5 citations
,
January 2022 in “Journal of Clinical Medicine” Dermoscopy and trichoscopy are useful for diagnosing skin signs in Dermatomyositis.
1 citations
,
June 2025 in “Pigment Cell & Melanoma Research” SASH1 gene mutations are linked to various inherited skin pigmentation disorders.
19 citations
,
March 1988 in “International Journal of Dermatology” Hair shaft dysplasias are abnormal hair conditions that can be inherited or acquired and may signal other health issues, with limited treatment options available.
March 2023 in “Journal of Cosmetic Dermatology” A genetic variant linked to hair thinning in Japanese women was found.
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
2 citations
,
April 2008 in “PubMed” A gene mutation causes monilethrix in a Chinese family.
81 citations
,
March 1985 in “Journal of Clinical Investigation” Measuring 24-OHase induction helps identify defects in vitamin D processing and predict treatment response.
January 2026 in “JCEM Case Reports” Genetics may play a significant role in gender dysphoria.
234 citations
,
November 2009 in “American journal of human genetics” Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
99 citations
,
May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
1 citations
,
September 2024 in “Journal of the American Academy of Dermatology” Farudodstat may effectively treat alopecia areata without harmful side effects.
The treatment was not recommended due to limited effectiveness and significant side effects.
87 citations
,
July 2009 in “Journal of Cell Science” Deleting the CDSN gene causes severe skin and hair problems, leading to death.
May 2023 in “Skin research and technology” A DNA aptamer helps promote hair growth by enhancing a key cell growth signal in hair follicle cells.
2 citations
,
April 2025 in “Small Ruminant Research” South African sheep breeds have diverse genes affecting traits like coat color, horn development, and wool quality.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
15 citations
,
February 2015 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Dermoscopy helps accurately diagnose temporal triangular alopecia, avoiding unnecessary treatments.
12 citations
,
January 1994 in “Dermatology” The patient's hair had unique damage and a lower sulfur-to-nitrogen ratio compared to relatives, but not compared to healthy controls.
1 citations
,
April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
1 citations
,
January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
November 2025 in “The Journal of Immunology” BTNL2 helps protect hair follicles from immune attacks, which could aid in treating alopecia areata.
7 citations
,
July 2020 in “Immunological Investigations” The rs231775 genetic variant is linked to a higher risk and severity of Alopecia Areata in males.
83 citations
,
August 2014 in “PLoS ONE” All adults have Demodex mites, which vary by region.
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.
467 citations
,
October 2014 in “European Journal of Endocrinology” The European Society of Endocrinology advises individualized long-term management for PCOS, focusing on lifestyle changes, accurate diagnosis, and treatments for associated health risks and symptoms.
340 citations
,
September 2014 in “PLOS Genetics” The study found that in Latin America, ancestry varies by location, influences physical traits, and affects how people perceive their own heritage.
280 citations
,
July 2018 in “Antioxidants” Treatments that reduce oxidative stress and fix mitochondrial problems may help heal chronic wounds.
129 citations
,
May 2015 in “Cell Stem Cell” Different types of stem cells exist within individual skin layers, and they can adapt to damage, transplantation, or tumor growth. These cells are regulated by their environment and genetic factors. Tumor growth is driven by expanding, genetically altered cells, not long-lived mutant stem cells. There's evidence of cancer stem cells in skin tumors. Other cells, bacteria, and genetic factors help maintain balance and contribute to disease progression. A method for growing mini organs from single cells has been developed.
62 citations
,
April 2008 in “Neurobiology of aging” Scientists found a gene in mice that causes early hearing loss.
53 citations
,
January 2009 in “Journal of Investigative Dermatology” UVB radiation harms hair growth and health, causing cell death and other changes in human hair follicles.