research Atopic diseases and the risk of alopecia areata among pre-teens and teenagers in Taiwan
Children with atopic diseases have a higher risk of developing alopecia areata.
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research Abnormal Saccadic Oscillations Associated with Severe Acute Respiratory Syndrome Coronavirus 2 Encephalopathy and Ataxia
A man developed neurological issues from SARS-CoV-2 without severe breathing problems, worsening to death.
research A Rare Case of Cronkhite-Canada Syndrome
Early diagnosis and nutritional support are crucial for managing Cronkhite-Canada Syndrome.
research Menkes Syndrome Presenting as Myoclonic Seizures: Neuroimaging and EEG Observations
An 11-month-old boy with Menkes disease had severe brain shrinkage and abnormal blood vessels, and didn't respond well to treatment.
research Clinical Manifestation and Classification of Japanese patients with Inherited Keratinizing Disorders
A simple classification based on symptoms helps diagnose and treat inherited skin disorders in Japan.
research A four generation hidrotic ectodermal dysplasia family: an allelic variant of Clouston syndrome?
The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
research The Case Files
Thyroid storm is hard to diagnose due to vague symptoms but needs urgent attention.
research LB1019 The early region of trichodysplasia spinulosa polyomavirus drives proliferation, altered differentiation, and ectopic expression of hair follicle differentiation markers in interfollicular tail epidermis
The early genes of a specific virus can cause abnormal skin cell growth and hair follicle changes.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Efficacy of Tofacitinib in the Treatment of Universal Alopecia Areata and Primary Sjögren Syndrome
Tofacitinib may effectively treat hair loss and improve symptoms in autoimmune conditions like alopecia areata and Sjögren's syndrome, but long-term treatment might be necessary.
research De novo mutation in the mitochondrial tRNALeu(UUR) gene (A3243G) with rapid segregation resulting in MELAS in the offspring
A new mutation in the mitochondrial DNA was found in a boy with MELAS, even though his family didn't show typical signs.
research Psoriasiform Lesions and Abscesses as Initial Manifestations of Severe Hypothyroidism in a Previously Healthy 15‐Year‐Old Girl
Severe hypothyroidism can cause unusual skin problems that improve with thyroid treatment.
research [Non-motor symptoms in myasthenia gravis: attributed to T-cell clones from thymoma].
Abnormal T-cells from thymomas cause non-motor symptoms in some myasthenia gravis patients.
research A Very Unusual Cause of Diarrhea in a 60-Year-Old Man
The man's diarrhea was caused by a rare disorder called Cronkhite-Canada syndrome, which improved with specific medications.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Netherton's syndrome: A syndrome of elevated IgE and characteristic skin and hair findings
Netherton's syndrome is linked to high IgE levels and unique skin and hair symptoms, and may improve with ammonium lactate lotion and allergy management.
research Clouston’s Syndrome-A Case Report
Clouston syndrome causes issues with teeth, hair, nails, and skin, and has no cure, but recognition has improved.
research Rothmund Thomson syndrome with late onset and good preventive control of non-melanoma cancer with acitretin: case report
Acitretin effectively prevented skin cancer in a patient with late-onset Rothmund-Thomson syndrome.
research Recognition and management of Staphylococcus aureus toxin‐mediated disease
Early detection and intensive treatment of diseases caused by Staphylococcus aureus toxins are crucial for reducing severe health effects.
research Cronkhite-Canada syndrome: An elusive gastrointestinal disorder with multisystem involvement-pathogenesis, diagnosis, and therapeutic strategies
Cronkhite-Canada syndrome is a rare disorder needing early recognition and treatment with immunosuppressive therapies and nutritional support to manage symptoms and prevent complications.
research FAVOURE RACOUCHOT SYNDROME WITH SCALP INVOLVEMENT: A CASE REPORT
A rare skin condition usually found near the eyes was found on a farmer's scalp.
research Lower Extremity Cramping and Palpitations in a 17-Year-Old Boy
The boy's symptoms improved with thyroid treatment, and he lost weight, but occasional palpitations persisted.
research Status of sex reassignment surgery for gender identity disorder in Japan
In Japan, sex reassignment surgery for gender identity disorder faces challenges and needs better medical support and education.
research Systemic retinoids and thyrotoxicosis in (Multi) nodular goiter: Side effect or coincidence?
Retinoids might cause temporary hyperthyroidism in some patients.
research Prevalence, comorbidities, and treatment patterns of Japanese patients with alopecia areata: A descriptive study using Japan medical data center claims database
Alopecia areata is becoming more common in Japan, with a need for better treatments, especially for severe and pediatric cases.
research Trichothiodystrophy in a child with occult learning disorder
Early diagnosis and a multidisciplinary approach are crucial for children with Trichothiodystrophy and hidden learning disorders.
research A 39‐year‐old woman with Lupus, Myositis, and a Recalcitrant Vasculopathy
Antituberculous drugs improved symptoms in a woman with lupus and myositis.
research Polyglandular autoimmune syndrome type III with a prevalence of cutaneous features
PAS III can cause multiple autoimmune diseases with noticeable skin issues.
research SAT-293 Novel Presentation Of A Heterozygous INSR Mutation And Markedly Elevated Testosterone Levels In A Pediatric Patient, A Case Report.
A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
research A Forty-Two-Year-Old Male with Multiple Gastrointestinal Polyps, Cutaneous Manifestations, and Nail Dystrophy
The man was diagnosed with Cronkhite-Canada syndrome, a rare disorder with GI polyps, skin issues, hair loss, and nail problems.