1 citations,
March 2023 in “Frontiers in Cardiovascular Medicine” A specific gene variant is linked to heart disease, increased heart muscle, curly hair, and thick skin on palms and soles.
10 citations,
September 2016 in “Journal of cutaneous medicine and surgery” Patients on dabrafenib and trametinib for melanoma often experience skin side effects.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
February 2023 in “Research Square (Research Square)” Blocking IL-17 can reduce skin inflammation in a mouse model of pityriasis rubra pilaris.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” New RIPK4 gene mutations were found to cause a type of skin and limb birth defect.
12 citations,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
5 citations,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
3 citations,
January 2019 in “Journal of Dermatology” The p.P25L mutation in the KRT5 gene causes a rare skin condition that worsens over time and may lead to hair loss starting in young adulthood.
11 citations,
January 2018 in “Jaypee's international journal of clinical pediatric dentistry” Papillon-Lefèvre Syndrome causes early tooth loss and skin issues, needing early dental diagnosis.
March 2024 in “International journal of molecular sciences” Three specific genetic variants cause severe skin issues in children with EBS, highlighting the need for early genetic screening.
13 citations,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
11 citations,
January 2012 in “International Journal of Trichology” Caffeine may help hair growth in hereditary hair loss.
197 citations,
June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
20 citations,
January 2009 in “International Journal of Dermatology” Hair loss in Clouston's syndrome improved with minoxidil and tretinoin treatment.
1 citations,
June 2017 in “Journal of The American Academy of Dermatology” PRP treatment for hair loss shows promise, with 58% of patients satisfied and most noticing improvement within 6 months.
1 citations,
May 2017 in “Journal of The American Academy of Dermatology” The moisturizer with phytol improved skin texture and reduced fine wrinkles better than the moisturizer without it.
April 2018 in “Nasza Dermatologia Online” People with Down's syndrome are more likely to have syringomas.
May 2017 in “Journal of The American Academy of Dermatology” A woman with a skin disorder was found to have hepatitis C, which may be linked, and was safely treated with methotrexate.
May 2017 in “Journal of The American Academy of Dermatology” PLAU and SerpinB2 affect cell death differently in various forms of leprosy and could be targets for new treatments.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
3 citations,
June 2022 in “European journal of human genetics” A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
147 citations,
January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
42 citations,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
31 citations,
August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
23 citations,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
7 citations,
January 2012 in “International Journal of Trichology” A man with Woolly Hair Syndrome had very curly, fragile hair, and doctors used a special scalp examination to diagnose him without invasive tests.
5 citations,
September 2015 in “Nepalese journal of ophthalmology” An 11-year-old girl with a rare skin disorder also had cornea issues and dry eye, needing careful management.
4 citations,
August 2016 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” Using cetirizine on the skin and taking vitamin D can help increase hair growth in children with hair loss from ectodermal dysplasia.
Newer retinoid drugs are effective for skin conditions but have significant side effects.