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research Cellular Senescence and Aging in Myotonic Dystrophy
This review discusses the similarities between myotonic dystrophy and aging, highlighting the role of cellular senescence in its pathophysiology, and reports no new clinical findings; the authors note potential anti-aging therapy applications.
research Mice lacking desmocollin 1 show epidermal fragility accompanied by barrier defects and abnormal differentiation
This study found that desmocollin 1 is crucial for strong adhesion and barrier maintenance in the mouse epidermis, with its absence leading to skin and hair issues resembling chronic dermatitis.
research Vitamin D receptor ablation alters skin architecture and homeostasis of dendritic epidermal T cells
This study found that VDR deficiency in mice leads to various skin pathologies but does not affect the phenotype or function of Langerhans cells.
research Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development
In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.
research A comedonal variant of chronic cutaneous lupus erythematosus: Case report and literature review
This narrative review discusses the presentation and progression of discoid lupus erythematosus in chronic cutaneous lupus erythematosus and does not report new research findings.
research VITAMIN D DEPENDENT RICKETS TYPE II (VDR-11). RESPONSE TO PROLONGED THERAPY WITH NOCTURNAL CALCIUM INFUSIONS
This case report details a severe instance of VDR-II where intravenous calcium infusions, administered nightly, successfully improved clinical, radiological, and biochemical signs of rickets without alopecia despite ineffective calcitriol therapy.
research Novel small molecules downregulate CDK1 expression and inhibit Wnt/β-catenin signaling in cutaneous squamous cell carcinoma by targeting its distinct tumor-specific cellular landscape
This study observed that the small molecules KY19382 and KY19334 inhibited cancerous traits in human cutaneous squamous cell carcinoma cells by suppressing the Wnt/β-catenin pathway, indicating their potential as treatments for cancers involving CDK1 overexpression and diseases related to CXXC5 accumulation.
research Adsorption and Elution of Cadmium on Hair
This study found that cadmium adsorption on human hair varies significantly between individuals, likely due to differences in hair acidity, and nearly complete removal can be achieved with strong acid solutions.
research 519 Phase I/IIa clinical trial for recessive dystrophic epidermolysis bullosa using genetically corrected autologous keratinocytes
This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
research Use of diphenylcyclopropenone for alopecia areata treatment during pregnancy
This article reviews DPCP's use as a topical immunotherapy for alopecia areata and discusses its suggested mechanism, but reports no clinical results.
research Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1
This report highlights a case of possible association between myotonic dystrophy type 1 and basal cell carcinoma, urging clinicians to consider this link despite negative genetic testing for known hereditary BCC syndromes.
research Early Onset of Central Centrifugal Cicatricial Alopecia (CCCA) in Pediatric Patients: An Underrecognized Diagnosis
This study identified CCCA in 10 children of African descent, highlighting the occurrence of this scarring alopecia in patients under 18 and the importance of early diagnosis for better outcomes.
research Patchy presentation of central centrifugal cicatricial alopecia
This case report highlights that CCCA can present with multifocal patchy hair loss in younger men of African descent, suggesting the need for careful evaluation when diagnosing atypical alopecia patterns.
research APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
research Role of Stearoyl-CoA Desaturase-1 in Skin Integrity and Whole Body Energy Balance
This review discusses the role of the enzyme Δ9-desaturase-1 in skin lipid regulation and whole-body energy balance in mice and reports no new experimental results.
research Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia resulting from a novel missense mutation in the DNA-binding domain of the vitamin D receptor
This study identified a novel V26M mutation in the vitamin D receptor as the cause of hereditary vitamin D resistant rickets in a patient, characterized by severe rickets and an unusual pattern of alopecia.
research Woodhouse-Sakati Syndrome: The New Genetic Variant of DCAF17 In 2 Adult Sisters
This report highlights a new genetic variant of Woodhouse-Sakati syndrome in two sisters from the first identified family case in Russia, emphasizing the varied manifestations of the disorder and the importance of genetic testing for diagnosis and patient-specific treatment planning.
research New clinico‐genetic classification of trichothiodystrophy
This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
research Contents Vol. 240, 2024
research CME examination for volume 43
The exam tested knowledge on various skin-related topics for CME credit.
research Primary Follicular Dystrophy With Scarring Dermatitis in C57BL/6 Mouse Substrains Resembles Central Centrifugal Cicatricial Alopecia in Humans
This study found that certain C57BL/6 mouse substrains have a genetic vulnerability to skin lesions resembling central centrifugal cicatrical alopecia in humans, potentially worsened by high vitamin A levels.
research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.
research The Columbia Manual of Dermatologic Cosmetic Surgery
This paper is a compilation of chapters discussing various aspects of cosmetic dermatology and surgery but reports no new clinical results.
research Diaminodiphenyl Sulfone-Induced Hemolytic Anemia and Alopecia in a Case of Linear IgA Bullous Dermatosis
In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.
research Adverse Systemic Reaction to Dinitrochlorobenzene
This letter to the editor shares concerns about possible systemic effects from topical dinitrochlorobenzene therapy in a 25-year-old man treating alopecia areata.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.
research Alopecia por diluição da cor em uma cadela Staffordshire Bull Terrier azul: Relato de caso
This case study described a Staffordshire Bull Terrier diagnosed with alopecia by color dilution, characterized by gradual hair loss and confirmed through clinical examination and histopathology.
research Alopecia induced by CDK 4/6 Inhibitors and its Impact on the Quality of Life of Patients with advanced Breast cancer
This study found that 49% of female breast cancer patients treated with CDK4/6 inhibitors for at least three months developed alopecia, which significantly impacted their quality of life, with greater alopecia severity leading to worse emotional and functional well-being.
research Expanding on the phenotypic spectrum of Woodhouse‐Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review
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.