4 citations,
September 2015 in “JAAD case reports” Substance P may play a role in the inflammation seen in keratosis follicularis spinulosa decalvans.
1 citations,
March 2023 in “European Journal of Human Genetics” The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.
152 citations,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” A new mutation in the Connexin 26 gene was found in a patient with KID syndrome, expanding the known disorders linked to this gene.
3 citations,
October 2021 in “Dermatologic Therapy” PRP with microneedling improves hair growth and patient satisfaction more than injections for androgenetic alopecia.
3 citations,
March 2019 in “Case Reports” A man with myotonic dystrophy type 1 had 28 skin cancers, suggesting a link between the disease and skin cancer, emphasizing the need for sun protection and regular skin checks.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
January 2016 in “Dermatology online journal” A 15-year-old girl has a benign skin tumor on her neck.
January 2015 in “American journal of medical and biological research” 60 citations,
July 2014 in “Autophagy” The protein FLCN is involved in cellular cleanup and is regulated by ULK1.
23 citations,
March 2017 in “JAAD case reports” The document suggests a possible link between FAM111B gene mutations and increased cancer risk, particularly pancreatic cancer.
13 citations,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
3 citations,
October 2021 in “Journal of Cosmetic Dermatology” Trichoscopy helps tell apart Frontal Fibrosing Alopecia and Lichen planopilaris by showing different hair and scalp features.
1 citations,
January 2022 in “Clinical Cases in Dermatology” A woman with CCCA has hair loss due to factors like straighteners and tight hairstyles, and treatments include steroids and avoiding certain hair products.
July 2024 in “Journal of Dermatological Treatment” Botanical extracts and Minoxidil improved hair condition in a boy with a genetic disorder.
November 2022 in “Orphanet Journal of Rare Diseases” Long-term use of androgens can help manage Hereditary Angioedema (HAE) but may cause serious side effects, so alternative treatments with fewer side effects are being considered.
86 citations,
January 1996 in “Clinics in dermatology” Hair can be damaged by daily routines, but protein-based products can protect and improve it.
49 citations,
January 2006 in “Developmental Dynamics” Noggin gene inactivation causes skeletal defects in mice, varying by genetic background.
20 citations,
November 2014 in “JAMA dermatology” The 810-nm diode laser improves skin texture in keratosis pilaris but not redness.
11 citations,
January 2010 in “Springer eBooks” 3 citations,
January 2022 in “Pharmaceutics” Nanostructured delivery systems could potentially improve hair loss treatment by targeting drugs to hair follicles, reducing side effects and dosage, but the best size, charge, and materials for these systems need further investigation.
2 citations,
January 2014 in “Indian Journal of Critical Care Medicine” Shock can be an early sign of Autoimmune Polyendocrine Syndrome Type II.
2 citations,
October 2018 in “Skin appendage disorders” A boy's hair that was frizzy and hard to comb returned to normal after 9 months, possibly due to genetic factors.
1 citations,
September 2021 in “Dermatologic Therapy” Botulinum toxin injections effectively relieve pain from cutaneous leiomyomas.
A young girl had a rare neck cyst removed and needs careful monitoring for related health issues.
Researchers made a mouse model with curly hair and hair loss by editing a gene.
March 2023 in “International journal of trichology” Six genetic conditions are often linked to complete scalp hair loss in children.
July 2005 in “Indian Journal of Dermatology” 694 citations,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
132 citations,
August 2008 in “Development” Dlx3 is essential for hair growth and regeneration.
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.