Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study found that individuals with ectodermal dysplasias often have a reduced secretion rate of submandibular saliva and altered protein concentrations, suggesting routine salivary tests may be beneficial in this population.

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 AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.

This review discusses recent advances in developmental tissue engineering for regenerating ectodermal appendages like teeth and glands, emphasizing biomaterial selection and cell culture strategies, but reports no new experimental results.

This case report describes a patient with Clouston's syndrome and alopecia who responded positively to topical treatment with minoxidil and tretinoin.

This study found that Fibroblast growth factor-9 (FGF-9) accelerates epithelial invagination in engineered ectodermal organs and suggests its potential role in organogenesis and regeneration research.

This study found that Naked trait mice exhibit a decrease in certain low-molecular-weight proteins in their hair, which contain high levels of glycine and tyrosine, compared to normal mice.

This review examines the role of stem cells and their niches in continuously growing ectodermal organs like teeth, hair, and claws, providing insights from mouse models without presenting new research findings.

This report describes a case where a 4-year-old boy with congenital alopecia due to hypohidrotic ectodermal dysplasia experienced significant hair growth after using topical minoxidil.

In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.

This article discusses a case study supporting the reclassification of KID syndrome as an ectodermal dysplasia, introducing a potential treatment combination that may alleviate symptoms in affected patients.

This case report observed that after 6 months of treatment with topical cetirizine and oral vitamin D, hair density and quality improved in three girls with congenital hypotrichosis due to ectodermal dysplasia.

This article reviews the roles of several signaling pathways and molecules, including FGFs, Hh, Notch, TGF, and Wnt, in the development of teeth and hair follicles, but reports no new findings.

This chapter discusses stem cell activity in feather and hair follicles, emphasizing how stem cells maintain their population by cycling between quiescence and activation in specialized niches but reports no new results.

In this study, researchers successfully generated hair follicle organoids using human induced pluripotent stem cells (hiPSCs) with collagen I as a microenvironment, demonstrating potential applications in hair regeneration, though fully human organoids require additional approaches.

This study in a nine-year-old boy from Lebanon identified a gene mutation (c.1066dup p.(Arg356Profs*16)) associated with a rare inborn error of immunity, characterized by craniosynostosis, jaundice, and several other symptoms, expanding the known genotypic and phenotypic spectrum of this condition.

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 case report highlights that early signs like pili torti may precede lichen planopilaris in some patients, emphasizing the importance of timely intervention to prevent permanent hair loss.

This case report describes a novel NECTIN4 gene mutation linked to ED-syndactyly syndrome 1 in a young girl, contributing to the understanding of this rare ectodermal dysplasia.

This case report documents the first known occurrence of alopecia areata in a patient with ectodermal dysplasia linked to a WNT10A mutation, suggesting potential shared genetic factors in hair loss pathways.

This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.

This study explored the genetics of inherited developmental defects in dogs and identified novel mutations affecting traits like caudal dysplasia, ectodermal dysplasia, and mucopolysaccharidosis VII, suggesting dogs as models to study human diseases.

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.

This study validated a protocol for inducing surface ectoderm differentiation from human induced pluripotent stem cells and highlighted the role of TGFβ signaling pathways in this process.

This study found that reducing HDAC1 activity in the skin of mice led to defects in hair follicle structure and pigmentation, highlighting HDAC's role in skin and hair maintenance.

This study observed that severe bronchitis may occur in individuals with anhidrotic ectodermal dysplasia when exposed to a dusty environment, potentially due to abnormalities in the bronchial mucosa.

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 report describes a rare case of hair and nail ectodermal dysplasia in a 3-year-old girl, where treatment with topical minoxidil resulted in minimal improvement after 12 months.

This case report describes a 16-year-old with ectrodactyly-ED-clefting syndrome, where scarring alopecia with follicular involvement appeared during puberty, possibly due to anatomic hair abnormalities.