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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 study identified nine pathogenic variants in the PADI3 gene, and variants in the S100A3 and TCHH genes, which may disrupt protein function and contribute to central centrifugal cicatricial alopecia.

This study found that rare germline pathogenic variants in BRCA2, BRCA1, and ATM are associated with increased risk of aggressive prostate cancer.

Minoxidil solution applied twice daily improved hair growth in patients with Woolly Hair/Hypotrichosis due to LIPH gene issues, with mild side effects.

Genetic changes in specific proteins contribute to hair loss in some women of African descent.

This article presents a family case study of dermatopathia pigmentosa reticularis linked to a specific KRT14 gene variant, detailing symptoms and stressing the importance of molecular diagnosis for management.

This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.

This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.

This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.

In this study, researchers identified three pathogenic de novo genetic variants contributing to epidermolysis bullosa simplex in young children, highlighting the complexity of genetic influences and underscoring the need for early genetic screening for accurate diagnosis and effective management.

A new genetic mutation causing Xeroderma Pigmentosum was found in an 8-year-old girl, affecting her DNA repair.

This study identified 11 previously unreported ABCA12 variants associated with varying severities of autosomal recessive congenital ichthyoses and expanded the phenotype spectrum of ichthyosis linked to these variants.

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 case report describes a 15-year-old girl with features of Becker naevus syndrome, highlighting the importance of DNA analysis from skin to confirm the diagnosis after 9 years of symptoms.

This study found that patients with the MITF p.E318K variant are more likely to develop multiple primary melanomas and dysplastic nevi with uncommon dermoscopic patterns compared to non-carriers.

This case report described two siblings with uncombable hair syndrome characterized by unique hair features, and identified a new pathogenic variant in the PADI3 gene (c.1374dup; p. Val459ArgfsTer15) not previously documented.

This study found that alopecia areata patients have higher odds of certain comorbidities like ulcerative colitis and vitiligo, while showing lower odds for conditions like hypertension and type 2 diabetes compared to healthy controls.

This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.

In this study, researchers identified a novel genetic variant in the NR3C1 gene in a mother and her son that predicts a truncated protein, leading to glucocorticoid resistance syndrome with mild hyperandrogenic features, although no clear genotype-phenotype correlation has been established.

In this study, researchers identified a novel and two previously reported pathogenic mutations in the HR gene associated with atrichia with papular lesions in five Pakistani families.

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 report on individuals with AEBP1-related classical-like EDS confirmed previous findings and identified hair loss as a potential characteristic feature of this rare condition for the first time. Additionally, cardiovascular complications observed in some individuals suggest that cardiovascular monitoring may be necessary.

This letter discusses potential pathogenetic links among frontal fibrosing alopecia, androgenetic alopecia, and fibrosing alopecia in a pattern distribution and reports no new clinical findings.

This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.

This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.

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 suggests that minoxidil may improve hypotrichosis in patients with ARWH due to LIPH variants, but a possible genetic factor could affect its efficacy within families.

In this study, a 3-year-old Japanese child with autosomal recessive woolly hair was found to have a distinctive irregular and rough cuticle on the hair shaft, along with a homozygous pathogenic LIPH variant, suggesting a critical role for genetic analysis in understanding rare hair conditions.

The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.