research Primary idiopathic pseudopelade of brocq: Five case reports
Primary idiopathic pseudopelade of Brocq causes gradual, scarring hair loss with no effective treatment.
Search
for
Sort by
Research
420-450 / 1000+ resultsresearch BH10 Nailing the diagnosis
Consider amyloidosis in patients with specific nail changes and check for systemic issues.
research Neurotrichosis: Hair‐shaft Abnormalities associated with Neurological Diseases
Hair-shaft abnormalities can indicate neurological disorders, some of which are treatable.
research 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis
A patient with a new PLEC gene mutation showed symptoms of both muscular dystrophy and myasthenia gravis, which improved with steroid treatment.
research Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients
The study suggests that motor neurons created from stem cells of patients with spinal and bulbar muscular atrophy show signs of the disease, including changes in protein levels and cell functions.
research Rapunzel Syndrome as a Rare Presentation of Trichobezoar
A 16-year-old girl with a hair-eating disorder needed surgery to remove a hairball from her stomach and small bowel.
research [Analysis of human hair basic keratin 6 gene mutation in a Chinese Han family with monilethrix].
A gene mutation causes monilethrix in a Chinese family.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research The Charnoly body as a universal biomarker of cell injury
Charnoly bodies could be a marker for cell damage, and certain nutrients and proteins might prevent them, potentially helping with brain diseases and cancer.
research African Trypanosoma infection in a dog in France
A dog in France died from an African parasite infection after traveling from Senegal.
research Localized Scleroderma morphea-like in a cat.
The cat's skin condition was resistant to treatment and did not improve.
research A Spontaneous Deletion within the Desmoglein 3 Extracellular Domain of Mice Results in Hypomorphic Protein Expression, Immunodeficiency, and a Wasting Disease Phenotype
A gene deletion in mice causes weak protein, immune issues, hair loss, airway problems, and wasting disease.
research Interventions for morphea
Some treatments like methotrexate with prednisone might help juvenile morphea, but more research is needed to confirm.
research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
research Painful thickened skin on the soles of the feet
The man has a genetic skin condition called pachyonychia congenita.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family
A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
research Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
LIPH mutations in Japan cause varying degrees of hair loss and woolly hair.
research Giant Morpheaform Basal Cell Carcinoma Mimicking Scarring Alopecia: Exception Prone to Neglect
A rare type of skin cancer on the scalp can be mistaken for hair loss, causing delayed diagnosis and severe damage.
research Metreleptin Treatment in a Boy with Congenital Generalized Lipodystrophy due to Homozygous c.465_468delGACT (p.T156Rfs*8) Mutation in the BSCL2 Gene: Results From the First-year
Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
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.
research Scd1 ab-Xyk : a new asebia allele characterized by a CCC trinucleotide insertion in exon 5 of the stearoyl-CoA desaturase 1 gene in mouse
A new mouse mutation causes skin and hair defects due to a gene change.
research A Case of IFAP Syndrome with Severe Atopic Dermatitis
A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
research Follicular Mycosis Fungoides: Variability of a Rare Entity
FMF and mycosis fungoides are variants of the same disease, and bexarotene can be an effective treatment.
research Hair Loss Disease
research Mutations in ABCB6 Cause Dyschromatosis Universalis Hereditaria
Mutations in the ABCB6 gene cause Dyschromatosis Universalis Hereditaria.
research This Month in the Journal
The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
research Clinical, histological and immunophenotypic findings in a mare with a mammary lymphoma associated with anaemia and pruritus
A mare had severe symptoms and died from a large lymphoma.
research Abstracts from the 55th European Society of Human Genetics (ESHG) 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 Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.