7 citations
,
January 2019 in “Australasian Journal of Dermatology” A genetic marker linked to a type of hair loss was found in most patients studied.
12 citations
,
March 2012 in “JEADV. Journal of the European Academy of Dermatology and Venereology/Journal of the European Academy of Dermatology and Venereology” A specific gene mutation in Japanese people can cause varying degrees of hair thinning in adulthood.
9 citations
,
July 2016 in “Genes” Genetic variants in PDE6H and LPAR6 cause vision impairment and hair loss in two Pakistani brothers.
21 citations
,
January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
5 citations
,
February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
February 2026 in “Pediatrics in Review” A newborn with severe low blood sugar due to a genetic issue needed major surgery after standard treatments failed.
November 2022 in “Journal of Investigative Dermatology” NCSTN gene mutation causes abnormal skin cell differentiation and more inflammation, contributing to Hidradenitis Suppurativa.
December 2020 in “Pathology” A man's skin condition and poor diet led to a scurvy diagnosis.
33 citations
,
January 2007 in “Pediatric dermatology” Hair thinning and loss in a girl with a rare metabolic disorder was linked to her condition.
June 2024 in “British Journal of Dermatology” KRT14 gene variants cause dermatopathia pigmentosa reticularis, affecting nails, teeth, and hair.
5 citations
,
March 2023 in “Archives of dermatological research” Increased HIF-1α is linked to the inflammation and severity of hidradenitis suppurativa, suggesting treatments that lower HIF-1α could help.
51 citations
,
January 1997 in “PubMed” GABEB is a less severe skin condition caused by a gene mutation affecting collagen, leading to blisters and other symptoms.
372 citations
,
December 2004 in “Nature Genetics”
14 citations
,
April 2011 in “Journal of the American Academy of Dermatology” Researchers found a gene mutation responsible for a rare hair loss condition.
2 citations
,
July 2022 in “Pediatric dermatology” A toddler with a rash and developmental delays improved after treatment for severe malnutrition caused by a diet lacking in protein.
September 2017 in “Journal of Investigative Dermatology” Loss of COL17A1 causes hair follicle stem cells to age and leads to hair loss.
March 2018 in “Gazi medical journal” Adults with Beta Thalassemia Major are more likely to have skin, hair, and nail disorders.
7 citations
,
August 2021 in “Open Access Macedonian Journal of Medical Sciences” The VDR gene polymorphism does not affect BDNF levels in autoimmune thyroiditis and hypothyroidism patients.
1 citations
,
September 2017 in “Journal of Investigative Dermatology” Blocking a specific enzyme can reduce the negative impact of stress hormones on hair growth cells.
January 2023 in “Endocrine Journal” Treating classic 21-hydroxylase deficiency requires precise glucocorticoid dosing and attention to individual patient needs, with new treatments showing promise.
1 citations
,
November 2024 in “Journal of Investigative Dermatology” Er:YAG laser therapy effectively treats Hailey-Hailey disease, leading to long-term remission and improved quality of life.
July 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Scurvy still occurs today and can be diagnosed by symptoms like gum bleeding and a specific rash, confirmed by low vitamin C levels.
3 citations
,
December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
June 2010 in “Chinese Journal of Dermatology” A new gene mutation is linked to monilethrix in the studied family.
5 citations
,
December 2017 in “The Journal of Dermatology” A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
January 2023 in “Indian dermatology online journal” A child with ectodermal dysplasia-syndactyly syndrome has a new mutation in the NECTIN4 gene.
8 citations
,
April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” Certain genetic changes in the LSS gene cause a rare skin and hair condition.
1 citations
,
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” People with Hidradenitis Suppurativa have less diverse skin bacteria and different bacterial metabolism than healthy individuals.
17 citations
,
January 2011 in “Indian journal of dermatology, venereology, and leprology” A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
41 citations
,
November 2011 in “The Journal of Dermatology” Some hair loss disorders are caused by genetic mutations affecting hair growth.