Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This study reports a 10-year-old boy with ectodermal dysplasia and progressive balding experienced reduced hair shedding and increased hair density after four months of sublingual minoxidil treatment, without side-effects.

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.

This report describes two Saudi brothers with dermatopathia pigmentosa reticularis who exhibited normal hair shafts despite their condition.

In this study, researchers found that deleting Med1, a key epigenetic regulator in dental epithelia, led to hair growth on mouse incisors by altering enhancer landscapes and causing a switch from dental to hair lineage transcription programs.

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.

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

This article reviews the clinical features of dermatopathia pigmentosa reticularis, highlighting its characteristic triad of symptoms, but provides no new research results.

This study utilized polarized light microscopy to examine hair shafts in ten children with rare genetic disorders, such as Netherton syndrome and ectodermal dysplasia, providing valuable diagnostic insights into hair thickness, composition, and structural irregularities associated with these conditions.

In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.

This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.

This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.

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

This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.

This article reviews various hair abnormalities observable through trichoscopy in conditions like monilethrix, trichorrhexis nodosa, and ectodermal dysplasias, with no new clinical findings reported.

The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.

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 study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.

This conference proceeding abstract provides no new research results, focusing only on event details from the British Association of Dermatology's Forty-Sixth Annual Meeting held in Oxford in 1966.

This study reports a case of Ellis van Creveld syndrome in a 40-year-old Iranian woman, highlighting uncommon features such as pectus excavatum, Phrygian cap gallbladder, liver hemangioma, polycystic ovarian disease, and breast fibrocystic cysts.

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 review discusses the shared molecular and cellular processes in the early development stages of skin appendages like hair follicles, teeth, and mammary glands, reporting no new results.

This study reports previously unrecognized cellular complexity in growing mouse incisors, suggesting species-specific differences in cell dynamics between mouse and human teeth related to growth and differentiation.

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 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.

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 identified WNT10A as crucial for adult epithelial cell proliferation and differentiation, suggesting β-catenin pathway activation may help address regenerative defects in WNT10A mutation patients.

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

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 review discusses the pathogenesis and clinical presentations of alopecia in epidermolysis bullosa patients, noting diverse hair abnormalities and emphasizing the lack of a consensus on its natural history.