research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.
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780-810 / 1000+ resultsresearch Minoxidil-Related Pericarditis
Minoxidil can cause heart inflammation, so users should be monitored.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research 0960 Evidence for resident memory T cells and necroptosis as drivers of fibrosis in eosinophilic fasciitis and morphea
Resident memory T cells and necroptosis may drive fibrosis in eosinophilic fasciitis and morphea.
research Heterozygous COL5A1 deletion in a cat with classical Ehlers–Danlos syndrome
A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.
research Effects of minoxidil on hemodynamics in patients with congestive heart failure.
Minoxidil improves blood flow in heart failure patients.
research Single nucleotide polymorphisms in the KRT82 promoter region modulate irregular thickening and patchiness in the dorsal skin of New Zealand rabbits
Certain genetic changes in the KRT82 gene may cause patchy skin in New Zealand rabbits.
research A Novel Mutation in theMBTPS2Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research High‐Potency Topical Steroids: An Effective Therapy for Chronic Scalp Inflammation in Rapp–Hodgkin Ectodermal Dysplasia
Strong skin creams work well for long-term scalp inflammation in Rapp-Hodgkin Ectodermal Dysplasia.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
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 RISK FACTORS, PREVALENCE AND DIAGNOSIS OF HUTCHISON GILFORD SYNDROME WITH SPECIAL REFERENCE TO CASE REPORTS
Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
research USE OF RITLECITINIB FOR THE TREATMENT OF ALOPECIA AREATA
Ritlecitinib effectively treats alopecia areata in patients 12 and older with fewer side effects.
research Association between androgenetic alopecia and risk of cardiovascular events in young males: a systematic review and meta-analysis
research Assessment of retinol-binding protein 4 in patients with alopecia areata and androgenetic alopecia
Higher RBP4 levels found in people with two types of hair loss.
research Studying the correlation of renin-angiotensin-system (RAS) components and insulin resistance in polycystic ovary syndrome (PCOs)
The study found a significant link between the renin-angiotensin system and insulin resistance in women with polycystic ovary syndrome.
research Auditory Threshold Variability in the SAMP8 Mouse Model of Age-Related Hearing Loss: Functional Loss and Phenotypic Change Precede Outer Hair Cell Loss
Hearing decline in SAMP8 mice starts before outer hair cell loss and may be linked to other changes.
research Long-Term Efficacy of Ritlecitinib up to Month 24 From the ALLEGRO Phase 2b/3 and Long-Term Phase 3 Clinical Studies in Alopecia Areata
Ritlecitinib is effective for long-term treatment of severe alopecia areata.
research Episodic Neuropathic-Like Musculoskeletal Pain Associated With Ritlecitinib Therapy in Alopecia Universalis: A Case Report
Ritlecitinib may cause severe musculoskeletal pain in some alopecia universalis patients.
research Correlating Cicatricial Alopecia and Cardiovascular Risk: Emerging Insights
People with Primary Cicatricial Alopecia have a higher risk of heart disease.
research A rare cause of irrevocable childhood alopecia feigning alopecia universalis: Atrichia congenita with papular lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
research Porokeratotic eccrine and hair follicle nevus: a report of two cases and review of the literature
Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
research Bilateral temporal alopecia in male androgenetic alopecia: An unusual new presentation
Atypical male hair loss may not respond to usual treatments.
research Cardiovascular disease risk in women with hyperandrogenism, oligomenorrhea/menstrual irregularity or polycystic ovaries (components of polycystic ovary syndrome): a systematic review and meta-analysis
Women with irregular periods have a higher risk of heart disease.
research Graham-Little-Piccardi-Lasseur Syndrome: A Case Report
Early detection of Graham-Little-Piccardi-Lasseur syndrome is key for better management.
research A Plain Language Summary on Ritlecitinib Treatment for Adults and Adolescents with Alopecia Areata
Ritlecitinib works well and is safe for treating alopecia areata.
research Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene
An adult with a rare skin condition improved with tazarotene treatment.
research Faculty Opinions recommendation of Autosomal-dominant woolly hair resulting from disruption of keratin 74 (KRT74), a potential determinant of human hair texture.
A mutation in the KRT74 gene causes woolly hair by affecting hair texture.