2 citations,
December 2020 in “Frontiers in genetics” Researchers found genes linked to feather growth speed in Shouguang chickens, highlighting two genes that might explain differences in feathering.
29 citations,
November 2022 in “Nature Medicine” Genetic variations greatly affect individual metabolism and can impact health and disease risk.
24 citations,
December 2018 in “Inflammation and Regeneration” Phospholipase A2 enzymes play key roles in skin health and disease.
4 citations,
December 2013 in “The Journal of Dermatology” A new mutation in the K6b gene caused a girl's late-appearing nail condition.
September 2022 in “JAAD case reports” The man has a genetic skin condition called pachyonychia congenita.
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.
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.
12 citations,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
April 2020 in “Journal of the Endocrine Society” A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
119 citations,
November 2016 in “American journal of human genetics” Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
6 citations,
September 2015 in “Journal of Investigative Dermatology” Using special RNA to target a mutant gene fixed hair problems in mice.
67 citations,
November 2002 in “Journal of The American Academy of Dermatology” The document concludes that careful evaluation is key to diagnose and treat women with hair loss, with tests for thyroid, iron, and hormones as needed.
5 citations,
January 2015 in “Dermatology” The report suggests that the same underlying issue in blood vessel support may cause angiokeratomas on both the scrotum and eyelids.
232 citations,
December 2005 in “Andrology” PCOS is caused by both genetics and environmental factors like diet and obesity.
170 citations,
December 2009 in “Histopathology” The conclusion is that accurate diagnosis of different types of hair loss requires good teamwork between skin doctors and lab experts.
12 citations,
November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.
8 citations,
September 2015 in “Clinics in Dermatology” Hair loss in children is diagnosed and treated differently than in adults, with different common causes and a focus on less invasive methods.
694 citations,
April 2000 in “Nature genetics” Msx2 deficiency in mice leads to bone growth and organ development problems.
36 citations,
December 2014 in “F1000 prime reports” The document concludes that Hidradenitis suppurativa is often underdiagnosed, lacks definitive treatment, and requires better awareness and management strategies.
2 citations,
January 2022 in “International journal of trichology” Eruptive vellus hair cysts are often missed in diagnoses.
41 citations,
May 2020 in “Frontiers in immunology” Hidradenitis suppurativa might be a type of autoinflammatory skin disease.
2 citations,
December 2023 in “International journal of molecular sciences” Understanding keratinization is crucial for treating skin conditions like ichthyoses and psoriasis.
March 2022 in “IntechOpen eBooks” Botulinum Neurotoxin-A can treat acne, oily skin, rosacea, hair loss, prevent scars, relieve nerve pain, reduce excessive sweating, and manage psoriasis, but more trials are needed to confirm its effectiveness.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
249 citations,
November 2003 in “Clinical endocrinology” Insulin resistance is a key factor in polycystic ovary syndrome, but genetics may also contribute.
May 2010 in “Current Women's Health Reviews” The document concludes that early diagnosis and treatment of PCOS in teenagers is important for managing symptoms and preventing long-term health 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.
12 citations,
January 2013 in “Indian Journal of Dermatology” Monilethrix is a rare genetic hair disorder that's hard to treat.
4 citations,
January 2013 in “International Journal of Trichology” Monilethrix has no effective treatment, but avoiding hair trauma helps manage it.