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      research Harlequin fetus with abnormal lamellar granules and giant mitochondria

      34 citations , June 1992 in “Journal of Cutaneous Pathology”
      In this case study, electron microscopy revealed that harlequin ichthyosis involves giant mitochondria in keratinocytes and abnormal lamellar granule development, which may contribute to pathogenesis through altered lipid metabolism.

      research The skin landscape in diabetes mellitus. Focus on dermocosmetic management

      31 citations , May 2013 in “Clinical Cosmetic and Investigational Dermatology”
      This review discusses dermocosmetic care for managing DM-related dermatoses, reporting improved skin conditions and quality of life in patients, but highlights limited clinical evidence for these products.

      research Hair follicles modulate skin barrier function

      9 citations , June 2024 in “Cell Reports”
      This study found that hair follicles play a significant role in regulating skin barrier function, with disruptions in the upper hair follicle affecting the epidermis, influencing processes like desquamation and sebum release, and leading to cell movement into the epidermis.

      research A Case of IFAP Syndrome with Severe Atopic Dermatitis

      5 citations , January 2015 in “Case reports in medicine”
      In this case report, a novel missense mutation c.1360G>C (p.Ala454Pro) in the MBTPS2 gene was identified in a boy with typical IFAP syndrome and severe atopic features, although no phenotype/genotype correlation was established.
      Formation of the Cornified Envelope

      research Formation of the cornified envelope

      3 citations , September 2005 in “Experimental dermatology”
      This review discusses the formation and structure of the cornified cell envelope in the epidermis, highlighting biochemical pathways and genetic factors, but presents no new experimental results.

      research Diffuse plate-like sheets of desquamation

      2 citations , January 2022 in “JAAD Case Reports”
      This case report describes a 69-year-old woman who developed drug-induced acquired ichthyosis related to ponatinib therapy, which improved upon stopping the medication.
      Trichoscopy in Unveiling the Triad of Netherton Syndrome

      research Trichoscopy in Unveiling the Triad of Netherton Syndrome

      January 2025 in “Clinical Dermatology Review”
      In this case report, a 16-year-old female with Netherton syndrome, a rare genetic disorder, exhibited symptoms such as skin issues, hair abnormalities, and elevated serum IgE levels. The diagnosis was supported by skin biopsy, and treatment included topical therapies, NB-UVB, and infliximab.

      research Circle Hairs in a Patient with Multiple Myeloma

      November 2021 in “Clinical, cosmetic and investigational dermatology”
      This case report details an 80-year-old woman with circle hair potentially linked to acquired ichthyosis from multiple myeloma, where a prescribed topical treatment led to clinical improvement.

      research Dynamics of Hair Follicle Morphogenesis and Skin Homeostasis

      October 2018 in “Deep Blue (University of Michigan)”
      This study found that matrix progenitor cell differentiation in hair growth has distinct early and late phases, and generated a mouse model to explore the hair follicle's role in harlequin ichthyosis.
      Skin, Genetic Defects, and Aging

      research Skin, Genetic Defects, and Aging

      January 2016 in “SpringerBriefs in bioengineering”
      This article discusses the structure and function of the skin's epidermis, detailing its role as a protective barrier and nutrient exchange system, without presenting new research findings.
      Clinical Snippets: Melanoma Risk Prediction, Monilethrix Mutation, Keratitis-Ichthyosis-Deafness Syndrome, Skin Wrinkling and Lung Aging, Oxidative Stress in Androgenetic Alopecia

      research Clinical Snippets

      May 2015 in “Journal of Investigative Dermatology”
      Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
      Keratin and Skin Disorders

      research KERATINS AND SKIN DISORDERS

      28 citations , April 1996 in “Cell biology international”
      This review discusses changes in keratin structure or gene expression that result in various skin disorders and reports no new clinical findings.
      Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition

      research Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition

      451 citations , March 2005 in “Endocrine Reviews”
      This paper discusses the role of steroid sulfatase in hormone-dependent tumors and highlights the development of potent inhibitors, noting the commencement of a phase I trial for one inhibitor in postmenopausal breast cancer patients.
      Roles of Steroid Sulfatase in Brain and Other Tissues

      research Roles of steroid sulfatase in brain and other tissues

      22 citations , January 2008 in “Physiological Research”
      This review discusses the role of steroid sulfatase in steroid hormone metabolism and highlights the need for more research on its expression and regulation, especially regarding hormone-dependent tumors.

      research New clinico‐genetic classification of trichothiodystrophy

      68 citations , August 2009 in “American Journal of Medical Genetics Part A”
      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 Case Report of Wound Treatment with Hyiodine Gel in an Occasional KID Syndrome Patient

      December 2025 in “Journal of Clinical Medicine”
      In this case study, the researchers reported that surgical debridement combined with targeted dermatological and antimicrobial therapy effectively managed chronic lower-limb wounds in a patient with keratitis-ichthyosis-deafness syndrome, underscoring the importance of a multidisciplinary approach in treating this rare condition.

      research Netherton Syndrome Associated with Growth Hormone Deficiency

      21 citations , September 2013 in “Pediatric Dermatology”
      This case report describes three patients with Netherton syndrome who experienced growth hormone deficiency and improved growth rates following growth hormone therapy.

      research Combination of Netherton Syndrome and Hypopituitarism with Isolated Somatotropin Deficiency: Case Study

      November 2025 in “Вопросы современной педиатрии”
      In this case report, the researchers observed that combining growth hormone therapy with the biologic drug dupilumab effectively improved growth and health outcomes in a patient with Netherton syndrome and comorbid hypopituitarism, suggesting a multidisciplinary approach may be beneficial for managing such cases.

      research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)

      22 citations , September 2003 in “Journal of Investigative Dermatology”
      This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.

      research From molecular biology to therapeutics

      7 citations , June 1994 in “International journal of biochemistry/International Journal of Biochemistry”
      This review explores various topics related to skin diseases, hormones, receptors, growth factors, and therapeutic approaches, but it provides no new research findings.