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research Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree
A new genetic variant in the LIPH gene causes hair growth issues in a Chinese patient.
research S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis
Early diagnosis and treatment of hereditary hemochromatosis can prevent serious complications.
research Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Lichen Planus Pigmentosus as a Cutaneous Extrahepatic Manifestation of Chronic Hepatitis C Virus Infection: A Case Report
Lichen planus pigmentosus may indicate undetected hepatitis C infection.
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 Unusual acute lupus hemophagocytic syndrome – a test of diagnostic criteria: a case report
The 2012 criteria are better for diagnosing atypical lupus cases.
research Evaluation of lipid levels in androgenetic alopecia in comparison with control group
Men with a certain type of hair loss (AGA) have higher bad cholesterol and lower good cholesterol levels, making them more likely to get heart disease.
research Ovarian Leydig cell hyperplasia as a rare cause of hair loss in a postmenopausal female patient: a case report and diagnostic approach toward postmenopausal hyperandrogenism
An 84-year-old woman's hair loss was due to a rare condition called Leydig cell hyperplasia, which was treated with surgery.
research Successful plasmapheresis and immunoglobulin treatment for severe lipid storage myopathy: Doing the right thing for the wrong reason
Correct diagnosis and treatment are crucial for effective management of lipid storage myopathies.
research Hypomyelinating leukodystrophy-10 presenting with an additional atypical feature of increased body hair and Mongolian spots
HLD10 can include increased body hair and Mongolian spots.
research Evaluation of Serum Homocysteine Levels in Patients with Cutaneous-Oral Lichen Planus and Psoriasis Patients
Patients with psoriasis and cutaneous-oral lichen planus have higher blood homocysteine levels than healthy people.
research BH03 Lipoedematous scalp occurring in two female siblings: further evidence of a genetic role?
Two sisters with lipoedematous scalp suggest a genetic influence in the 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 Clinical and Laboratory Characteristics of Individuals Aged ≤17 Years With Homeostatic Iron Regulator (HFE) p.C282Y Homozygosity, a Common Hemochromatosis Genotype
Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
research Anti-DFS70 sebagai Penanda Kejadian Autoimun Nonsistemik (Primary Billiar Cholangitis) pada Systemic Lupus Erythematosus
Anti-DFS70 antibodies can help identify nonsystemic autoimmune conditions in SLE patients.
research Apparent Hyperandrogenemia Due to Immunoassay Interference Resolved by Liquid Chromatography–Tandem Mass Spectrometry
False high testosterone levels were corrected using a more accurate test.
research A prospective case control study on metabolic syndrome in lichen planus in a tertiary care centre
Lichen planus is not linked to metabolic syndrome, but it is associated with higher rates of high blood pressure, high triglycerides, and low HDL cholesterol.
research A RARE CASE OF ISOLATED PULMONARY INVOLVEMENT IN LYMPHOID VARIANT HYPEREOSINOPHILIC SYNDROME
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
research Cholesterol homeostasis in hair follicle keratinocytes is disrupted by impaired ABCA5 activity
Impaired ABCA5 activity disrupts cholesterol balance in hair follicle cells, affecting hair growth.
research Hyperplasia of the Subcutaneous Adipose Tissue Is the Primary Histopathologic Abnormality in Lipedematous Scalp
Lipedematous scalp is mainly caused by an increase in fat tissue under the skin and is different from lipedematous alopecia.
research Berardinelli–Seip syndrome
Early diagnosis and treatment are crucial for managing Berardinelli–Seip syndrome.
research Systemic lupus erythematosus as a rare cause of hypercalcemia: A case report
Lupus can be a rare cause of high calcium levels in the blood.
research Selective complete Clq deficiency associated with systemic lupus erythematosus.
Clq deficiency is linked to systemic lupus erythematosus symptoms.
research Lupus erythematosus-like lesions in a carrier of X-linked chronic granulomatous disease: A case report and personal considerations
A woman with X-linked chronic granulomatous disease developed lupus-like skin lesions, improved with treatment, suggesting a unique skin condition in carriers.
research Early Skin Biopsy in Conradi‐Hünermann‐Happle Syndrome (X‐Linked Dominant Chondrodysplasia Punctata)
Early skin biopsy is crucial for diagnosing Conradi-Hünermann-Happle syndrome.
research Ciencia, tecnología y sociedad, materia optativa de bachillerato
Cholesterol issues in skin and hair may cause permanent hair loss by triggering inflammation.
research Bilateral Burning Palmoplantar Lesions
The woman was diagnosed with lichen sclerosus, a rare skin condition, after initial misdiagnosis and ineffective treatments.
research Increased frequency of heterozygoshy for the 21 hydroxylase deficiency among hersute females
Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.
research Perforating folliculitis with jaundice in an Indian male: a rare case with sclerosing cholangitis
Surgery resolved the man's skin and liver issues, and he stayed symptom-free for a year.