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This study identified novel mutations associated with ectodermal dysplasias in Pakistani families, including a missense mutation in the KRTHB5 gene linked to pure hair-nail ectodermal dysplasias and mutations in the EDAR gene related to hypohidrotic ectodermal dysplasia.

New gene mutations linked to skin conditions were found, bacteria and chemicals may worsen acne, a dog mutation could exist in humans, virus-like elements might be involved in psoriasis, and a vitamin D3 treatment doesn't prevent chemotherapy-related hair loss.

This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.

Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.

In this review, researchers highlighted the prevalence of hereditary hair diseases in the Japanese population, emphasizing the significant impact of LIPH gene variants on autosomal recessive woolly hair and the importance of continued research to better diagnose and manage these disorders.

In this study, researchers identified a novel congenital skin disorder in Chesapeake Bay retrievers, linked to a plakophilin-1 deficiency due to a genetic mutation, marking the first known occurrence in an animal species.

The document explains the genetic causes and characteristics of inherited hair disorders.

This study reports a rare cluster of four patients with ectodermal dysplasia, highlighting its typical dental and dermatological manifestations and the necessity of multidisciplinary management.

People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.

This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.

This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical 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.

This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.

This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.

In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.

This study describes the otolaryngologic manifestations and multidisciplinary management strategies for 12 patients with ectodermal dysplasia, emphasizing the importance of early recognition for effective treatment.

This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.

This study identified a missense variant in the EDA gene of a male cat, which likely caused hypohidrotic ectodermal dysplasia, characterized by hair and teeth abnormalities; this represents the first report of such a genetic condition in cats.

In this study, HED patients with COVID-19 showed a higher risk of postinfection fatigue and hair loss compared to controls, suggesting they are more susceptible to long-term consequences of SARS-CoV-2 infection.

This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.

This study identified chemokine receptor ligands cxcl10 and cxcl11 as new hair-specific transcriptional targets of the Eda pathway, suggesting chemokine signaling plays a role in primary hair follicle patterning.

This study reported that Rapp-Hodgkin syndrome, AEC syndrome, and EEC syndrome are likely part of a single genetic disorder spectrum linked to mutations in the TP63 gene.

This review summarizes the role of Ectodysplasin A signaling in skin appendage development and various diseases, noting potential clinical applications but reporting no new research findings.

This study investigated the histopathology of ectodermal dysplasia/skin fragility syndrome, identifying specific skin and hair abnormalities associated with PKP1 gene mutations in two young female patients.

This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.

In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.

This case report describes a father with HOXC13-associated pure hair-nail ectodermal dysplasia, presenting with severe nail dystrophy affecting all digits and notable hypotrichosis or complete alopecia.

This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.

This narrative review explores the molecular mechanisms driving skin development and their role in skin diseases, emphasizing how disruptions in these pathways can lead to conditions like congenital disorders and cancers, potentially guiding new targeted therapies.

This review discusses recent advances in the genetic understanding of inherited hair and nail disorders and reports no new clinical results.