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research Acrodermatitis Dysmetabolica with Concomitant Acquired Acrodermatitis Enteropathica in a Patient with Maple Syrup Urine Disease
MSUD patients need careful monitoring of amino acids and zinc to prevent severe symptoms.
research MON-913 Testosterone Secreting Ovarian Tumor: A Rare Cause of Erythrocytosis and Pulmonary Embolus
A rare ovarian tumor that produced testosterone caused a blood clot in the lungs and increased red blood cells in a woman.
research Paediatric premature greying of hair: Role of homoeopathy: A case report
Homeopathy helped restore normal hair color in a 5-year-old with premature greying.
research Poikiloderma congenitale-an early case of rothmund-thomson's syndrome
A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
research Macrophage activation syndrome in a patient with systemic lupus erythematosus
A patient with lupus experienced a condition where their immune cells became overactive.
research Congenital cataract and slowly progressing facial skin lesions in a 5‐year‐old boy
A 5-year-old boy has Nevus Comedonicus Syndrome, causing skin lesions and a cataract.
research Retinol Esterification by DGAT1 Is Essential for Retinoid Homeostasis in Murine Skin
DGAT1 enzyme is crucial for healthy skin and hair by regulating retinoid levels.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research Effects of Administration of Vitamin a to Pregnant Dams on the Skin of the Fetuses of Albino Mice
Vitamin A during pregnancy can harm fetal skin development.
research Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy
Cinacalcet may help treat hereditary vitamin D resistant rickets safely.
research Vitamin D-dependent Rickets Type II
A 3-year-old with vitamin D-resistant rickets and severe hair loss died despite treatment, highlighting the need for improved management of the condition.
research Histopathologic Findings of Cutaneous Hyperpigmentation in Addison Disease and Immunostain of the Melanocytic Population
The study found increased skin pigmentation and variable melanocyte density in a patient with Addison's disease.
research Primary and Secondary Disturbances in Trace Element Metabolism Connected with Genetic Metabolic Disorders
Genetic disorders can disrupt mineral and trace element metabolism, affecting health.
research Cutaneous manifestations of metabolic diseases: uncommon presentations
Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.
research Electron microscopic observation of skin and hair on a case of Netherton syndrome
Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient
The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
research Cutaneous extramedullary haematopoiesis: Implications in human disease and treatment
Skin can produce blood cells, often due to disease, which might lead to new treatments for skin and blood conditions.
research 560 The molecular mechanism of PCE-DP, a novel brightening active ingredient
PCE-DP brightens skin and promotes hair growth by enhancing cell growth and reducing melanin uptake.
research Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II
A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
research Acute severe hypokalemia caused by treatment of tongue squamous cell carcinoma with docetaxel and cisplatin: A case report
Chemotherapy with docetaxel and cisplatin can cause severe low potassium, requiring careful monitoring and treatment.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Fever, Maculopapular Rash and Severe Aphthous Stomatitis in a Renal Transplant Patient
The patient improved after antiviral treatment for a viral infection.
research Gene detection in a family with monilethrix and treatment with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.
research Reduced serum vitamin B12 levels during oral cyproterone-acetate and ethinyl-oestradiol therapy in women with diffuse androgen-dependent alopecia
Taking cyproterone acetate and ethinyl oestradiol for hair loss can lower vitamin B12 levels in women.
research Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
research When Recurrent Strokes, Back Pain, and Alopecia Constitute a Hereditary Cause of Small-Vessel Disease, CARASIL in an Arabic Woman
CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
research Pigmentary Puzzle: A Rare Case of Hyperpigmented Cutaneous Sarcoidosis
Early biopsy is crucial for diagnosing rare skin sarcoidosis, improving treatment.
research Gene detection in a family with monilethrix and observation of the treatment effect with 5% topical minoxidil
5% topical minoxidil improves hair density and quality in monilethrix patients.