research Frontotemporal dementia with parkinsonism presenting as posterior cortical atrophy
A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
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660-690 / 1000+ results research A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research Recurrent MBTPS2 variant c.970+5G>A in IFAP syndrome: a mutational hotspot
The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
research 11. Accelerated UIP: a special challenge
Diagnosing and treating rapidly worsening lung disease is difficult and requires better guidelines and understanding.
research Pharmacogenetic Determinants of Valproic Acid Efficacy, Toxicity, and Serum Levels in Genetic Generalized Epilepsy
Genetic factors may influence how well valproic acid works and its side effects in epilepsy treatment.
research Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain
A boy's growth and immune problems were caused by a new mutation in the STAT5B gene.
research Commentary 2
Genetic factors play a major role in acne.
research A novel MBTPS2 variant associated with BRESHECK syndrome impairs sterol‐regulated transcription and the endoplasmic reticulum stress response
A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
research Characterization of factors that determine lentiviral vector tropism in skin tissue using an ex vivo model
Lentiviral vector effectiveness in skin is influenced by external factors, not receptor availability.
research First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy
New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
research Mitochondrial DNA 10158T>C mutation in a patient with mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes syndrome
A patient with a rare disease had a unique genetic mutation linked to their symptoms.
research Deregulated expression of E2F1 induces hyperplasia and cooperates with ras in skin tumor development
Overexpression of E2F1 can lead to skin tumors and disrupt hair growth.
research P-055 MONOZYGOTIC TRANSGENDER MALE TWINS: A CASE REPORT HIGHLIGHTING GENETIC CONCORDANCE IN GENDER DYSPHORIA
Genetics may play a significant role in gender dysphoria.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
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 Materialism, Transformation Expectations, and Spending: Implications for Credit Use
People who are more materialistic often expect life changes from buying things, leading to more debt and credit misuse.
research Biochemical and trichological characterization of diffuse alopecia in women
Diffuse alopecia in women may be related to androgens and iron deficiency, and basic hormone and nutrient screening is useful.
research Alopecia areata: Pathogenesis and treatment
No single treatment is consistently effective for alopecia areata, and more research is needed.
research Female Pattern Hair Loss: a clinical and pathophysiological review
Female Pattern Hair Loss affects women's self-esteem and needs more research for better treatment.
research Human Epidermal Neural Crest Stem Cells (hEPI-NCSC)—Characterization and Directed Differentiation into Osteocytes and Melanocytes
Human epidermal neural crest stem cells can become bone and skin pigment cells, making them useful for therapies.
research Polycystic Ovarian Syndrome
Eating 500 fewer calories a day and making lifestyle changes can improve PCOS symptoms and reduce diabetes risk; more research is needed on its causes and treatments.
research Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument
Coats' Plus is a genetic disorder with eye abnormalities, brain calcification, poor growth, bone and skin issues, and movement disorders.
research Androgenetic alopecia in men and women
Androgenetic alopecia involves genetics, hormones, and can be treated with medications or surgery.
research Natural progression of male pattern baldness in young men
Young men with male pattern baldness lose hair density over time without treatment.
research The incidence of diplopia following coronal and translid orbital decompression in Graves' orbitopathy
Orbital decompression surgery for Graves' orbitopathy caused double vision in 19% of patients, with similar rates for two surgical methods.
research The diagnosis of polycystic ovary syndrome: the criteria are insufficiently robust for clinical research
The current methods for diagnosing polycystic ovary syndrome are too vague and may lead to misdiagnosis and problems in research.
research Frontal Fibrosing Alopecia in a Man: Results of Follicular Unit Test Grafting
Hair transplantation may not work for Frontal Fibrosing Alopecia as transplanted hair was lost when the disease came back.
research Curtailing PCOS
Lifestyle changes are the main treatment for PCOS, which is a complex condition requiring early management to reduce its health impacts.
research Evidence-based approach to cutaneous hyperandrogenism in women
The conclusion is that oral contraceptives and antiandrogens can treat hirsutism and acne in women with cutaneous hyperandrogenism, but more research is needed for effective treatments, especially for hair loss.
research Viral-Associated Trichodysplasia of Immunosuppression
A 5-year-old boy's skin condition improved with systemic valganciclovir after a cardiac transplant and immunosuppressive therapy.