Search

everythingexperts & clinicslearnfaqsresearchcommunity

for

Search:↓

This paper offers detailed tables of genotypic and phenotypic data on horses, including markers, variants, and haplotypes, but reports no new research results.

This study found that epidermal growth factor receptor inhibitors can induce erosive pustular dermatosis of the scalp, typically appearing sooner and affecting the scalp more extensively compared to other triggers.

This study examined 27 DRESS patients diagnosed in Thailand, identifying phenytoin, allopurinol, and nevirapine as common causes, with a 3.7% mortality rate and systemic corticosteroids being a common treatment.

A specific gene mutation (Y449H in K10) was found in a patient with severe skin disorder.

In this study, certain genetic variations in the ESR1 and ESR2 genes were strongly associated with polycystic ovary syndrome and related metabolic issues in Tunisian women.

This study suggests that dermal stem/progenitor cells can be enriched by intracellular granularity and display high proliferation and differentiation potential in vitro, distinguishing them from other fibroblasts and progenitors.

In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.

This study describes a case of epidermolysis bullosa simplex where maternal somatic and germline mosaicism was identified, highlighting the significance for genetic counseling in sporadic cases.

S-1 treatment led to a complete response in pancreatic cancer with manageable side effects.

This review discusses how research on keratin biology has enhanced the understanding of epidermolysis bullosa simplex and indicates potential new therapeutic approaches, but it presents no new experimental results.

This case report describes a 4-month-old boy with anhidrotic ectodermal dysplasia and immunodeficiency who showed minimal improvement with initial treatments but significant improvement after an umbilical cord blood transplantation.

This systematic review indicates that patients with Down syndrome have an increased prevalence of various dermatologic disorders, especially infectious, inflammatory, autoimmune, and connective tissue conditions.

This case study describes a 23-year-old woman with erosive pustular dermatosis of the scalp who later developed multiple sclerosis, suggesting a possible shared immunological etiology involving neutrophil hyperactivation.

This study identified a new heterozygous missense variant in CST6 associated with autosomal dominant keratosis follicularis spinulosa decalvans in an Austrian family, affecting epidermal differentiation and hair formation.

This study on Qatari patients with Woodhouse-Sakati syndrome highlights the high incidence and diverse clinical presentation due to a specific genetic variant, emphasizing early diagnosis for effective management.

A 4kb fragment of the desmocollin 3 promoter targets gene expression to specific skin and hair follicle areas.

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.

This introduction highlights that a common challenge with managing dandruff, a mild form of seborrheic dermatitis, is compliance with treatment, and notes that selenium disulfide shampoo is beneficial for this condition.

This article reports a case of erosive pustular dermatosis on the scalp of an elderly male, highlighting its complex diagnosis and successful treatment with high-potency topical corticosteroids.

This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.

This study describes the development of the EUSCLE Core Set Questionnaire for cutaneous lupus erythematosus, designed to standardize data collection, facilitate epidemiological analysis, and guide diagnostic and therapeutic strategies across European centers.

This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.

This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.

This case report describes a rare instance of a 23-year-old woman with both Epidermolysis Bullosa Acquisita and aggressive systemic lupus erythematosus, suggesting a potential immunogenetic link through HLA-DR2.

This study found that fatty acid desaturation regulated by SCD1 is crucial for hair growth by maintaining hair follicle stem cell niches, with its absence causing abnormal hair growth in mice.

This study used Cisd2 knockout mice models and found that these mice display premature aging characteristics and an increase in dysfunctional neutrophils, suggesting Cisd2's role in calcium homeostasis and neutrophil function via interactions with Calnexin and SERCA.

This study found that while Eda and Edar proteins interact in vitro, their roles in dental development differ, with downless mutant mice showing distinct tooth defects compared to tabby mutants.

This case study of a patient with a variant in the extracellular region of IL6ST suggests a potential expansion of the phenotypic spectrum for autosomal dominant hyper-IgE syndrome, warranting further investigation.

This study identified a novel pathogenic splice-site variant of the LAMB3 gene in patients with junctional epidermolysis bullosa, highlighting the importance of gene sequencing for diagnosis.

In this case report, a 38-year-old woman with Degos disease and non-scarring alopecia experienced significant hair regrowth with the current treatment protocol, highlighting its potential effectiveness in such complex conditions.