research British Society for Paediatric Dermatology Annual Meeting, Sheffield, 18-19 November 2016
The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
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210-240 / 1000+ results research A polarizing light microscopy can be an easy and reliable diagnostic tool of congenital keratinizing disorders including Netherton syndrome
Polarizing light microscopy can easily and reliably diagnose congenital keratinizing disorders like Netherton syndrome.
research Skin, Genetic Defects, and Aging
Genetic defects and UV radiation cause skin damage and aging.
research Clinical Snippets
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.
research Roles of steroid sulfatase in brain and other tissues
Steroid sulfatase is important for activating hormones that affect memory, brain function, and certain diseases, and could be a target for treating hormone-related disorders.
research Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Mutations in NIPAL4 cause skin issues by disrupting lipid layers, but some improvement is seen with topical treatment.
research Steroid Sulfatase: Molecular Biology, Regulation, and Inhibition
The enzyme steroid sulfatase is linked to breast cancer and other conditions, and inhibitors are being developed for treatment.
research Human stratum corneum proteomics reveals cross‐linking of a broad spectrum of proteins in cornified envelopes
A wide range of proteins are integrated into the skin's protective layer.
research Genetic Mapping Of Hereditary Ectodermal Dysplasias And Hair Loss Genes
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
research Netherton Syndrome Associated with Growth Hormone Deficiency
Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
research Combination of Netherton Syndrome and Hypopituitarism with Isolated Somatotropin Deficiency: Case Study
Treating Netherton syndrome with growth hormone and dupilumab improves growth safely.
research From molecular biology to therapeutics
The document discusses various skin disorders and new therapeutic approaches.
research Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
New mutations in the EBP gene cause CDPX2, affecting bones, skin, eyes, and hair, with females generally less affected than males.
research Manifest hair repigmentation associated with etretinate therapy
An 82-year-old man's white hair regained color after taking etretinate for psoriasis.
research Oral retinoids-present status
Oral retinoids are effective for various skin conditions but have side effects and should not be used during pregnancy.
research Further Insights in Trichothiodistrophy: A Clinical, Microscopic, and Ultrastructural Study of 20 Cases and Literature Review
TTD symptoms vary widely, requiring thorough evaluations.
research Viva questions from the IJDVL
The document concludes that various skin conditions have specific characteristics and treatments, and highlights the importance of vitamin D in managing these dermatological issues.
research Lanceolate hair-J (lahJ ): A mouse model for human hair disorders
The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research 075 Clinical investigation of JAK inhibitor Tofacitinib in scarring alopecias
Tofacitinib may slow hair loss in scarring alopecias but is unlikely to regrow significant hair.
research 851 The role of astrotactin2 in regulating mammalian skin polarity
Astrotactin2 affects hair follicle orientation and skin cell polarity.
research Skin: Basic Structure and Function
The skin is a complex barrier that protects the body, regulates temperature, and helps with immune responses.
research Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome
Netherton Syndrome can cause severe skin lesions in rare cases.
research Ashy Dermatosis
Ashy dermatosis may be linked to atopy and thyroid disease and can be treated with topical steroids.
research Subcutaneous emphysema resulting from liquid nitrogen spray
Liquid nitrogen spray caused a temporary, harmless swelling under the skin in an elderly woman.
research Male fertility and skin diseases
Some skin diseases and their treatments can negatively affect male fertility.
research Genetics of Structural Hair Disorders
The document concludes that over 500 genes are linked to hair disorders and this knowledge is important for creating new treatments.
research Topical tacalcitol ointment can be a good therapeutic choice in erythromelanosis follicularis faciei et colli
Topical tacalcitol ointment can help improve symptoms of EFFC.
research Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75
Using special RNA to target a mutant gene fixed hair problems in mice.
research Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control
Dupilumab effectively controls symptoms in infants with Netherton syndrome.