research A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
A new genetic mutation linked to CARASIL syndrome and small artery disease was found in a Chinese family.
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630-660 / 1000+ resultsresearch S2926 Hepatic Steatosis and Acute Liver Injury in Chronic Arsenic Exposure
Chronic arsenic exposure can cause liver damage and other health issues.
research Non-classic congenital adrenal hyperplasia
Non-classic congenital adrenal hyperplasia is a common disorder causing symptoms like acne and infertility, and it's managed based on symptoms, not just test results. Treatment can improve fertility and reduce miscarriage risk.
research Successful Treatment of Canities Subita with Baricitinib
Baricitinib may effectively treat sudden hair whitening and regrowth in some cases.
research Hereditary Mucoepithelial Dysplasia and Autosomal-Dominant IFAP Syndrome Is a Clinical Spectrum Due to SREBF1 Variants
A mutation in the SREBF1 gene causes both hereditary mucoepithelial dysplasia and IFAP syndrome, which are related conditions.
research P447: Late onset biotinidase deficiency misdiagnosed as neuromyelitis optica: A case report and review of diagnostic challenges
Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.
research Syndromic or non-syndromic congenital ichthyosis? A case report of two brothers with ichthyosis but microphthalmia and blindness in only one brother
The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
research The Excretion of Pantothenic Acid in Patients with Achromotrichia and Alopecia
Patients with hair pigment loss and hair loss may have altered pantothenic acid metabolism.
research Alopecia universalis with IL-12-RB1 and STAT4 mutations effectively treated with upadacitinib
Upadacitinib successfully regrew hair in a child with alopecia universalis and specific genetic mutations.
research Kennedy's disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
The conclusion is that adult males with muscle weakness and hormonal imbalances should be tested for Kennedy's disease.
research Diaminodiphenyl Sulfone-Induced Hemolytic Anemia and Alopecia in a Case of Linear IgA Bullous Dermatosis
DDS treatment for LABD can cause severe side effects like anemia and hair loss, requiring careful monitoring.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Lack of classic histology should not prevent diagnosis of necrolytic acral erythema
Consider necrolytic acral erythema in similar cases and treat with oral zinc sulfate.
research Effectiveness of Abrocitinib in Adolescent Alopecia Areata: A Prospective Observational Pilot Study
Abrocitinib significantly improved hair regrowth in adolescents with alopecia areata without serious safety issues.
research ASSESSMENT OF SERUM LEVELS OF ANTIGLIADIN ANTIBODIES (IgG and IgA) IN PATIENTS WITH ALOPECIA AREATA AND THEIR RELATION TO SEVERITY OF THE DISEASE
Higher antigliadin antibodies are linked to more severe alopecia areata, suggesting screening for celiac disease in these patients.
research Ornithine decarboxylase transgenic mice as a model for human atrichia with papular lesions
ODC transgenic mice can model human hair loss with skin lesions.
research Management of Alopecia and Onychomycosis in a Lupus Patient
Mycophenolic acid effectively improved hair and nail growth in a lupus patient.
research Toxic epidermal necrolysis caused by skin hypersensitivity to monosulfiram.
A woman's severe skin reaction was caused by an allergy to a skin treatment.
research Hyperuricemia is associated with androgenetic alopecia in men: A cross‐sectional case‐control study
High uric acid levels link to male pattern baldness, especially in young men.
research Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation
Different gene mutations cause different types of ichthyosis, with some new mutations found.
research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research 53289 Clinical and metabolic characteristics of male patients with early-onset androgenetic alopecia: A possible predisposition to metabolic syndrome
Early-onset male baldness may increase the risk of metabolic syndrome.
research Causal effects of glutamine and lipid-related metabolites on alopecia areata: A 2-sample Mendelian randomization study
Glutamine may protect against alopecia areata, while certain cholesterol and glucose levels may increase risk.
research [Association of a pediatric bullous eruption, cutaneous and muscular atrophy, hyperpigmentation and dysmorphism. A new entity?].
The boy's symptoms suggest a possible new medical condition.
research Kyoto Rhino Rats Derived by ENU Mutagenesis Undergo Congenital Hair Loss and Exhibit Focal Glomerulosclerosis
A new rat strain with a specific gene mutation causes hair loss and kidney issues.
research Non-classical Congenital Adrenal Hyperplasia Presenting With Severe Androgenic Alopecia: A Case Report
Early diagnosis and treatment of NCCAH can improve symptoms and fertility.
research Enteropathica Acrodermatitis Complicated by Necrotising Fasciitis in an Infant Admitted to the Paediatric Emergency Department of the Gabriel Touré University Hospital
A 7-month-old girl with a rare skin disorder died because diagnosis was delayed.
research ADRENAL FAILURE: WHEN ANTIPHOSPHOLIPID SYNDROME LEAVES SCARS
Antiphospholipid syndrome can severely damage adrenal glands, requiring early diagnosis and treatment.