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This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.

This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.

This article reviews Miriam Arbeit's skill-based model for promoting adolescent sexual development, highlighting its focus on adolescents as active participants in their own sexual growth but noting areas for further expansion.

This study identified multiple genetic variants in Pakistani families with oculocutaneous albinism, including two novel variants, enhancing understanding of its genetic basis and aiding better management and counseling.

This study identified three variants in the HR gene among Mexican patients with alopecia areata, with one novel variant potentially serving as a risk factor for the disease.

This study identified eight mutations in five genes associated with different aspects of ichthyosis among Tunisian patients, enhancing understanding of its genetic and clinical diversity.

This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.

This review examines the use of computer vision techniques, specifically deep learning architectures and image processing algorithms, for detecting and assessing skin conditions like vitiligo and dermatitis, and highlights the need for disease-specific datasets to improve automated diagnostic tools in dermatology.

This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.

This study found that a 12-week regimen of a botanical supplement significantly improved skin and scalp health in women exposed to high pollution, enhancing factors like skin radiance, moisturization, and reducing wrinkle depth and scalp redness compared to a placebo.

This review highlights that microRNAs (miRNAs) play crucial roles in hair follicle development and cycling in cashmere goats, detailing recent advances in understanding their regulatory functions and potential applications in improving cashmere fiber quality and diagnosing hair disorders.

In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.

This study identified several rare genetic variants related to insulin resistance in women with PCOS, highlighting the potential for monogenic conditions in patients with extreme or atypical phenotypes.

This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.

This study presented cases where potentially significant germline variants were unexpectedly found during genomic profiling for myeloid malignancies, discussing the challenges in genetic counseling and management, especially when variants don't match the patient's condition.

This case report identifies a 32-year-old woman with undiagnosed PHPT-1a who exhibited complete pseudo-anodontia and persistent patchy alopecia areata, suggesting these may be new nonclassical features of a GNAS pathogenic variant.

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 review discusses the American Society of Preventive Oncology's focus on cancer prevention and highlights the ongoing challenges and developments in screening, tobacco control, and the need for innovative risk-reduction strategies; it reports no new research findings.

This study found that DHA, a derivative of artemisinin, shows potential as a cosmetic ingredient due to its anti-aging, anti-hair loss, antibacterial, whitening, and anti-glycation activities.

The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.

This study identified nine pathogenic variants in the PADI3 gene and variants in the S100A3 and TCHH genes in patients with central centrifugal cicatricial alopecia, suggesting a broader genetic basis for the disease and potential targets for genetic testing and therapies.

This source reports that a comprehensive review of LSS gene variant phenotypes enhances understanding of congenital hypotrichosis 14 and could guide more precise genetic counseling and future research into disease mechanisms and potential therapies.

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 case study reports a novel mutation in the TRPV3 gene causing atypical Olmsted syndrome, characterized by disabling keratoderma and squamous cell carcinoma, highlighting the need for careful long-term monitoring in affected patients.

This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.

This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.

This case report documented an elderly woman with delusional parasitosis, a belief of being infested by parasites, which was associated with severe anemia and resolved significantly after anemia treatment and antipsychotic medication.

In this study on Angora rabbits, researchers identified genetic factors influencing wool fiber diameter by analyzing hair follicle proteins, highlighting keratin family members and other proteins as key contributors to fiber differences between coarse and fine wool.

In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.

This study reports the development of a prototype robotic hair transplant system capable of efficiently harvesting and implanting hair grafts, showing promising accuracy and performance in tests using a spherical scalp phantom.