Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

In this study, the authors emphasize the importance of accurately diagnosing congenital atrichia with papules—a condition marked by hair loss and papular skin lesions—differentiating it from other similar disorders to prevent unnecessary treatments and inform families about its benign but irreversible nature.

This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.

This article discusses the use of dermoscopy for diagnosing hair and scalp disorders in children and reports no new clinical results.

This review discusses the role of connexin mutations in various human disorders, highlighting their impact on ectodermal epithelial phenotypes like hearing loss and skin abnormalities, but it presents no new clinical findings.

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.

New gene discoveries have improved diagnosis and treatment for skin and hair disorders, but more research is needed to fully understand them.

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

This review highlights the role of the glycoprotein WNT10A in human tissue and organ development, exploring its genetic structure, expression, and association with disorders like ectodermal dysplasia and pathological conditions such as fibrosis and cancer.

In this comprehensive review, researchers examine the p63 gene's crucial role in skin development and pathology, highlighting its regulation of cell processes and its potential therapeutic implications for disorders like ectodermal dysplasia.

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 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 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 case report, a 45-year-old Jordanian woman was diagnosed with Clouston syndrome, an autosomal-dominant disorder characterized by alopecia and nail dystrophy due to a mutation in the GJB6 gene, though she lacked the typical palmoplantar keratoderma.

In this report, a preterm neonate was found to have total irreversible hair loss due to congenital atrichia, confirmed by a mutation in the human hairless gene on chromosome 8p22, illustrating this rare autosomal recessive disorder.

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.

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

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.

In this study, transfection experiments showed that mutations in the K85 gene affect filament formation with K35, which may impact hair formation related to ectodermal dysplasia.

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 source reports that four weeks of dupilumab treatment led to notable improvement in skin lesions, including multiple erythematous patches and papules on the face, back, and limbs.

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

This report describes a patient with X-linked hypohidrotic ectodermal dysplasia who lacked the usual hair growth issues, highlighting the challenge of diagnosing this condition due to atypical presentations and underscoring the need for awareness to improve management and future planning.

In this study, researchers identified two distinct homozygous mutations in the KRT85 gene among consanguineous Pakistani families with pure hair and nail ectodermal dysplasia, highlighting variations in severity and potential impacts on the K85 protein function.

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

This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.

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.

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.