of folliculotropic mycosis fungoides.

In a mouse model study, researchers observed that the absence of MCPIP1 in myeloid cells decreased susceptibility to chemically induced skin papillomas but caused significant hair loss and skin pigmentation changes, suggesting a role for MCPIP1 in skin carcinogenesis and follicle integrity.

This study identified the rough coat mutation in mice, but found that LOXL is not the causal gene, although its downregulation might contribute to related phenotypic changes.