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This review discusses genetic conditions linked to complete scalp alopecia in children, identifying six genetic causes, but reports no new clinical results.

In this case report, a 10-month-old ethnic minority infant from Xinjiang with acrodermatitis enteropathy improved clinically and biochemically after zinc supplementation, underscoring the importance of early genetic testing for SLC39A4 mutations and individualized zinc therapy in managing this disorder.

This study identified a gene variant in the TRPV3 gene that may explain the suri alpaca phenotype, characterized by longer and less crimped fleece, suggesting this variant's involvement in the development of these hair characteristics compared to the huacaya phenotype.

In this in silico study, researchers analyzed nonsynonymous SNPs in the LIPH gene linked to hypotrichosis and identified three potentially harmful variants (W108R, C246S, and H248N) out of 215 total, using sequence- and architecture-based bioinformatics techniques to differentiate between harmful and benign SNPs.

This review discusses biotin and biotinidase deficiencies, their symptoms, and methods of medical management, without presenting new clinical findings.

This review discusses the role of corticotropin-releasing hormone in human skin, focusing on its regulation, receptors, and functions, and highlights parallels with the hypothalamo-pituitary-adrenal axis; it reports no new research findings.

This study found that while the KRTAP gene family is unique to mammals, humans have a similar number of these hair gene types as other primates despite having less body hair.

This study found that mutations in the FGF5 gene are the primary genetic factor causing long hair in domestic cats through an autosomal recessive mechanism.

This study suggests that myotonic dystrophies may qualify as segmental progeroid disorders due to molecular and clinical similarities with typical progeroid syndromes.

This review discusses the role of Notch signaling in skin diseases such as Hidradenitis Suppurativa and Psoriasis, but reports no new clinical results.

This review discusses the expanded understanding of WNT10B's role in various tissues and diseases over the past decade, emphasizing its genetic correlations and potential therapeutic implications, but reports no new clinical results.

This study found that hair shaft miniaturization in aging and genetic hypotrichosis leads to hair follicle stem cell loss through mechanical compression and apoptosis mediated by the Piezo1 channel.

This review focuses on the role of the transcription factor Foxn1 in skin biology and discusses its potential implications for regenerative medicine, but reports no new clinical results.

This article reviews congenital adrenal hyperplasia, a group of rare genetic disorders affecting steroid synthesis, and highlights the need for specific therapy and ongoing monitoring, but reports no new clinical findings.

This study identified four genetic loci on chromosomes 6, 10, 16, and 18 that may contribute to susceptibility for alopecia areata and suggested shared genetic factors with psoriasis.

This study concluded that heterozygous NFKB2 mutations lead to a distinct and severe form of primary immunodeficiency with early onset, primarily T cell-mediated autoimmunity, and impaired B-cell differentiation.

This review explores the emerging roles of NK cells in various diseases, including allergies and skin conditions, and reports no new clinical results while indicating NK cell involvement in immune processes.

This study reported that inhibiting the JAK-STAT pathway with baricitinib restored cellular homeostasis, delayed senescence, and reduced proinflammatory markers in Hutchinson-Gilford progeria syndrome cell models.

This study found that overexpression of sPLA2-X in mice was associated with alopecia and hair follicle abnormalities, highlighting its potential role in hair follicle homeostasis.

mTORC2 is crucial for healthy skin barrier by regulating lipids and filaggrin.

This study reports that a widespread founder SERPINB7 mutation underlies Nagashima-type palmoplantar keratosis, which is a common form of palmoplantar keratosis in Asian populations.

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

This workshop reviewed various roles of endoplasmic reticulum chaperones, including calreticulin, in cellular signaling, disease states, and potential markers, but reports no new experimental findings.

This review examines the role of autoinflammation and immune dysregulation in hidradenitis suppurativa, linking it to genetic factors and autoinflammatory syndromes, but highlights the need for further research to fully understand its pathogenic mechanisms.

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 review summarizes the state of organoid technology, highlighting its potential to transform biomedical research and regenerative medicine by providing accurate models for disease study, drug discovery, and potentially developing functional organs for transplantation.

This study found that mice with a homozygous knockout of the Ten1 gene, developed through CRISPR-Cas9-mediated exon 3 deletion, exhibited telomere shortening and symptoms consistent with accelerated aging, such as reduced lifespan, skin changes, aplastic anemia, and cerebellar hypoplasia.

This review highlights that hirsutism in the GCC is influenced by genetic and lifestyle factors, cultural stigmas, and lacks adequate diagnostic tools, stressing the need for culturally tailored research and public health initiatives.

This study presents a rare case where a patient with a heterozygous mutation in the HTRA1 gene, typically considered non-pathogenic, exhibited severe symptoms and typical features of CARASIL, expanding the understanding of this condition.

This review of DAVID syndrome cases found that ACTH deficiency often preceded by sinus infections or alopecia is linked to specific NFKB2 gene mutations, highlighting the importance of early diagnosis to prevent complications.