76 citations,
June 2015 in “Journal of biomedical science” Mutations in Gasdermin A3 cause skin inflammation and hair loss by disrupting mitochondria.
62 citations,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
56 citations,
December 2011 in “Steroids” The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
52 citations,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
47 citations,
January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” Premature graying of hair may suggest health issues and currently lacks effective treatments.
42 citations,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
42 citations,
January 2007 in “Pediatric dermatology” Low-potency steroids can cause serious side effects in people with skin conditions like Netherton syndrome.
37 citations,
May 2016 in “JAAD case reports” Oral minoxidil shows promise in treating monilethrix-related hair loss.
31 citations,
January 2014 in “Journal of endocrinological investigation” Woodhouse-Sakati syndrome often causes sexual development issues, hair loss, learning disabilities, deafness, muscle contractions, limb pain, and diabetes.
30 citations,
January 2000 in “Dermatologic Clinics” Finasteride and minoxidil are effective FDA-approved treatments for androgenetic alopecia.
24 citations,
July 1983 in “Clinical and Experimental Dermatology” Tigason improved hair growth in a boy with monilethrix without side effects.
22 citations,
March 2000 in “Clinics in Dermatology” Many treatments for hair loss lack proper testing and FDA approval, so their effectiveness is uncertain.
19 citations,
January 1997 in “Dermatologic Clinics” Most treatments for hair loss in 1997 were not effective for most people, and maintaining hair growth was difficult.
18 citations,
August 2018 in “The FASEB journal” Rabbits lacking the Hoxc13 gene show similar hair and skin issues to humans with ECTD-9, making them good for research on this condition.
18 citations,
February 2010 in “Odontology” The document concludes that Rabson-Mendenhall syndrome requires novel treatments for insulin resistance and emphasizes the importance of dental care in affected patients.
16 citations,
March 2013 in “The Journal of Dermatology” Low TRPS1 expression in skin and hair cells is linked to hair problems in Trichorhinophalangeal syndrome.
15 citations,
February 2015 in “Cell & tissue research/Cell and tissue research” P-cadherin is important for hair growth and health, and its problems can cause hair and skin disorders.
14 citations,
July 2001 in “American Journal of Human Genetics” Haplogroup X found in Altaian population supports Amerindian origin.
13 citations,
January 2019 in “Endocrine journal” Dihydrotestosterone treatment can help penis growth in boys with 5α-reductase deficiency but doesn't fully normalize size after puberty.
12 citations,
May 2001 in “British journal of dermatology/British journal of dermatology, Supplement” A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
9 citations,
June 2000 in “Journal of The American Academy of Dermatology” Mutation in hairless gene may increase hair loss risk.
9 citations,
October 1988 in “Clinics in Dermatology” Hair loss is caused by genetics and hormones, diagnosed through examination and biopsy, and treated with medications or surgery.
8 citations,
August 2013 in “Pediatric Dermatology” Loose Anagen Hair Syndrome is found in black-haired Indian children and is often missed, especially in boys.
7 citations,
January 2020 in “Journal of Dermatology” Cantu syndrome, which causes excessive hair growth and skin issues, is due to a mutation in the ABCC9 gene, and understanding this could help develop new treatments for hair diseases.
7 citations,
June 2016 in “Bone Research” A Chinese family had a child with a specific gene mutation causing vitamin D-resistant rickets, but the child improved with calcium and low-dose calcitriol.
6 citations,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
6 citations,
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” An 11-year-old Greek girl was diagnosed with a rare genetic disorder, highlighting the importance of genetic testing and family history.
5 citations,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” The research linked PLCD1 gene variants to the development of trichilemmal cysts.
5 citations,
May 2019 in “Hormone and Metabolic Research” Women with nonclassic 21-hydroxylase deficiency can have successful pregnancies through IVF, with certain factors affecting their chances.
5 citations,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.