Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

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 molecular mechanisms involved in hair and epidermal development, highlighting how studies on human inherited diseases and mouse models have deepened our understanding; it reports no new results.

This case report highlights a 17-year-old female with Kartagener's syndrome and ectodermal anomalies, such as alopecia and dental issues, suggesting a possible novel syndromic variant, with genetic testing recommended to distinguish it from a dual diagnosis.

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

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 review discusses the diagnostic and therapeutic challenges of hair shaft disorders and suggests diagnostic tools like trichoscopy and light microscopy, but reports no new clinical results.

This article reviews common scalp and hair disorders in children and adolescents and outlines diagnostic approaches, but reports no new clinical findings.

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

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.

This study investigated Cronkhite-Canada syndrome in ten patients, finding severe taste abnormalities in the anterior tongue linked to tongue papillary atrophy, which improved with treatment. Taste function tests were helpful in evaluating treatment effectiveness for this rare disorder.

This review discusses keratin disorders and potential RNA interference therapeutics, reporting no new clinical findings but highlighting the promise of siRNA for future treatments.

This paper reviews the genetic aspects of hair disorders and suggests that understanding these genes could advance treatment and diagnosis; it reports no new experimental findings.

This study developed an in vitro model using NTERT keratinocytes expressing AEC-related TP63 mutations, which replicated skin defects observed in AEC patients and offers a valuable tool for understanding the disorder and developing new treatments.

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 case report details a 21-year-old woman with dermatopathia pigmentosa reticularis, presenting with generalized reticulate hyperpigmentation, diffuse noncicatricial alopecia, onychodystrophy, palmoplantar keratoderma, and poorly developed dermatoglyphics.

This review discusses genetic conditions linked to complete scalp alopecia in children, identifying six genetic causes, but reports no new clinical results.

This study confirmed linkage of Clouston syndrome in a large Indian family to the 13q11-12.1 region, suggesting it shares a genetic basis with French Canadian cases.

This review proposes a classification system for childhood hair loss based on clinical appearance, age of onset, and associated symptoms, but reports no new clinical results.

In this case report, the authors suggest an association between prolonged finasteride use and anterior subcapsular cataracts, as observed in a 43-year-old man, marking the first reported instance.

This study identified a new mutation in SELH/Bc mice causing distinctive whisker and body hair abnormalities, mapped near the type I keratin cluster on chromosome 11.

This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.

This study found that the progression of fetal skin development, marked by key features like the appearance of hair follicles and eccrine sweat glands, can help determine fetal age and predict congenital skin diseases.

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

This study identified several genetic mutations linked to hereditary skin and hair disorders in consanguineous families from remote areas of Pakistan, enhancing understanding of the molecular basis of these conditions.

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.

A new EDA gene mutation was found in a Chinese family with a specific skin disorder.

This report describes a neurometabolic disorder linked to gain-of-function variants in the ODC1 gene, characterized by developmental delay, ectodermal abnormalities, and notable facial and neuroimaging features.

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.

In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.

This article reviews the structural similarities and common disorders of hair and nails, highlighting their joint involvement in congenital and acquired conditions, but it reports no new clinical results.