research Porokeratotic Eccrine Ostial And Dermal Duct Nevus: A Noteworthy Presentation
PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
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60-90 / 101 resultsresearch Porokeratotic Eccrine Ostial And Dermal Duct Nevus And Porokeratotic Eccrine And Hair Follicle Nevus: Is Nomenclature 'Porokeratotic Adnexal Ostial Nevus' More Appropriate?
The term "Porokeratotic Adnexal Ostial Nevus" is suggested as a more appropriate name.
research Cardiovascular Features in Adult Individuals Affected with Tatton-Brown-Rahman Syndrome
Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
research Porokeratotic Adnexal Ostial Nevus: A Paradigm of Cutaneous Mosaicism
PAON shows skin patterns due to genetic mosaicism.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Lysophospholipid Mediators in Health and Disease
Lysophospholipids like LPA and S1P are important for hair growth, immune responses, and vascular development, and could be targeted for treating diseases.
research The Noggin Null Mouse Phenotype Is Strain Dependent and Haploinsufficiency Leads to Skeletal Defects
Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
research Molecular Genetics of the PI3K-AKT-mTOR Pathway in Genodermatoses: Diagnostic Implications and Treatment Opportunities
The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
research Expanding Phenotype of Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis Caused by FAM111B Mutations: Report of an Additional Family Raising the Question of Cancer Predisposition and a Short Review of Early-Onset Poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research The Importance of Basonuclin 2 in Adult Mice and Its Relation to Basonuclin 1
Basonuclin 2 is vital for the development of facial bones, hair follicles, and male germ cells in adult mice, and its absence can lead to dwarfism and abnormal follicles.
research Alopecia Areata as a Paraneoplastic Syndrome of Hodgkin’s Lymphoma: A Case Report
Alopecia areata can be an early sign of Hodgkin’s lymphoma and may improve with lymphoma treatment.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research Faun Tail Nevus: A Series of 15 Cases and Their Management with Intense Pulse Light
Intense Pulse Light effectively reduces hair growth in faun tail nevus.
research Endocrine Abnormalities in Ring Chromosome 11: A Case Report and Review of the Literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
research Matricellular Proteins in the Homeostasis, Regeneration, and Aging of Skin
Special proteins are important for skin balance, healing, and aging, and affect skin stem cells.
research Serum Levels of VWF, t-PA, TNF-α, and ICAM-1 in Patients Receiving Hemocoagulase Combined with Platelet-Rich Plasma During Total Hip Replacement
Using hemocoagulase with platelet-rich plasma in hip replacement can lessen blood loss and improve healing and blood clotting.
research Alopecia Totalis Successfully Treated with Modified Platelet-Rich Plasma Therapy in a Patient Recalcitrant to Traditional Treatment Modalities
Modified PRP therapy successfully treated severe alopecia unresponsive to traditional methods.
research Mediator 1 Ablation Induces Enamel-to-Hair Lineage Conversion in Mice Through Enhancer Dynamics
Removing Mediator 1 from certain mouse cells causes teeth to grow hair instead of enamel.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants
The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.
research Hair Loss Severity and Its Impact on Quality of Life in Patients Suffering from Androgenic Alopecia: A One-Year Cross-Sectional Study
Severe hair loss significantly worsens quality of life.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Twins With Psychiatric Features and a Nonsense HRAS Variant Affecting Transcript Processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Bachmann–Bupp Syndrome and Treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 and Non-Ossifying Fibroma in Femur: A Case Report
A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.
research Growth Hormone Deficiency with Late-Onset Hypothalamic Hypoadrenocorticism Associated with Respiratory and Renal Dysfunction: A Case Report
A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
research A Syndrome of Congenital Ichthyosis, Mental Retardation, Myopathy, and Anemia in Dizygotic Twin Sisters
The twins' condition is unique and doesn't match any known syndromes.
research Scabiosis by Sarcoptes Scabiei and Notoedres Cati in Domestic Cats
Proper treatment and sanitation can cure and prevent scabiosis in domestic cats.
research Scabiosis and Toxocariasis in a Local Dog
The dog recovered well after treatment, showing no skin issues and normal hair growth.
research Sulfur Treatment for Scabiosis in Local Puppy
Sulfur-based treatments combined with simparica effectively treat scabies in puppies.