research Dermatomyositis Disease in Dogs
Dogs with dermatomyositis, especially Collies and Shetland Sheepdogs, need better treatments for their skin and muscle inflammation.
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30-60 / 1000+ results research Rapp-Hodgkin Syndrome: A Review of Hair and Hair Color Aspects
Rapp-Hodgkin syndrome, AEC, and EEC are different expressions of the same genetic disorder caused by TP63 gene mutations.
research Keratosis Follicularis Spinulosa Decalvans in a Family
KFSD is a genetic disorder causing hair loss and skin issues, with no effective treatment.
research Monilethrix: A Case Report Imaged by Trichoscopy, Reflectance Confocal Microscopy, and Histopathology
Advanced imaging techniques are crucial for accurately diagnosing Monilethrix, a rare hair disorder.
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 Clinical Findings, Cutaneous Pathology, and Response to Therapy in 21 Patients With Keratosis Pilaris Atrophicans
The study found that Keratosis Pilaris Atrophicans is a genetic skin condition that starts in childhood, involves inflammation and scarring, and current treatments are only somewhat effective.
research Whole Genome Sequencing Analysis of Alpaca Suggests TRPV3 as a Candidate Gene for the Suri Phenotype
The TRPV3 gene variant may cause the long-haired suri alpaca coat.
research New Case of Trichorhinophalangeal Syndrome-Like Phenotype with a De Novo t(2;8)(p16.1;q23.3) Translocation Which Does Not Disrupt the TRPS1 Gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research Dermoscopy: A Rapid Bedside Tool to Assess Monilethrix
Dermoscopy quickly and accurately diagnosed a rare hair disorder in a 12-year-old girl.
research Hair Shaft Structures in EDAR Induced Ectodermal Dysplasia
The EDAR gene mutation leads to thinner and more deformed hair shafts.
research Loose Anagen Hair Syndrome in Black-Haired Indian Children
Loose Anagen Hair Syndrome is found in black-haired Indian children and is often missed, especially in boys.
research The Genetics of Androgenetic Alopecia
Genes and hormones cause hair loss, with four genes contributing equally.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Acromegaloid Facial Appearance: Case Report and Literature Review
The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
research Crystalline Cataract and Uncombable Hair Syndrome in a 7-Year-Old Girl
The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
research A New Locus for Hereditary Hypotrichosis Simplex Maps to Chromosome 13q12.12-12.3 in a Chinese Family
A new genetic area linked to a rare hair loss condition was found on chromosome 13 in a Chinese family.
research Steroidogenic Factor-1 Lineage Origin of Skin Lesions in Carney Complex Syndrome
Skin lesions in Carney Complex are caused by a gene change in some skin cells that leads to increased pigmentation and may lead to tumors.
research Androgenetic Alopecia: An Update
Two drugs, finasteride and minoxidil, are approved for hair loss treatment, but new therapies are being developed.
research Dermatopathia Pigmentosa Reticularis: A Rare Reticulate Pigmentary Disorder
Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
research Generalized Asymptomatic Cutaneous Pits and Comedones in a Young Woman
The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.
research Reversal of Androgenetic Alopecia in a Male: A Spironolactone Effect?
A man's baldness improved possibly due to a medication that blocks male hormones.
research A Randomized Double-Blind Study of the Effect of Finasteride on Hair Growth in Male Patients of Androgenetic Alopecia
research Generalized Multiple Eruptive Milia in an Infant: An Unusual Presentation
A baby had a rare case of widespread milia, which was treated and is being monitored.
research A Novel Connexin 26 Mutation in a Patient Diagnosed with Keratitis–Ichthyosis–Deafness Syndrome
A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
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 Efficacy and Safety of Glucocorticoids in the Treatment of Progressive Muscular Dystrophy in Children: A Systematic Review and Meta-Analysis
Glucocorticoids for progressive muscular dystrophy in children don't improve muscle strength or function but do increase certain side effects.
research Myotonic Dystrophy Type 1: Enhancing Patient Management Through Genetic and Multisystem Studies
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research CME Examination for Volume 43
The exam tested knowledge on various skin-related topics for CME credit.
research Congenital Atrichia and Hypotrichosis
The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.