research A 12‐year‐old boy with petechiae, arthralgias, and muscle weakness
The boy's scurvy symptoms improved with vitamin C treatment, highlighting the need for a balanced diet.
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90-120 / 1000+ resultsresearch Hidradenitis suppurativa and Mediterranean fever gene mutations
Hidradenitis suppurativa may be more severe in people with Mediterranean fever gene mutations.
research SALICYLATE INGESTION AND IDIOPATHIC HAIR LOSS
Avoiding aspirin may prevent hair loss.
research Hair as an Index of Protein Malnutrition
Hair cystine levels may indicate protein malnutrition, but more research is needed.
research Carence en fer et troubles digestifs
Iron deficiency can cause fatigue, exercise intolerance, and cognitive issues, even without anemia.
research Cronkhite-Canada syndrome associated withmyelodysplastic syndrome
A woman with both Cronkhite-Canada syndrome and myelodysplastic syndrome improved significantly with corticosteroid treatment.
research Evaluation of cardiovascular disease risk factors in patients with mycosis fungoides
Patients with mycosis fungoides have a higher risk of heart disease.
research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
research Cases Report the Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome may be more treatable and less severe than previously thought.
research Recurrent missense mutations in the hair keratin gene hHb6 in monilethrix
Mutations in the hHb6 gene cause the hair disorder monilethrix.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research Acrodermatitis dysmetabolica secondary to isoleucine deficiency in infant with maple syrup urine disease
A baby with maple syrup urine disease improved from skin problems by adjusting his diet to correct amino acid levels.
research Persistent scurvy after vitamin C supplementation in a high-risk patient: a case report
Vitamin C deficiency can persist in high-risk patients despite supplementation.
research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
research PSAT330 Excess Iodine Intake From a Cystic Fibrosis Supplement Induces Symptomatic Hypothyroidism
Excessive iodine from a cystic fibrosis supplement can cause hypothyroidism.
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 Urinary 5-ene-steroid excretion in non-classical congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency (NC-3BHSD)
Some women with excess hair growth have a hormone condition that can't be diagnosed by blood or urine tests alone.
research A Case of Sheehan Syndrome Presenting with Pancytopenia and Dilated Cardiomyopathy: A Rare Combination
A woman with Sheehan syndrome improved with hormone treatment.
research The iron content of human hair. II. Individuals with disturbed iron metabolism.
research Analysis of Cysteine on the Surface of Hair Fibers with Spectrofluorescence
Cysteine formation on hair indicates damage, best detected at pH 4.5.
research PSAT217 Estrogen Deficiency as a Cause of Decreased 1- alpha - hydroxylase Activity
Estrogen deficiency can reduce the enzyme activity needed to activate vitamin D.
research MON-369 Treatment of Nonclassic 11-Hydroxylase Deficiency with "Hair, Skin, and Nails," an Over-the-Counter, Insulin Sensitizing Vitamin/Mineral Supplement
An over-the-counter vitamin/mineral supplement improved hair loss and blood sugar control in a woman with non-classic 11-hydroxylase deficiency.
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 Cronkhite-Canada syndrome: A case report and literature review
Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
research Cronkhite-Canada syndrome: A rare disease presenting with dermatological and gastrointestinal manifestations
A patient with Cronkhite-Canada syndrome improved with nutritional support and steroids, but early diagnosis is key due to high mortality.
research Nonclassic congenital adrenal hyperplasia and the heterozygote carrier
Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
research Analytical interference of biotin
Taking too much biotin can mess up blood test results, which might lead to wrong diagnoses and treatments.
research Higher Serum Ceruloplasmin Levels May Indicate the Role of Oxidative Stress in Onychomycosis
High levels of ceruloplasmin might indicate more severe toenail fungus.
research Trichorrhexis Nodosa Secondary to Argininosuccinicaciduria
Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
research Tricotiodistrofia. Reporte de un caso
A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.