12 citations,
June 2016 in “Reviews in Endocrine and Metabolic Disorders” Some skin diseases and their treatments can negatively affect male fertility.
11 citations,
September 2021 in “American Journal of Medical Genetics Part A” Four new cases of Bachmann-Bupp syndrome suggest potential for targeted treatment.
4 citations,
July 2019 in “Clinics in Dermatology” The document concludes that while white skin, nail, and mucosa diseases increase skin cancer risk, they are generally harmless, especially compared to darker pigmentation conditions.
December 2023 in “Research Square (Research Square)” People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.
3 citations,
November 2022 in “The Egyptian Rheumatologist” Macrophage activation syndrome can be a deadly first sign of systemic lupus erythematosus.
47 citations,
March 2016 in “Journal of dermatology” Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
30 citations,
September 2017 in “Clinics in Dermatology” Acanthosis nigricans is a skin condition that may indicate a higher risk for insulin resistance and type 2 diabetes, and more research is needed to understand and treat it.
The document concludes that Syndromes of Severe Insulin Resistance are rare disorders with limited treatment options.
6 citations,
July 2011 in “British Journal of Dermatology” A man with KID syndrome developed a rare cancer in a long-term skin infection.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
25 citations,
November 2018 in “Cell reports” The study concluded that specific proteins are necessary to maintain the structure that holds epithelial cells tightly together.
9 citations,
August 2021 in “Journal of clinical medicine” Pili torti is a rare condition where hair is twisted and breaks easily, often linked to genetic disorders or other health issues.
8 citations,
June 2021 in “International Journal of Molecular Sciences” Exosomes from umbilical cord cells fix hearing loss and damaged ear hair cells in mice.
1 citations,
September 2015 in “Clinics in Dermatology” The guide helps doctors diagnose hair problems by suggesting a thorough patient history, physical exams, and various diagnostic tools.
74 citations,
July 2008 in “Journal of Dermatological Case Reports” Trichoscopy is a quick and easy way to diagnose most genetic hair problems without invasive methods.
1 citations,
November 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” Signals from skin cells controlled by Rac proteins help turn certain precursor cells into white fat cells.
3 citations,
May 2018 in “InTech eBooks” Animal models, especially mice, are essential for advancing hair loss research and treatment.
8 citations,
July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
4 citations,
December 2020 in “Mammalian genome” Harlequin mutant mice have hair loss due to low AIF protein levels and retroviral element activity.
15 citations,
September 2018 in “Hearing research” Rapamycin reduces age-related hearing cell loss in mice, but acarbose does not.
33 citations,
January 2011 in “Elsevier eBooks” Systemic Lupus Erythematosus has varied symptoms and is hard to diagnose, affecting many body parts and requiring careful clinical judgment.
April 2015 in “Journal of Evolution of Medical and Dental Sciences” People with autoimmune skin diseases often have hearing problems and should get their hearing checked early.
21 citations,
July 2022 in “Orphanet journal of rare diseases” New treatments for ichthyosis, like protein replacement and gene therapy, show promise and may become standard care.
5 citations,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
75 citations,
May 2013 in “Journal of the American Academy of Dermatology” Zinc deficiency in children can cause skin issues and can be serious if not diagnosed and treated properly.
January 2024 in “Wiadomości Lekarskie” Robotic hair transplantation with AI offers more reliable, precise, and efficient hair restoration.
March 2021 in “Indian Journal of Case Reports” A young woman with late-stage Vogt-Koyanagi-Harada disease was successfully treated at a hospital.
17 citations,
September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
44 citations,
January 2005 in “Dermatology” Hair problems can be caused by genetics or the environment, and treatment should focus on the cause and reducing hair damage.
23 citations,
September 2014 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Laser treatments are the most effective for porokeratotic adnexal ostial nevus.