research Neonatal Ichthyosis and Sclerosing Cholangitis Syndrome
NISCH syndrome is a rare genetic disorder affecting skin and liver, with variable symptoms and limited treatment options.
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30 / 1000+ resultsresearch Neonatal ichthyosis-sclerosing cholangitis syndrome caused by a novel CLDN1 mutation: a case report and literature review
A novel CLDN1 mutation in a 2-month-old with NISCH showed improvement with symptom management.
research Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report
Early diagnosis and teamwork are crucial for managing ILVASC effectively.
research The Fate of Epidermal Tight Junctions in the stratum corneum: Their Involvement in the Regulation of Desquamation and Phenotypic Expression of Certain Skin Conditions
Tight junctions help control skin shedding and may be targets for treating certain skin conditions.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Formation of the cornified envelope
The cornified envelope is crucial for skin's barrier function and involves key proteins and genetic factors.
research A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
research Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research The role of tight junctions in skin barrier function and dermal absorption
Tight junctions are key for skin protection and controlling what gets absorbed or passes through the skin.
research To grow or not to grow: Hair morphogenesis and human genetic hair disorders
Genetic mutations can cause hair growth disorders by affecting key genes and signaling pathways.
research Tight Junction barriers in human hair follicles – role of claudin-1
Claudin-1 is important for the barrier function and growth of hair.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Epidermis-specific ablation of claudin-1 in adult mice demonstrates the essential role of a tight junction barrier in skin homeostasis
Claudin-1 is crucial for maintaining skin barrier and preventing inflammation.
research ИХТИОЗ АРЛЕКИНО: КЛИНИЧЕСКИЙ СЛУЧАЙ
A newborn with ichthyosis was successfully treated using specific neonatal care methods.
research Trichothiodystrophy with Dysmyelination and Central Osteosclerosis
Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
research Hot topics in pediatric dermatology
Covers common skin issues in kids, their diagnosis, treatment, and need for specialist care.
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 Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research The Skin at Different Ages
Skin changes throughout life, from development before birth to aging effects like wrinkles, influenced by both genetics and environment.
research Skin signs of systemic diseases
Looking at skin can help find and treat serious diseases early.
research ИСПОЛЬЗОВАНИЕ ПОЛИНУКЛЕОТИДОВ В АНТИВОЗРАСТНОЙ ИНЪЕКЦИОННОЙ КОСМЕТОЛОГИИ С ПОЗИЦИИ ДОКАЗАТЕЛЬНОЙ МЕДИЦИНЫ
Polynucleotide-based treatments effectively reduce aging signs and aid tissue recovery.
research РОЛЬ ДЕРМАТОФИТОВ В ФОРМИРОВАНИИ СЕНСИБИЛИЗАЦИИ ОРГАНИЗМА
Dermatophytes, like Trichophyton rubrum, can cause allergies and chronic inflammation.
research РЕЗУЛЬТАТЫ БИОПОВЕДЕНЧЕСКОГО ИССЛЕДОВАНИЯ СРЕДИ СЕКС-РАБОТНИКОВ ГОРОДА КОСТАНАЙ В 2024 ГОДУ
Expand access to prevention and address barriers for sex workers in Kostanay.
research Index
The document is a detailed guide on skin conditions and treatments for dermatologists.
research General Dermatology
The document explains various skin conditions and their treatments.
research Office Diagnosis of Hair Shaft Defects
The document explains how to identify different hair problems using a microscope.
research Spectrum of Paediatric Dermatoses in a Private Medical College
Skin infections and rashes are the most common skin problems in children.
research Clinical and molecular genetic studies in hereditary hair loss
Researchers found a genetic link for hereditary hair loss but need more analysis to identify the exact gene.