research Monilethrix – Case report of a rare disease
Monilethrix causes fragile, patchy hair loss.
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450-480 / 1000+ resultsresearch Chronic inflammatory demyelinating polyneuropathy associated with alopecia totalis and Sjögren syndrome
Recognizing the link between certain autoimmune disorders and neurological conditions can improve diagnosis and treatment.
research PA05 A rare case of cardiocutaneous syndrome in a young child
A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
research Monilethrix: Beaded hair and hypotrichosis in a child
A 9-year-old girl has a rare hair disorder causing beaded, sparse hair.
research An ERK-dependent molecular switch antagonizes fibrosis and promotes regeneration in spiny mice (Acomys)
A specific molecular switch, driven by MAPK/ERK signaling, helps spiny mice heal wounds by regenerating skin instead of forming scars.
research Decision letter: Smad4 restricts differentiation to promote expansion of satellite cell derived progenitors during skeletal muscle regeneration
Smad4 is crucial for muscle repair, especially in aging, by promoting cell growth over differentiation.
research Clinical and Histologic Features of 64 Cases of Steatocystoma Multiplex
Steatocystoma multiplex is a skin condition starting around age 26, linked to hair follicles, and related to eruptive vellus hair cysts.
research ИССЛЕДОВАНИЕ ФИЗИЧЕСКОГО СОСТОЯНИЯ МЫШЦ ДЕТЕЙ, ИМЕЮЩИХ ОТКЛОНЕНИЯ В СОСТОЯНИИ ЗДОРОВЬЯ В УСЛОВИЯХ ЦЕНТРА СОЦИАЛЬНОЙ ОБСЛУЖИВАНИЯ
Functional tests and manual muscle testing effectively assess muscle performance in children with health issues.
research Independent DSG4 frameshift variants in cats with hair shaft dystrophy
Cats with abnormal hair had DSG4 gene changes causing hair problems.
research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research Protein kinase C is a key target for attenuation of Leigh syndrome by rapamycin
Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
research Abstracts
The document reports findings on genetic research, including ethical concerns about genome editing, improved diagnosis of mitochondrial mutations, solving inherited eye diseases, confirming gene roles in epilepsy, linking a gene to aneurysms, and identifying genes associated with age-related macular degeneration.
research A Study of the Expression of Small Conductance Calcium-Activated Potassium Channels (SK1-3) in Sensory Endings of Muscle Spindles and Lanceolate Endings of Hair Follicles in the Rat
SK2 channels help control sensory signals in rat muscle spindles and hair follicles.
research Autosomal recessive monilethrix: Novel variants of the DSG4 gene in three Chinese families
New gene variants linked to a rare inherited hair loss disorder were found in three Chinese families.
research Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
research Follicular ichthyosis
The four patients have a unique type of ichthyosis affecting hair follicles.
research Diagnostic Exercise: Severe Bilaterally Symmetrical Alopecia in a Horse
A horse with severe hair loss was diagnosed with alopecia areata and a yeast infection.
research Myocyte Androgen Receptor Modulates Body Composition and Metabolic Parameters
Activating androgen receptors in muscle can increase muscle mass and reduce fat.
research Introduction to Toxins Special Issue on Botulinum Toxins: New Uses in the Treatment of Diseases (2nd Edition)
Botulinum toxins show promise in treating various conditions, but more research is needed for hair and scalp disorders.
research Joint Public Review: Touch receptor end-organ innervation and function require sensory neuron expression of the transcription factor Meis2
Meis2 is essential for touch sensation and nerve function in mice.
research Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome
IFAP syndrome is a rare genetic disorder causing skin, hair, and eye issues, with limited treatment options.
research The non-neuronal and nonmuscular effects of botulinum toxin: an opportunity for a deadly molecule to treat disease in the skin and beyond
Botulinum toxin has potential for treating various skin conditions and improving wound healing.
research Genetic ablation of myelin protein zero-like 3 in mice increases energy expenditure, improves glycemic control, and reduces hepatic lipid synthesis
Removing myelin protein zero-like 3 in mice leads to better metabolism and resistance to obesity.
research More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
Monilethrix involves multiple genes affecting hair structure, including DSG4 mutations.
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research British Society for Dermatopathology: Summaries of Papers
Some skin conditions are associated with other serious diseases, and office microscopy may miss many fungal infections.
research Homozygous ALOXE3 Nonsense Variant Identified in a Patient with Non-Bullous Congenital Ichthyosiform Erythroderma Complicated by Superimposed Bullous Majocchi’s Granuloma: The Consequences of Skin Barrier Dysfunction
A specific gene variant causes severe skin issues and increases infection risk, requiring careful medical monitoring.
research Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
research Conventional histopathology and new technologies in cutaneous mucinoses: Old diagnostic criteria and new therapeutic perspectives
New technologies show potential for better understanding and treating skin conditions with abnormal mucin, but more research is needed for clinical use.