research Acrodermatitis enteropathica – diagnostic challenges
Genetic testing confirmed a rare skin disorder in a young girl, which improved with zinc supplementation.
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300-330 / 1000+ results research 66-Year-Old Woman With Painless Vesicular Lesions
A woman was diagnosed with porphyria cutanea tarda and improved with phlebotomy and lifestyle changes.
research CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
A new mutation in the CDH3 gene causes hair loss and vision problems in a young girl.
research SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder
Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
research Biotin Deficiency in a Patient with Short Bowel Syndrome during Home Parenteral Nutrition
Biotin supplements restored hair and resolved symptoms in a woman with biotin deficiency.
research PMON224 Newly Observed Interference of Oral Biotin with the Free Testosterone Assay? In a Woman with Postmenopausal Virilization.
Taking biotin can lead to incorrect low results in free testosterone tests.
research HSD3B1 gene polymorphism and female pattern hair loss in women with polycystic ovary syndrome
HSD3B1 gene variant and being overweight linked to hair loss in women with polycystic ovary syndrome.
research Low level of high-density lipoprotein cholesterol is solely associated with greater severity of male androgenetic alopecia: A cross-sectional study of Thai population
research Insulin Resistance, Acanthosis Nigricans, and Polycystic Ovaries Associated with a Circulating Inhibitor of Postbinding Insulin Action
A circulating inhibitor caused insulin resistance, but clomiphene improved symptoms.
research ASSOCIATION OF ANDROGENETIC ALOPECIA AND HYPERLIPIDEMIA
Men with a certain type of hair loss (vertex type AGA) may have higher levels of bad fats (triglycerides) and lower levels of good cholesterol (HDL), suggesting they could be at risk for high fat levels in the blood (hyperlipidemia).
research Hutchinson-Gilford progeria syndrome - A brief introduction
Hutchinson-Gilford Progeria Syndrome caused rapid aging due to a genetic mutation, with treatments to manage symptoms.
research Alopecia and periorificial dermatitis in biotin-responsive multiple carboxylase deficiency
Biotin supplements can effectively treat hair loss and skin issues in certain enzyme deficiencies.
research SnapshotDx Quiz: May 2020
BIVV009 is a safe treatment for bullous pemphigoid that reduces C3 deposition without harmful side effects.
research Plain Language Summaries
Eczema patients have a lower skin lipid to protein ratio, older and longer-staying hospital patients are more likely to get pressure ulcers, hair loss in AGA is linked to muscle degeneration, vitamin D deficiency is common in alopecia areata and linked to its severity, standard liver tests don't effectively detect fibrosis in psoriasis patients on methotrexate, and bullous pemphigoid patients have a higher death risk but combination therapy may reduce it.
research Lipodermatosclerosis: a postphiebitic syndrome
The patient has a leg condition caused by vein issues, needing lifestyle changes and leg care.
research Anaemia and skin disease
Some skin diseases and anaemia are related, and treating the skin condition can often improve the anaemia.
research Ultrasonographic and laboratory markers of metabolic and cardiovascular disease risk in obese women with polycystic ovary syndrome
Obese women with PCOS are more likely to have fatty liver disease.
research Low Serum Biotinidase Activity in Children with Valproic Acid Monotherapy
Children taking higher doses of valproic acid had lower biotinidase activity, which may lead to biotin deficiency, but biotin supplements could help.
research Keratosis pilaris with adjacent haemosiderin deposition: a clue to scurvy
A man's skin condition and poor diet led to a scurvy diagnosis.
research Alopecia in Epidermolysis Bullosa
The document suggests that certain protein deficiencies and scalp blistering in Epidermolysis Bullosa may cause hair loss.
research Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy
Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
research Anthropometric Characteristics of Polycystic Ovary Syndrome and Their Associations with Insulin Resistance and Lipid Profile
Women with PCOS have higher body fat and worse insulin resistance and lipid profiles.
research Receiver operating characteristic analysis of the performance of basal serum hormone profiles for the diagnosis of polycystic ovary syndrome in epidemiological studies
Low SHBG and high FAI, FT, and DHEAS levels are effective in identifying PCOS.
research Rare Concurrence of Alopecia Areata in the Setting of the Lipedematous Scalp
A patient with a thick scalp and hair loss was correctly diagnosed with alopecia areata and a thick scalp fat layer, not lipedematous alopecia, and regrew hair after treatment.
research Pseudallescheria boydii infection associated with IgG4-related disease
research Case Report: Bi-allelic missense variant in the desmocollin 3 gene causes hypotrichosis and recurrent skin vesicles
A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research SAT-240 Type B Insulin Resistance Resulting in Hyperthecosis in a Postmenopausal Woman
A woman's severe insulin resistance improved with treatment, but she still had high testosterone levels due to ovarian issues.
research High-resolution structures of mutants of residues that affect access to the ligand-binding cavity of human lipocalin-type prostaglandin D synthase
Mutations in the enzyme don't significantly change how it binds to its specific substances.
research IMMUNOLOGICAL AND SOME BIOLOGICAL BIOMARKERS INVESTIGATION IN PATIENTS WITH SYSTEMIC LUPUS ERYTHEMATOSUS
No single biomarker is reliable enough for diagnosing and assessing SLE.