4 citations
,
September 2004 in “Experimental Dermatology” Connexin mutations can cause various diseases like hearing loss and skin disorders.
50 citations
,
February 2013 in “Annals of Clinical Biochemistry” Understanding how DHT works is important for diagnosing and treating hormone-related disorders.
26 citations
,
July 2021 in “International journal of adolescent medicine and health” New treatments for PCOS are improving fertility and managing symptoms better.
4 citations
,
December 2022 in “International Journal of Molecular Sciences” Zinc is crucial for skin health and treating various skin disorders.
1 citations
,
February 2013 in “InTech eBooks” Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
November 2022 in “The Journal of Clinical Endocrinology and Metabolism” Postmenopausal hyperandrogenism, a condition with symptoms like increased hair growth and acne, is usually caused by PCOS but can also be due to other factors. It's diagnosed by checking testosterone levels and treated either by removing the adrenal tumor or through antiandrogen therapy.
1 citations
,
November 2022 in “International journal of trichology” A girl with a rare skin condition improved after one month of treatment with acitretin.
December 2025 in “Cell Communication and Signaling” Minoxidil may help treat myelodysplastic syndrome without harming normal blood cell production.
October 2023 in “Journal of dermatological science” New mutations in MBTPS2 reduce its function and cause IFAP syndrome with unusual symptoms.
December 2012 in “Expert review of dermatology” New findings suggest the protein linked to Birt–Hogg–Dubé syndrome is important in cell signaling and could affect treatment understanding.
11 citations
,
December 2017 in “Orphanet Journal of Rare Diseases” A new mutation in the ST14 gene broadens the understanding of ichthyosis-hypotrichosis syndrome.
42 citations
,
July 2015 in “Journal of The American Academy of Dermatology” 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.
Zinc, chromium, and magnesium levels in hair might indicate metabolic health.
October 2023 in “The American Journal of Gastroenterology” Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” Suppressing the HGPS mutation may improve symptoms and suggest reversibility.
86 citations
,
May 2002 in “Journal of Investigative Dermatology” A new keratin, hK6irs1, is found in all layers of the hair follicle's inner root sheath.
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.
March 2023 in “International journal of integrated medical research” Keratosis pilaris is a common skin condition where hair follicles get clogged with keratin, mostly on the arms and thighs.
June 2017 in “Experimental dermatology” Skin has a larger surface area than thought, certain skin cells improve skin flap survival, better trials for skin conditions in children are needed, Stevens-Johnson syndrome rates vary by age and race, and better skin barrier function may reduce inflammation in the elderly.
1 citations
,
September 2011 in “Journal of the American Geriatrics Society” A potential genetic link between Werner syndrome and kidney disease was suggested.
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.
August 1996 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that PCOS in adolescents is complex and requires comprehensive care to manage its symptoms and associated health risks.
19 citations
,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
3 citations
,
September 2022 in “Cureus” Platelet-rich plasma shows promise for treating various female reproductive health issues but requires more research.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
5 citations
,
February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” Rapamycin may help treat Leigh syndrome by targeting protein kinase C.
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.
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.
October 2014 in “Transfusion Clinique et Biologique” Iron deficiency can cause fatigue, exercise intolerance, and cognitive issues, even without anemia.
3 citations
,
May 2012 in “BMC Endocrine Disorders” Early diagnosis and hormone therapy can significantly improve outcomes for post-partum pituitary insufficiency in resource-limited settings.