60 citations,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
23 citations,
February 2004 in “Clinical and Experimental Ophthalmology” A boy with chromosome 13q deletion syndrome developed eye cancer, a woman with breast cancer lost vision due to a rare side-effect of her treatment, a man's vision worsened after using a hair loss drug, and two rare disorders were discussed. Optical Coherence Tomography is useful for diagnosing and monitoring these conditions.
April 2018 in “Nasza Dermatologia Online” People with Down's syndrome are more likely to have syringomas.
20 citations,
February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
January 2022 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” Uncombable hair syndrome causes frizzy hair and can affect the nervous system, eyes, and ears, often co-occurring with other hair, skin, nail, and teeth conditions, and is linked to three specific gene mutations.
9 citations,
February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
89 citations,
September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
5 citations,
December 2014 in “Molecular cytogenetics” A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.
2 citations,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
171 citations,
October 1990 in “Alcoholism/Alcoholism, clinical and experimental research” The document concludes that the exact way alcohol causes harm to fetal development is unknown, but it significantly affects nutrient transport to the fetus and a safe level of alcohol during pregnancy is not determined.
6 citations,
February 2004 in “Clinical and Experimental Ophthalmology” The document concludes that careful diagnosis is crucial for chromosome 13q deletion syndrome, tamoxifen can cause reversible eye damage, finasteride may be linked to cataracts, and OCT is useful for diagnosing macular diseases.
11 citations,
February 2004 in “Clinical and Experimental Ophthalmology” Taking Propecia might lead to the development of cataracts.
7 citations,
February 2004 in “Clinical and Experimental Ophthalmology” Finasteride, often used for hair loss, can potentially cause cataracts.
5 citations,
February 2004 in “Clinical and Experimental Ophthalmology” Multiple eye conditions were studied, highlighting the importance of various imaging methods for diagnosis, the vision side effects of drugs tamoxifen and Propecia, and the usefulness of optical coherence tomography for diagnosing and monitoring macular and retinal diseases.
3 citations,
April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
7 citations,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
2 citations,
January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
14 citations,
March 2018 in “The American journal of case reports” People with the same genetic mutation for Woodhouse-Sakati syndrome can have different symptoms.
11 citations,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
112 citations,
August 2012 in “The American Journal of Human Genetics” Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
66 citations,
June 2018 in “British Journal of Dermatology” European guidelines recommend regular eye and ear exams, skin care, vitamin D supplements, and cautious use of medications for managing congenital ichthyoses.
January 2017 in “Springer eBooks” The document explains various skin conditions and their treatments.
April 2016 in “Journal of Clinical Research in Dermatology” A woman had skin and hair issues after a botulinum toxin injection.
3 citations,
July 1996 in “Clinics in Dermatology” Cytokines are important for immune responses and treating diseases, but they can cause side effects like fever and skin issues.
3 citations,
February 2018 in “Aesthetic plastic surgery” The Locked Cheek Lift is a simple, effective method for cheek and lower eyelid rejuvenation with a high success rate and minimal complications.
27 citations,
July 2018 in “Journal of optometry” Eyelashes protect the eyes, but more research is needed to understand how.
36 citations,
January 2012 in “International Journal of Trichology” Losing eyelashes or eyebrows can be a sign of many different health problems and needs a careful approach to treat effectively.
19 citations,
September 2002 in “Acta dermato-venereologica” Topical tacrolimus did not regrow hair in alopecia universalis patients.
18 citations,
July 1996 in “Facial Plastic Surgery” Knowing detailed head and neck anatomy is crucial for safe and effective facelift surgery.