January 2021 in “SSRN Electronic Journal” The submission argued that CPSO's referral policy undermines doctors' civil liberties and recommended changes to protect conscientious objections.
21 citations
,
April 2014 in “PLoS ONE” A rare gene variant causes hair and nail issues in a family.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
19 citations
,
December 2015 in “European Journal of Human Genetics” A rare ITGB6 gene variant causes intellectual disability, hair loss, and dental issues.
11 citations
,
July 2010 in “European Journal of Dermatology” The condition is linked to chromosome 12, but no mutations were found in the known genes.
7 citations
,
December 2015 in “International Journal of Dermatology” New and known mutations in the hairless gene cause a hair loss condition called Atrichia with papular lesions.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
2 citations
,
November 2022 in “IP Indian journal of clinical and experimental dermatology” Dermoscopic and histopathological features combined can help diagnose Pityriasis versicolor.
January 2011 in “Yearbook of Dermatology and Dermatologic Surgery” Acne and hair loss are not good indicators of hormone imbalance in PCOS, but excessive body hair is.
6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Patients with the same genetic mutation for vitamin D-resistant rickets showed different symptoms but all improved with treatment except for hair loss.
2 citations
,
March 2022 in “Portuguese Journal of Nephrology & Hypertension” A rare EGFR mutation in newborns leads to severe health issues and early death.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
42 citations
,
October 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” Mutations in the KRT85 gene cause hair and nail problems.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.
3 citations
,
January 2013 in “Dermatology” New genetic mutations causing hair loss were found in a Chinese family.
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
Mutations in specific genes cause different types of ectodermal dysplasias.
12 citations
,
September 2011 in “BMJ Case Reports” Quick diagnosis and biotin treatment can dramatically improve biotinidase deficiency symptoms.
1 citations
,
June 2022 in “Curēus” Early detection and multidisciplinary treatment are crucial for managing Papillon-Lefévre syndrome.
1 citations
,
January 1996 in “Aesthetic Plastic Surgery” The tumescent technique makes hair micrografting more comfortable and efficient.
January 2024 in “SAGE Open Medical Case Reports” The brothers have congenital ichthyosis, and the older brother's eye issues are due to different genetic mutations.
January 2001 in “대한피부과학회지” Oral minipulse therapy with betamethasone effectively promotes hair regrowth in alopecia areata with fewer side effects.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” Mutations in the ST14 gene cause skin and hair issues by disrupting important protein processing.
74 citations
,
October 2012 in “The American Journal of Human Genetics” Mutations in the HOXC13 gene cause hair and nail development issues.
67 citations
,
May 2013 in “Therapeutic drug monitoring” Wait 4-5 weeks after drug use before hair testing and cut hair into three segments to confirm single drug exposure.
64 citations
,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” A deficiency in the TTC7A gene causes immune problems, gut issues, and hair loss.
60 citations
,
March 2006 in “Journal of Medical Genetics” A mutation in the KRTHB5 gene causes hair and nail issues.
39 citations
,
January 2012 in “Dermatology” Combining high-dose corticosteroids with methotrexate may be effective and safe for severe alopecia areata.
38 citations
,
January 2013 in “Dermatology” Careful patient selection is key for effective pulse corticosteroid treatment in children with alopecia areata.
30 citations
,
June 2015 in “Dermatologic Surgery” Ultrasound shows 80% of Hidradenitis Suppurativa patients have abnormal hair tracts that may worsen the condition.