36 citations
,
March 2019 in “European Journal of Human Genetics” The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
15 citations
,
June 2012 in “British Journal of Dermatology” A new mutation in the KRT86 gene causes a hair disorder with variable expression.
21 citations
,
September 1997 in “British Journal of Dermatology” Monilethrix is linked to the type II keratin gene on chromosome 12q13.
September 2017 in “PubMed” Monilethrix is a rare genetic hair disorder with no cure, but low-dose oral minoxidil may help.
4 citations
,
October 2011 in “International Journal of Dermatology” Bardet-Biedl syndrome may include under-recognized skin problems related to its metabolic disturbances.
84 citations
,
April 2002 in “Archives of Dermatology” Loose anagen hair syndrome may be caused by keratin gene mutations.
47 citations
,
December 2019 in “Frontiers in immunology” A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
April 2018 in “Journal of Investigative Dermatology” DNMT3A is crucial for healthy skin and hair growth.
20 citations
,
May 2013 in “International Journal of Molecular Medicine” Researchers found a new gene variant linked to a rare bone disease, which doesn't always cause symptoms in carriers.
7 citations
,
May 2019 in “European Journal of Human Genetics” BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
August 2020 in “Journal of The American Academy of Dermatology” The authors concluded that PRP injections were not significantly effective for treating lichen planopilaris and its variants and should not be used as the only treatment.
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.
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.
November 2025 in “International Journal of Clinical Obstetrics and Gynaecology” PCOS is likely inherited in families, increasing risk for first-degree relatives.
11 citations
,
July 2014 in “Gene” The S250C variant in a gene may cause autoimmunity and immunodeficiency by impairing protein function.
July 2021 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Monilethrix causes different levels of hair loss in family members.
1 citations
,
May 2023 in “Journal of neuroendocrinology” DAVID syndrome is a condition with immune system and hormone deficiencies, needing early diagnosis to avoid serious complications.
15 citations
,
October 2020 in “European journal of pharmaceutics and biopharmaceutics” Caffeine penetrates skin quickly through open hair follicles, but less through closed ones, with levels becoming equal after 22 hours.
Folate salts penetrate skin well and improve wound healing, suggesting potential for skin treatments.
16 citations
,
August 2014 in “Colloids and surfaces. B, Biointerfaces” Lipid-coated silica nanoparticles penetrate human skin more deeply than bare silica nanoparticles.
16 citations
,
November 2020 in “International journal of pharmaceutics” Using longer PEG chains helps nanoparticles penetrate hair follicles better, improving drug delivery for conditions like alopecia.
316 citations
,
June 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” Microspheres about 1.5 micrometers in size can best penetrate hair follicles, potentially reaching important stem cells.
25 citations
,
July 2019 in “Journal of drug delivery science and technology” Researchers created better skin-application menthol capsules that are stable, safe, and penetrate the skin quickly.
14 citations
,
November 2019 in “Materials” Diamond nanoparticles can penetrate skin and reach hair follicles, useful for imaging applications.
July 2022 in “International Journal of Applied Pharmaceutics” The optimized caffeine formula improved hair growth and penetrated all skin layers.
2 citations
,
March 2024 in “Pharmaceutics” The placebo microneedle stamp didn't penetrate skin and caused less pain, but blinding was only effective for those with low skin sensitivity.
55 citations
,
February 2014 in “Journal of Structural Biology” Human hair has a complex, variable structure with a consistent matrix and double-twist pattern.
Deleting Smad4 and PTEN genes in mice causes rapid, invasive stomach cancer.
41 citations
,
September 2007 in “Pediatric emergency care” Oral medication is necessary to treat scalp fungus in children, with griseofulvin being the usual choice.