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This study reports a unique case of common variable immunodeficiency with autoimmunity linked to a heterozygous S250C variant in the autoimmune regulator gene, suggesting a potential molecular basis for this combination.

This report describes a case of Ambras syndrome with a chromosomal inversion on chromosome 8, similar to a previous case, but not associated with altered androgen levels.

This study found that while the CLASI is generally useful for assessing disease activity and damage in cutaneous lupus erythematosus, it may not accurately reflect all subtypes, indicating a need for revision.

This case report describes a patient with Cronkhite–Canada syndrome, where immunosuppression and nutritional support led to disease remission.

In this study, the novel thiol-Michael click perming molecule, MA2-CySS, achieved repeatable perming with reduced oxidative damage, preserving hair keratin's structure while maintaining efficiency comparable to traditional oxidative methods.

This study observed that genetic variation in the ovine KRTAP22-1 gene is linked to increased wool yield and decreased fiber curvature in sheep, indicating its potential use in breeding programs.

This study found that small molecule AP-1 inhibitors may selectively target SMO inhibitor-resistant basal cell carcinoma cells characterized by specific markers, potentially enhancing combinatorial cancer therapies.

In this study, researchers evaluated CS12192, a selective JAK3 inhibitor, in an alopecia areata mouse model and found it reversed hair growth inhibition comparably to baricitinib, with better safety and similar immune-modulating mechanisms.

This proof-of-concept study reported that a new, ultra-fast, one-step immunohistochemistry method improved the interpretation of Mohs surgery slides, particularly for poorly differentiated tumors.

This study found that alopecia areata patients with a CCHCR1 gene variant had higher recurrence rates and structural abnormalities in hair compared to those without the variant.

In this case study, researchers detailed two Saudi cases of the ultra-rare Trichohepatoneurodevelopmental syndrome, identifying pathogenic variants in the CCDC47 gene and reinforcing a strong gene-disease association, which helps clarify the disorder's clinical features and genetic mutations.

This study describes trichoscopic findings in 11 dark-skinned women with central centrifugal cicatricial alopecia and highlights the potential of trichoscopy for early diagnosis and treatment.

This study established that the Dct::CreERT2 mouse line is effective for targeting and studying adult melanocyte stem cells, contributing to the understanding of melanocyte biology and hair pigmentation.

This report presents the first documented case of CARASIL in an Arabic patient and notes unique magnetic resonance spectroscopy findings compared to prior cases.

This study found that overexpression of the FA2H gene in cashmere goats' hair follicle cells may enhance hair proliferation and regulate genes affecting cashmere fineness.

This study reported that a Megsin-Cre transgene enables genetic manipulation primarily in skin, forestomach, and esophagus tissues, offering a new tool for studying development and diseases in these areas.

In this mouse study, the absence of the Ascl4 gene did not affect the development of hair follicles, teeth, or mammary glands, suggesting it is non-essential for these processes.

This report describes a novel AR gene mutation in a female patient, contributing to androgen insensitivity syndrome, and emphasizes its potential impact on genetic counseling.

This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.

This study highlights that mutations in the MBTPS2 gene can lead to dermatological disorders like IFAP syndrome and severe bone diseases such as X-Linked Osteogenesis Imperfecta, emphasizing the significance of understanding these genetic variants for disease mechanisms and associations.

This observational study concluded that anti-Ku antibodies do not specifically indicate any systemic autoimmune disease or associated clinical phenotype.

This study observed that reduced activation of SMAD2/3 proteins in cutaneous squamous cell carcinoma tissue compared to adjacent tissue may indicate a tumor suppressor role in disease progression.

This review discusses central centrifugal cicatricial alopecia, emphasizing its clinical features, potential contributing factors, and treatment options, but does not report new clinical findings.

In this study, conditional inactivation of the Mad2l1 SAC gene in mice led to aggressive and lethal acute lymphoblastic leukemia and hepatocellular carcinoma, demonstrating a link between chromosomal instability and cancer development.

This report describes a case of Cronkhite-Canada syndrome diagnosed in a 54-year-old man with symptoms including gastrointestinal polyps, alopecia, skin hyperpigmentation, and severe diarrhea, who experienced significant symptom improvement with azathioprine.

This study found that a combination therapy of subcision, micro-needling, and TCA CROSS led to significant improvement in atrophic acne scars, with many patients showing improved scar grades over the treatment period.

The document discusses a special exam case for formulating and using systemic therapy named Athena.

This study identified collagen XXII as a novel extracellular matrix protein specifically present at tissue junctions, where it functions as a cell adhesion ligand for skin epithelial cells and fibroblasts.

This study suggests that activation of polyamine catabolism in K6-SSAT transgenic mice may significantly increase skin tumor development and progression to carcinomas following chemical induction.