research PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
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390-420 / 1000+ results research Modulating mechanosensory afferent excitability by an atypical mG luR
A compound named ZCZ90 can increase muscle spindle firing, potentially helping treat muscle spasms and hypertension.
research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
research Case 4-2012
Early diagnosis and treatment of TPP can prevent complications.
research Wide range applications of botulinum toxin in medicine - literature review
Botulinum toxin is used in many medical fields beyond cosmetic purposes.
research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
research Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
research Localized Primary Cutaneous Nodular Amyloidosis in a Patient With Paraproteinemia
An elderly man with skin amyloidosis and abnormal blood proteins was monitored without finding widespread disease after 18 months.
research Asebia-2J (Scd1ab2J): A New Allele and a Model for Scarring Alopecia
The absence of functional sebaceous glands causes hair follicle destruction and scarring alopecia.
research BUZZ : an essential gene for postinitiation root hair growth and a mediator of root architecture in Brachypodium distachyon
The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.
research The Anti-Muscle Atrophy Effects of Ishige sinicola in LPS-Induced C2C12 Myotubes through Its Antioxidant and Anti-Inflammatory Actions
Ishige sinicola extract may help prevent muscle atrophy through its antioxidant and anti-inflammatory effects.
research Atypical necrobiosis lipoidica of the face
A 36-year-old man had unusual skin lesions on his face without hair loss.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
research Unilateral widespread lichen planus following Blaschko's lines afterMycoplasma pneumoniaeinfection
An 8-year-old girl developed a rare skin condition in a linear pattern on one side of her body after a lung infection, which improved with treatment.
research Distinctive histopathologic findings in linear morphea (en coup de sabre) alopecia
The study found unique skin changes in a rare type of alopecia linked to a skin condition called linear morphea.
research The effect of dietary modulation of sulfur amino acids on cystathionine β synthase–deficient mice
Changing the diet of mice lacking the enzyme CBS can affect symptoms related to the genetic condition.
research Pilomatricoma with Florid Osseous Metaplasia: A Cytologist’s Perspective
A rare skin tumor with bone formation was successfully removed without recurrence.
research RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report
Genetic testing confirmed a young girl has Atrichia with Papular Lesions due to mutations in the hairless gene.
research An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
research Microscopic polyangiitis secondary to Mycobacterium abscessus in a patient with bronchiectasis: a case report
A 70-year-old woman with bronchiectasis developed a rare immune disease due to a bacterial infection, requiring a difficult balance of treatments.
research Progeria (Hutchinson-Gilford Syndrome): Literature Review and Clinical Case
Progeria causes early aging due to a gene mutation, affecting skin, bones, and heart, with treatments aimed at improving life quality.
research A Case of Pityriasis Rubra Pilaris Associated with Myasthenia Gravis
Pityriasis rubra pilaris can occur with myasthenia gravis.
research Acrodermatitis dysmetabolica in an infant with maple syrup urine disease
Increasing isoleucine intake improved skin and health issues in an infant with maple syrup urine disease.
research 454 Modeling epidermolysis bullosa simplex with cardiomyopathy using KLHL24-mutant pluripotent stem cells.
KLHL24-mutant stem cells help understand skin and heart disease.
research Response to Ong et al., "Hair-raising costs: evaluating botulinum toxin treatment for androgenetic alopecia."
Botulinum toxin is not effective for treating male hair loss.
research Nevus psiloliparus: Newly described histopathological features from transverse sections
Nevus psiloliparus lacks mature hair follicles but keeps other skin structures intact.
research Vascular targeting for botulinum toxin pain injections
Botulinum toxin-A may increase hair growth and reduce hair loss in men with baldness, and injecting near blood vessels can improve pain relief and last longer.
research Methylmalonic Acidemia: Can Treatment be Improved?
Looser dietary restrictions can improve growth and reduce illness in methylmalonic acidemia patients.
research Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase
A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.