research Genetic association of complement component 2 polymorphism with systemic lupus erythematosus
The A allele of the C2 gene increases the risk of lupus, while the G allele may protect against it.
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research Dermatopathology and molecular genetics
Combining skin tissue pathology with genetics has greatly improved the diagnosis and understanding of certain skin diseases.
research Recurrent Pregnancy Loss Associated Cytogenetic and Genetic Anomalies – Study from Eastern India
Genetic variations contribute to over 10% of recurrent early pregnancy loss cases.
research A papular eruption on the face. A distinct subtype of lichen planopilaris?
A rare skin condition affected only the facial hair of a 46-year-old man.
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 Platelet-rich plasma as a novel treatment for lichen planopillaris
Platelet-rich plasma may successfully treat lichen planopillaris, as shown by one patient's symptom regression.
research 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH
Certain genetic variants impair enzyme activity, contributing to non-classic congenital adrenal hyperplasia.
research Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
A specific gene mutation causes varying hair loss severity in a Pakistani family.
research A New Clinical Variant of Hereditary Localized Alopecia: Report of a Chinese Family Mapped to Chromosome 2p25.1–2p23.2
A new type of hereditary hair loss in a Chinese family is linked to chromosome 2p25.1–2p23.2.
research Dunnigan-Type Familial Partial Lipodystrophy: Understanding and Treating the Syndrome
The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
research 151 Efficacy and adverse effects of oral Janus kinase inhibitor (JAKi) use in patients with lichen planopilaris: a retrospective case series and systematic review
Oral Janus kinase inhibitors may be an effective treatment option for lichen planopilaris with some risk of increased cholesterol and liver enzyme levels.
research 035 Expansion of bacterial phosphatidylglycerol reactive CD4+ T cells in atopic dermatitis
People with atopic dermatitis have more CD4+ T cells that respond to a certain bacterial lipid, which may play a role in the skin condition's inflammation.
research Non-invasive human skin transcriptome analysis using mRNA in skin surface lipids
The conclusion is that analyzing RNA from skin oils is a promising way to understand skin diseases.
research The Relationship between Lichen Planus and Carotid Intima Media Thickness.
People with Lichen Planus have thicker carotid artery walls, but it's not solely due to Lichen Planus when other factors are considered.
research 017 Lichen Planus Colocalized with Vitiligo: Coincidence?
Some people with the skin color loss condition, vitiligo, also develop the skin inflammation condition, lichen planus, possibly due to local trauma, sun damage, or genetic factors.
research Bioinformatics analysis and verification of m6A related genes based on the construction of keloid diagnostic model
IGF2BP3 and other m6A-related genes are linked to keloid formation and could be potential treatment targets.
research Hepatology highlights
Tenofovir is more effective than adefovir for resistant hepatitis B, Fibroscan is good for assessing liver damage, regulatory T cells may help hepatitis C persist, and other insights into liver health and disease were found.
research Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
Researchers found a new mutation causing total hair loss from birth.
research A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13
Monilethrix is linked to a gene cluster on chromosome 12.
research Pseudomonas aeruginosa heme metabolites biliverdin IXβ and IXδ are integral to lifestyle adaptations associated with chronic infection
Biliverdin IXβ and IXδ help Pseudomonas aeruginosa adapt to chronic infections.
research Bullous Lesions at Polyethylene Glycol Interferon-alpha-2a Inoculation Site in a Hepatitis C Virus-infected Subject
A patient developed a blister at the injection site after hepatitis C treatment.
research Histologic absence of yeast as a clue for classic lichen planopilaris, fibrosing alopecia in a pattern distribution, and frontal fibrosing alopecia: A cross-sectional observational study
research NUDT15,FTO, andRUNX1genetic variants and thiopurine intolerance among Japanese patients with inflammatory bowel diseases
Genotyping for NUDT15 p.Arg139Cys can help predict thiopurine side effects in Japanese IBD patients.
research HDL as Therapeutic Tools
Modified HDL can better deliver drugs and genes, potentially improving treatments and reducing side effects.
research Lipidized Fibrous Histiocytoma: Differential Diagnosis from Juvenile Xanthogranuloma
The study concluded that careful examination is key to differentiate between lipidized fibrous histiocytoma and juvenile xanthogranuloma.
research Severe form of keratitis–ichthyosis–deafness (KID) syndrome associated with septic complications
Infants with severe KID syndrome may be more prone to serious infections and need close monitoring.
research Localized syringolymphoid hyperplasia with alopecia and anhidrosis
SLHA can be hard to diagnose and needs teamwork between specialists.
research The Case | Bilateral kidney tumors and lung cysts
A man with kidney tumors and lung cysts was diagnosed with Birt–Hogg–Dubé syndrome and treated successfully, with genetic testing confirming the diagnosis.
research Early diagnosis of ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis syndrome: A case report
Early diagnosis and teamwork are crucial for managing ILVASC effectively.
research Haplotype analysis ofVEGFgene polymorphisms in polycystic ovary syndrome
Certain gene variations are found in people with polycystic ovary syndrome.