research Inborn Errors of Biotin Metabolism
Two enzyme defects in biotin metabolism cause severe skin, hair, and metabolic issues.
Search
for
Sort by
Research
90-120 / 1000+ results
research Erythrocyte deformability and hereditary elliptocytosis
Hereditary elliptocytosis causes elongated red blood cells and can lead to mild or no symptoms.
research Exposure to hair metals and metal-mixtures associated with blood lipids and dyslipidemia in Chinese adults: Evidence from a national cross-sectional study
Higher levels of molybdenum and lead in hair are linked to increased cholesterol and dyslipidemia risk.
research 5175 A Rare Case of Type B Insulin Resistance Syndrome
Type B Insulin Resistance Syndrome is rare, linked to lupus, and hard to treat due to severe insulin resistance.
research Association between Lipid Accumulation Product and Hirsutism in Patients with Polycystic Ovary Syndrome
High Lipid Accumulation Product levels are linked to more hirsutism in women with Polycystic Ovary Syndrome.
research Partial biotinidase deficiency: Clinical and biochemical features
Children with partial biotinidase deficiency are healthy at birth but may develop symptoms that improve with biotin therapy.
research Multiple facial atrophic scars in childhood
A 5-year-old girl with a rare genetic disorder, lipoid proteinosis, showed reduced new lesions but persistent scars after avoiding skin trauma.
research Lipedematous alopecia of the scalp
Lipedematous scalp may be underdiagnosed and doesn't improve with finasteride.
research Severe hypoalbuminemia in patient with pulmonary edema and pleural effusion: a case report
Hypoalbuminemia can cause pleural effusion and needs careful treatment.
research Serum lipoprotein (a) as an atherosclerosis risk factor in men with androgenic alopecia
Men with male pattern baldness may have a higher risk of heart disease due to increased levels of a specific lipid in their blood.
research Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies
New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research Frequency of deranged blood lipids in male patients with androgenetic alopecia
Many men with male pattern baldness have abnormal blood fat levels, which may raise their risk of heart disease.
research In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis
Three specific mutations in the LIPH gene can cause hair loss by damaging the protein's structure and function.
research Acute parenchymal lung involvement in a 68-year-old woman with systemic lupus erythematosus, anemia, and thrombocytopenia
A 68-year-old woman with lupus and blood disorders improved after increased steroids and immunoglobulin treatment.
research Serum lipidomic changes and sex differences in androgenetic alopecia
People with androgenetic alopecia have different lipid levels in their blood, which vary between men and women, and may be linked to a higher risk of metabolic syndrome.
research Metabolic and pathologic profiles of human LSS deficiency recapitulated in mice
Mice with LSS deficiency showed hair loss and cataracts, similar to humans, and can help in understanding and treating this condition.
research An unusual presentation of X-linked adrenoleukodystrophy
A man with X-ALD improved after treatment, highlighting the need to consider X-ALD in similar patients and test their relatives.
research Beta thalassemia revealing hypothyroidism: A case report
Frequent blood transfusions in beta thalassemia patients can lead to thyroid problems.
research RETRACTED: Serum lipids may causally affect the occurrence of alopecia areata: A Mendelian randomization study
Higher LDL lipids may increase alopecia areata risk, while higher triglycerides may decrease it.
research Dyslipidemia in patients with androgenetic alopecia. Statins, finasteride or both?
Alopecia patients have higher heart disease risk; statins and finasteride may help.
research Loose anagen hair syndrome in two patients with epidermolysis bullosa simplex, Dowling-Meara type
Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
research Finasteride-Induced Pseudoporphyria
Finasteride caused blisters on hands and feet.
research Identification of 736T>A mutation of lipase H in Japanese siblings with autosomal recessive woolly hair
The 736T>A mutation in the LIPH gene is common in Japanese people with autosomal recessive woolly hair.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research 162 A review of the clinical and histopathological characteristics of patients with subepidermal blistering disorders presenting to a tertiary care centre in India
Most patients with blistering skin disorders in South India had bullous pemphigoid and often had other conditions like hypertension and diabetes.
research Plasma Diaphanous Related Formin 1 Levels Are Associated with Altered Glucose Metabolism and Insulin Resistance in Patients with Polycystic Ovary Syndrome: A Case Control Study
Women with Polycystic Ovary Syndrome (PCOS) have lower levels of a substance called DIAPH1 in their blood, which is linked to changes in sugar metabolism and insulin resistance.
research Lipedematous scalp with heterochromia of scalp hair in a boy
A boy had a rare scalp condition with thickened skin and different-colored hair.
research A case of antilaminin 332 mucous membrane pemphigoid showing a blister on the bulbar conjunctiva and a unique epitope on the α3 subunit
A woman with a rare autoimmune disorder had a blister on her eye and unique immune reaction, which was effectively treated with medication.
research Abnormal essential fatty acid composition of tissue lipids in genetically diabetic mice is partially corrected by dietary linoleic and γ-linolenic acids
Dietary essential fatty acids improved skin and hair conditions and partially corrected fat composition in diabetic mice.