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In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.

This review describes how recent discoveries in genetic defects and alternative pathways in androgen biosynthesis are reshaping our understanding of male sexual differentiation, but it presents no new clinical findings.

This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.

This study found that inhibiting the enzyme ornithine decarboxylase (ODC) prevented UVB-induced basal cell carcinomas in a mouse model, suggesting ODC is a potential target for chemoprevention strategies.

This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.

This case report describes a patient in whom vitiligo was induced by diphenylcyclopropenone treatment for alopecia universalis, highlighting the potential overlap of susceptibility genes between the two conditions.

Elderly patients with CCCA were all African American with low vitamin D, but no iron or zinc deficiencies, and no hormonal imbalances compared to younger patients.

This study found that the DOX derivative AD198 more effectively inhibited cell viability and induced apoptosis in canine cancer cell lines K9TCC and K9OSA compared to DOX in vitro.

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.

Genetic factors, especially PADI3 gene variants, contribute to CCCA in women of African descent.

This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.

Hair shaft malformation contributes to Central Centrifugal Cicatricial Alopecia.

In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.

In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.

This study suggests that DPCP treatment can be effective and safe for severe alopecia areata in children, with maintenance therapy potentially reducing relapse rates.

In this study, researchers identified CENPV as a new CYLD interacting partner that localizes to primary cilia and regulates acetylated tubulin levels, offering insights into the pathogenesis of skin appendage tumors.

This review discusses the use of topical immunotherapy for severe alopecia areata and resistant viral warts, highlighting diphencyprone's advantages and the need for careful handling to avoid staff sensitisation; it reports no new clinical results.

In this study, researchers found that CCCA in women of African descent is associated with molecular changes, including dysregulation of fatty acid metabolism and fibrosis pathways, suggesting potential targets for new treatments.

This study found that Diphenylcyclopropenone (DCP) was effective for treating extensive alopecia areata in Thai patients, although a high relapse rate suggests maintenance therapy might be necessary.

This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.

Diagnosing and treating CCCA requires understanding multiple causes and using various diagnostic tools.

This study found that individuals with heterozygous truncation-type variants in the *DSP* gene exhibit lower skin temperature and higher transepidermal water loss, with specific microscopic skin changes and pseudomonilethrix.

This study found that applying both dehydrothermal treatment and carbodiimide crosslinking improved the mechanical properties of porcine acellular dermal matrix scaffolds without added cytotoxicity, suggesting potential applications in tissue engineering.

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.

In this case study, a 19-month-old infant with palmoplantar keratoderma and nail dystrophy was found to have a desmoplakin gene mutation, leading to cardiomyopathy by age 7, illustrating diagnostic challenges and the potential link between skin, dental, and cardiac anomalies.

This study in a transgenic mouse model found that repressing overexpression of ornithine decarboxylase reduced papilloma development, indicating its role in tumor promotion sensitivity.

The researchers found that corneodesmosin is crucial for maintaining skin barrier integrity and hair follicle architecture in mice, with its deletion leading to severe skin and hair abnormalities.

This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.

This case report identified a 6-month-old girl with congenital generalized hypertrichosis and gingival hyperplasia, where a de novo CNV on chromosome 17q24.2-24.3 was associated with reduced expression of ABCA5 and SOX9.