research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
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research Atypical Case of Minoxidil-Induced Generalized Anasarca and Pleuropericardial Effusion
Minoxidil can cause severe body swelling and fluid buildup, which improves after stopping the drug and using diuretics.
research Differential effects of propranolol on heart rate and plasma renin activity in patients treated with minoxidil
Propranolol affects heart rate and renin levels in minoxidil-treated patients.
research Acanthosis Nigricans during an HAIR-AN syndrome: "The Tree That Hides the Forest"
The case shows skin changes can indicate deeper health issues like insulin resistance, which are challenging to manage.
research DSP c.6310delA p.(Thr2104Glnfs*12) associates with arrhythmogenic cardiomyopathy, increased trabeculation, curly hair, and palmoplantar keratoderma
A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
research Minoxidil and pericardial effusion: An idiosyncratic reaction
Minoxidil can cause dangerous fluid buildup around the heart.
research Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research How rare is isolated rheumatic tricuspid valve disease?
Isolated rheumatic tricuspid valve disease is very rare.
research Hidradenitis secondary to nirogacestat, a recently approved desmoid tumor medication
Nirogacestat can cause severe skin issues like hidradenitis suppurativa.
research Acute Encephalomyelitis Syndromes Associated with H1N1 Influenza Vaccinations; Erythema Multiforme Secondary to H1N1 Vaccine; Cytolytic Hepatitis Possibly Related to Oral Contraceptives; Drug Rash with Eosinophilia and Systemic Symptoms (DRESS) Syndrome Associated with Lamotrigine: First Report; Behavioral Disinhibition with Baclofen; Minoxidil-Induced Trichostasis Spinulosa of Terminal Hair; Delayed-Onset Mirtazapine-Related Leukopenia
Various medications and vaccines can cause serious side effects.
research Plica Neuropathica as a Presenting Rare Dermatologic Symptom of Schizophrenia
Plica neuropathica can be a sign of schizophrenia and improves with antipsychotic treatment.
research COVID‐19 and cutaneous manifestations: A review of the published literature
Skin rashes can help diagnose COVID-19 early.
research Fox-Fordyce Disease
The patient had a severe itchy rash and hair loss in the armpits.
research Primary Generalized Glucocorticoid Resistance or Chrousos Syndrome: Allostasis Through a Mutated Glucocorticoid Receptor
Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
research A case of rosacea fulminans during pregnancy with review of the literature
Pregnancy can trigger severe rosacea, which may be treated with antibiotics and steroids, but there's no clear treatment guideline.
research Evaluation of Patient with Peripheral Arterial Disease: General Surgeons’ Perspective
General surgeons in India need to manage peripheral arterial disease due to a shortage of vascular surgeons.
research Tourniquet syndrome in children (literature review and own observation)
Quick action and prevention are crucial to avoid severe complications from tourniquet syndrome in children.
research [Artículo traducido] Características clínicas y sociodemográficas de la alopecia areata en 5 ciudades colombianas: un análisis del RENAAC
Alopecia areata is more common in women, often appears as patchy hair loss, and is usually treated with steroid injections and minoxidil.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Bridging Personal and Population in Excitability Diseases: Will Studies of Rare Diseases Bring Generalizable Mechanisms From Monogenic Channelopathies?
Studying rare genetic disorders can help us understand and treat common diseases better.
research 4 Vitamin D resistance
Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
research Impending central retinal vein occlusion and granulomatous uveitis in a patient with Satoyoshi syndrome
Satoyoshi syndrome can cause eye problems like uveitis and retinal vein issues.
research A New CARASIL Family: Recurrent Lobar Hemorrhage as a Novel Characteristic of the Disease
CARASIL can cause different symptoms even with the same genetic mutation.
research A Girl with a Novel Splice Site Mutation in VDR Supports the Role of a Ligand-Independent VDR Function on Hair Cycling
A mutation in the VDR gene affects hair cycling without needing ligand binding.
research A human vitamin D receptor mutation causes rickets and impaired Th1/Th17 responses
A vitamin D receptor mutation causes rickets and affects immune responses.
research Epidemiology of alopecia areata in Hispanic/Latinx patients
Hispanic/Latinx patients with alopecia areata often have it before age 40, with females and certain health conditions like rheumatoid arthritis more commonly affected.
research Reticular Erythematous Mucinosis Syndrome
Reticular erythematous mucinosis syndrome can occur with minimal mucin deposition.
research Clinical case of Vogt–Koyanagi–Harada syndrome
Early treatment with corticosteroids improved her eye condition significantly.
research Nail changes in non-infectious skin diseases: a narrative review
Recognizing nail changes helps diagnose and treat non-infectious skin diseases.
