research A Case of Trichorhinophalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
A new genetic mutation in the TRPS1 gene causes Trichorhinophalangeal Syndrome, leading to specific hair, dental, and bone issues.
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390-420 / 1000+ resultsresearch The existence of a linear system consisting of sympathetic endings in rat skin
Rat skin has a linear system of nerve fibers linked to hair follicles and muscles.
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research Efficacy and tolerability of azathioprine for neuromyelitis optica spectrum disorder: A systematic review and meta-analysis
Azathioprine can help with relapses and disability in NMOSD but has more side effects and needs more research.
research Lesions in the skin, intestine, and central nervous system induced by an antimetabolite of niacin.
Injecting newborn mice with a niacin blocker caused skin, gut, and brain damage similar to human pellagra.
research Case of alopecia areata accompanied by polymyalgia rheumatica
Alopecia areata and polymyalgia rheumatica may be linked autoimmune conditions.
research Gain‐of‐function variants in the ODC1 gene cause a syndromic neurodevelopmental disorder associated with macrocephaly, alopecia, dysmorphic features, and neuroimaging abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research 169 Clinical features, etiologic factors, treatment, and comorbidities of palmoplantar pustulosis: a retrospective single-center study
Smoking and certain health conditions like thyroid disease may make palmoplantar pustulosis harder to treat.
research Steroidogenic factor-1 lineage origin of skin lesions in Carney complex syndrome
Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research Peter Kynaston Thomas, 28 June 1926–25 January 2008
Professor P. K. Thomas was a pioneering neurologist who advanced the study of peripheral nerves and neuropathies.
research Description of clinical aspects and microscopy of the hair shaft of a carrier of familial monilethrix
Monilethrix causes brittle hair and hair loss, and it runs in families.
research Autoimmune polyglandular syndrome type 2, alopecia universalis and Crohn's disease
Managing multiple autoimmune diseases in one patient is extremely challenging.
research Trichodynia Revisited
Trichodynia is a painful scalp condition not directly linked to the amount or type of hair loss and may involve psychological factors, with treatments showing mixed results.
research Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease
Researchers found two new genetic variants linked to Alzheimer's disease.
research Pseudoglucagonoma Syndrome Following Frey’s Surgery: A Case Report of a Rare Presentation
Improved nutrition quickly healed the patient's skin lesions.
research Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
PSENEN gene mutations can cause both Dowling-Degos disease and acne inversa.
research TRPA1 Modulates Mechanotransduction in Cutaneous Sensory Neurons
TRPA1 is crucial for mechanical sensitivity in skin sensory neurons.
research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research Multiple basal cell carcinomas in a patient with myotonic dystrophy type 1
A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
research Synaptic processes and immune-related pathways implicated in Tourette syndrome
The research suggests that Tourette syndrome is linked to both brain signaling and immune system pathways.
research Trichorrhexis nodosa. Clinical and investigative studies
Trichorrhexis nodosa is mainly caused by hair trauma, not a metabolic defect.
research Extrapulmonary manifestations of coronavirus disease (COVID-19): current status (a literature review)
COVID-19 affects many body systems, causing a wide range of symptoms and complications.
research The Multisystem Impact of Long COVID: A Comprehensive Review
Long COVID causes a wide range of long-lasting symptoms that change over time and are hard to diagnose and treat.
research Three-dimensional microanatomy of mechanoreceptors and their possible mechanism of sensory transduction.
Mechanoreceptors convert physical touch into electrical signals through specialized nerve structures.
research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Stem Cells and Peripheral Nerve
Stem cells show promise for nerve injury treatment, but more research is needed before human use.
research Hair abnormalities and neurological disease
Hair changes could indicate neurological diseases and help monitor treatment.
research Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases
H1 increases risk for neurodegenerative diseases, while H2 offers protection but is linked to other disorders.