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This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.

In this study, the researchers observed significant metabolic dysregulation in central centrifugal cicatricial alopecia, particularly involving lipid metabolism and the downregulation of AMPK-related genes.

This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning.

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.

In this study, researchers found that β-catenin directly promotes TERT expression in stem and cancer cells by interacting with the Tert promoter, illustrating a mechanistic link between tumorigenesis and pluripotency.

This study observed distinct differences in hair characteristics between individuals with cardio-facio-cutaneous syndrome and Costello syndrome, highlighting the role of the RAS pathway in these RASopathies and aiding clinical diagnosis.

This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.

More research is needed on CCCA in children, especially Black and Asian adolescents.

This review discusses central centrifugal cicatricial alopecia in adolescents, noting varied presentation and highlighting genetic and environmental factors, but reports no new clinical findings.

This case report identifies a previously undocumented nonsense mutation in DCAF17 in a Chinese patient with Woodhouse-Sakati syndrome, inherited from consanguineous parents.

The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.

This study concluded that removing alopecia and mucous membrane components from the CLASI-A score limits the ability to capture crucial clinical information about cutaneous lupus erythematosus activity, recommending their retention.

This article updates a diagnostic tool (SALT II) for assessing hair loss by adding more precise measurements of scalp surface area, particularly useful for various types of alopecia.

This article describes the development and validation of a standardized instrument for measuring skin involvement in cutaneous lupus erythematosus, aiming to aid future clinical research and trials.

This study found that inhibiting the interaction between HOTAIR and EZH2 can block pro-fibrotic gene expression in fibroblasts and interfere with tissue remodeling in systemic sclerosis patient skin.

This study found that patients with central centrifugal cicatricial alopecia preferred shared decision-making with their doctors regarding treatment management.

This study concluded that the new subfractionation culturing method generates highly homogeneous adipose-derived stem cells with enhanced mitogenic, paracrine, and hair growth-promoting effects compared to traditional isolation methods.

This study found that treating hair with ATS, formed from fumaric acid and cysteamine, effectively improved hair quality by increasing moisture content and altering the internal structure of strong curls.

This report describes the 2024 American Academy of Dermatology Annual Meeting in San Diego, notable for attracting nearly 20,000 attendees with 339 sessions covering a wide range of dermatological topics, making it potentially the largest dermatology meeting by attendance.

Clear definitions and strategies are needed to manage long-term COVID-19 symptoms effectively.

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 case report describes a 10-day-old female with aplasia cutis congenita, presenting with two spontaneously healing ulcers on her buttock and no associated abnormalities.

In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.

This study identified the Arabidopsis cation chloride cotransporter CCC1 as essential for regulating pH and function in the trans-Golgi network/early endosome, with its absence causing significant growth and stress response defects.

This review discusses central centrifugal cicatricial alopecia and emphasizes the need for more research to understand and manage the disease, while also suggesting initiatives like educating hairstylists for early detection.

The Journal of Cutaneous and Aesthetic Surgery is now included in PubMed.

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 study suggests that SOCS3 treatment may effectively inhibit alopecia areata by suppressing CD8+ T cell activity and IFN-γ production.