20 citations,
July 2013 in “European Journal of Oral Sciences” A new PAX9 gene mutation causes missing teeth and hair problems, but not skin or nail issues.
20 citations,
February 2004 in “Clinical and Experimental Ophthalmology” Eye exams are crucial for kids with 13q deletion syndrome, tamoxifen can cause vision loss, Propecia may lead to cataracts, Lipoid Proteinosis causes skin bumps, and OCT is useful for diagnosing macular diseases.
19 citations,
April 1995 in “Clinical Genetics” Two siblings were the first reported cases of inheriting both eye coloboma and loose anagen syndrome together.
16 citations,
July 2021 in “Histopathology” New markers and pathways have been found in skin tumors, helping better understand and diagnose them.
13 citations,
January 2012 in “Dermatology” Eruptive vellus hair cysts are rare, benign skin lesions that are hard to treat.
13 citations,
April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
12 citations,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
9 citations,
February 2004 in “Clinical and Experimental Ophthalmology” The document discusses various eye conditions and their treatments, including a rare eye cancer in a baby, vision loss from a cancer drug, cataracts from a baldness treatment, a rare skin disorder, and a specific type of eye disease diagnosed with a special imaging technique.
8 citations,
December 2020 in “Scientific reports” Selective breeding caused the unique curly hair in Mangalitza pigs.
2 citations,
January 2022 in “International journal of trichology” Eruptive vellus hair cysts are often missed in diagnoses.
2 citations,
December 2016 in “Journal of Pakistan Association of Dermatology” Almost 40% of women aged 20-70 in Isfahan had hair loss, with it being more severe in those with low ferritin levels.
2 citations,
August 1994 in “Archives of dermatology” A 19-month-old boy with a rare hair disorder showed mild improvement with treatment, but his family chose gentle hair care due to limited success.
1 citations,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
1 citations,
January 2018 in “Acta dermato-venereologica” A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
1 citations,
June 2016 in “Medicina” Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
1 citations,
October 2006 in “Journal of Family Planning and Reproductive Health Care” The contraceptive implant Implanon may be linked to hair loss, but the reported case of alopecia could be unrelated to the implant.
June 2023 in “British Journal of Dermatology” Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
November 2022 in “Journal of Investigative Dermatology” Most Recessive Dystrophic Epidermolysis Bullosa patients with a specific mutation likely have Sephardic ancestry from about 500 years ago.
February 2022 in “Research Square (Research Square)” A protein made in a plant stopped hair growth in mice.
June 2018 in “CRC Press eBooks” Foals can have various skin issues, some genetic, immune-related, or due to infections and allergies.
January 2015 in “Nasza Dermatologia Online” Monilethrix causes fragile, patchy hair loss.
April 2012 in “Informa Healthcare eBooks” Temporal triangular alopecia is a lifelong condition with hairless patches on the side of the head that may be present from birth.
Iron supplements may reverse premature graying in iron-deficient individuals; ingrown nails are common in diabetics with certain risk factors; topical finasteride may reduce scalp DHT as effectively as oral finasteride; monilethrix treatment is challenging but some medications can help.
March 2013 in “Journal of pediatric nursing” The case emphasizes the need for careful screening in children for insulin resistance and related conditions.
15 citations,
July 2002 in “Clinical and Experimental Dermatology” Hair microscopy is useful for diagnosing certain hair loss conditions but has limitations and must be interpreted carefully.
29 citations,
June 2017 in “Journal of Inherited Metabolic Disease” High-content screening is useful for finding new treatments for rare diseases and has led to FDA-approved drugs.
20 citations,
December 2011 in “Journal of inherited metabolic disease” Valproic acid treatment increases a specific acid in urine by blocking an enzyme, possibly causing skin rash and hair loss.
19 citations,
July 2015 in “Journal of inherited metabolic disease” Methionine restriction works better than betaine for treating CBS deficiency symptoms in mice.
35 citations,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
1 citations,
January 2017 in “Social Science Research Network” The document suggests creating a secure database for indigenous knowledge and recommends that the TKDL actively fight patents that slightly alter traditional knowledge.