research Inherited Disorders of Corneocyte Proteins
Ichthyoses are genetic skin disorders that affect the skin's barrier function.
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research Does dry skin indicate defective epidermal permeability barrier?
Dry skin does not mean the skin's protective barrier is broken; it's often due to a lack of natural skin moisturizers.
research Keratin gene mutations in disorders of human skin and its appendages
Keratin gene mutations cause various skin and hair disorders, but new research offers hope for future treatments.
research Trichothiodystrophy
Trichothiodystrophy is a condition with brittle hair and various physical and mental issues due to low sulfur in proteins.
research A null mutation in the cystatin M/E gene of ichq mice causes juvenile lethality and defects in epidermal cornification
A gene mutation in mice causes skin defects and early death.
research Harlequin fetus with abnormal lamellar granules and giant mitochondria
Harlequin ichthyosis involves abnormal skin cell structures and giant mitochondria, affecting skin and hair.
research The skin landscape in diabetes mellitus. Focus on dermocosmetic management
Proper skin care and dermocosmetics improve skin issues in diabetes patients.
research Efficient In Vitro Transfection of Human Keratinocytes with an Adenovirus-Enhanced Receptor-Mediated System
The AVET system effectively delivers genes to human keratinocytes and may help treat skin diseases.
research Hair follicles modulate skin barrier function
Hair follicles play a crucial role in regulating skin barrier function.
research Biochemical examination of fetal skin biopsy specimens obtained by fetoscopy: Use of the method for analysis of keratins and filaggrin
Fetal skin biopsy can help diagnose protein-related disorders before birth.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Formation of the cornified envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research Diffuse plate-like sheets of desquamation
The rash resolved after stopping ponatinib.
research Contribution of Environmental Constituents in the Genomic Disruption of Cytokeratins
Environmental factors can cause mutations in skin proteins, leading to skin disorders.
research Porokeratotic adnexal ostial nevus: a paradigm of cutaneous mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Circle Hairs in a Patient with Multiple Myeloma
An elderly woman with cancer improved after treatment for a rare skin condition with coiled hairs.
research Ichthyosiform Erythroderma, a Multifaceted Syndromic Entity
A baby with KID syndrome died from infections and organ failure at 18 months old.
research Dynamics of Hair Follicle Morphogenesis and Skin Homeostasis
Hair follicle development involves specific cells and genes, crucial for understanding severe skin diseases like harlequin ichthyosis.
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.
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 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 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 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 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 From molecular biology to therapeutics
The document discusses various skin disorders and new therapeutic approaches.
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 Netherton Syndrome
Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
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.