17 citations
,
August 2012 in “Journal of Medical Genetics” A new mutation in the XEDAR gene might cause a rare skin condition called hypohidrotic ectodermal dysplasia.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
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 2021 in “Molecular genetics & genomic medicine” The study found two new mutations in a Chinese patient with severe biotinidase deficiency.
3 citations
,
October 2011 in “JAT. Journal of applied toxicology/Journal of applied toxicology” Doxazosin mesylate and saw palmetto cause genetic changes in fruit flies.
2 citations
,
August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” A mutation in the KRT82 gene is significantly associated with Alopecia Areata.
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.
25 citations
,
December 2018 in “Human Molecular Genetics” The document concludes that certain mutations may contribute to the inflammation in hidradenitis suppurativa and suggests that targeting TNFα could be a treatment strategy.
November 2009 in “Journal of Pediatric Nursing” Nonclassic congenital adrenal hyperplasia is a common genetic disorder that can cause a range of symptoms and requires personalized treatment.
148 citations
,
May 2012 in “The American Journal of Human Genetics” Cantú syndrome is caused by mutations in the ABCC9 gene.
September 2025 in “Frontiers in Immunology” Atopic dermatitis and alopecia areata share immune and genetic factors, and targeted therapies may help both.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
29 citations
,
January 2003 in “KARGER eBooks” HVDRR is caused by VDR gene mutations, leading to vitamin D resistance, treatable with high calcium doses, but alopecia remains permanent.
February 2023 in “Cosmoderma” An infant with complete hair loss was diagnosed with a genetic disorder affecting hair growth.
August 2016 in “Journal of the American Academy of Dermatology” The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
43 citations
,
June 2018 in “Clinics in dermatology” People with atopic dermatitis are more likely to develop other skin conditions due to shared genetics and immune pathways.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
103 citations
,
March 2011 in “PLoS Biology” Birds can lose neck feathers due to a genetic change that increases a gene's activity, helping them adapt to heat.
4 citations
,
January 2018 in “International Journal of Trichology” A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A child with skin and tooth symptoms was found to have a genetic mutation causing cardiocutaneous syndrome, leading to heart problems.
25 citations
,
August 2006 in “Human Reproduction” Oral contraceptives lower testosterone levels in women, especially those with certain genetic traits, and may be linked to increased breast cancer risk.
21 citations
,
January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
20 citations
,
December 1999 in “Journal of Investigative Dermatology” Mutations in the hHb6 gene cause the hair disorder monilethrix.
12 citations
,
July 2016 in “British journal of dermatology/British journal of dermatology, Supplement” Different hair fiber development might explain why hair loss severity varies in patients with a specific genetic mutation, and treatments that thicken hair could help.
5 citations
,
May 2017 in “Journal of dermatological science” The combined treatment effectively managed severe skin issues in Olmsted syndrome.
2 citations
,
May 2023 in “Journal of Advanced Research” Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
2 citations
,
April 2013 in “Expert Review of Endocrinology & Metabolism” Identifying nonclassic congenital adrenal hyperplasia and carriers of CYP21 mutations is challenging, and genetic counseling is recommended due to their prevalence.
November 2025 in “Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin” Sporadic trichoblastic neoplasms generally don't recur or spread, with one case showing a specific genetic fusion.
June 2025 in “British Journal of Dermatology” A rare skin condition in a boy is likely due to a specific genetic mutation pattern.