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Experts discussed hair care, genetic hair defects, hair loss treatments, nail surgery, lupus treatments, skin infections, and cosmetic allergies.

In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.

This review discusses the mechanisms of skin aging, highlighting the roles of stem/progenitor cells, genetic and environmental factors, and suggests potential for cell-based therapies, but reports no new experimental findings.

This case study describes a 9-year-old boy with monilethrix and associated abnormalities, suggesting a new, severe autosomal recessive variant termed "monilethrix syndrome.

This review discusses recent advances in the understanding of follicular melanogenesis and its pathological changes, particularly how these changes are associated with specific disease phenotypes, but it reports no new results.

This review provides an overview of identified gene variants responsible for congenital skin diseases in dogs and highlights the role of genetic testing in veterinary diagnostics and breeding.

Norfolk Terriers have a genetic skin defect causing scaling and blisters due to a keratin issue.

In this study of a Holstein calf with severe congenital ichthyosis, researchers found increased plasma parameters and specific skin changes, highlighting the genetic and incurable nature of this disease in livestock.

This article reviews major types of genetic hair shaft defects and associated syndromes, emphasizing understanding histologic features and diagnostic methods, but reports no new clinical findings.

Male infertility and genitourinary birth defects are often linked to genetic issues.

This article reviews the clinical and biochemical features of genetic mutations affecting dihydrotestosterone production and their potential role in male pseudo-hermaphroditism, but presents no new clinical results.

This article discusses genetic hair disorders in children, outlining diagnostic approaches and highlighting the significance of distinguishing isolated hair defects from those associated with syndromes, but it reports no new clinical results.

This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.

This study found that individuals with early onset extensive androgenetic alopecia have an elevated ratio of DHT to testosterone, but no significant genetic linkage to markers on chromosomes 2 or 5 was detected.

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 study found that generic quality of life questionnaires, like the SF-36 and DLQI, are not sensitive enough to detect differences in health-related quality of life between patients with varying severity of alopecia areata.

This case report documents a young woman who experienced a visual field defect similar to those linked to vigabatrin use, despite treatment only with valproic acid and carbamazepine, suggestive of a possible metabolic vulnerability in certain patients with specific genetic backgrounds.

In this study, researchers conducted a large genome-wide association meta-analysis and found 30 significant genetic loci linked to the risk of dermatophytosis, shedding light on the roles of keratin biology, skin barrier defects, immune dysfunction, and obesity in the disease.

This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.

This report describes a 27-year-old patient with Ehler-Danlos syndrome who also presented with hypophosphatasia and mastocytosis, and suggests enzyme replacement therapy might alleviate symptoms in such overlapping genetic conditions.

This study found that measuring 24-OHase induction by 1,25(OH)2D3 in cultured skin fibroblasts is a sensitive test for detecting genetic defects in the 1,25(OH)2D effector pathway.

This study found that structural defects in the hair shafts of sighthounds with bald thigh syndrome are related to a downregulation of genes and proteins essential for hair shaft formation.

This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.

This study found that genetic ablation of Tslp in an AEC mutant mouse model reduced skin inflammation and improved survival, suggesting potential therapeutic benefits for AEC syndrome patients.

This review discusses the multifactorial etiology of hypospadias, including genetic predispositions and possible environmental factors, and highlights the need for further studies on genetic and environmental contributions to its increasing prevalence, without presenting new findings.

This study identified histologic lesions and a defect in adhesion molecules causing hair loss in mice with the bal mutation, linked to a mutation in the desmoglein 3 gene.

This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.

In this study, researchers linked defects in U2HR, an inhibitory region in the HR gene, to Marie Unna hereditary hypotrichosis, suggesting a mechanism for controlling hair growth and addressing hair loss.

Two siblings have a rare genetic condition causing curly, coarse hair.

This study described an Appenzeller Mountain Dog with clinical signs of an NSDHL defect, discovering a large heterozygous de novo deletion spanning the entire NSDHL gene through whole genome sequencing.