January 2014 in “Elsevier eBooks” The study concluded that genetic mutations affect human hair diseases and identified key genes and pathways involved in hair growth and cycling.
October 2024 in “Journal of the Endocrine Society” A rare genetic mutation causes resistance to vitamin D, leading to severe rickets and requiring high doses of calcium and vitamin D for treatment.
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.
99 citations,
December 2010 in “Journal of The European Academy of Dermatology and Venereology” The document concludes that certain genetic mutations and dietary factors are involved in acne development, and treatments like isotretinoin and diet changes can help manage it.
87 citations,
March 2014 in “Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids” Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
36 citations,
January 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” The document concludes that understanding genetic mutations in the PI3K-AKT-mTOR pathway can lead to better diagnosis and treatment for certain genetic skin disorders.
36 citations,
July 2014 in “Neuromuscular Disorders” A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
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.
January 2022 in “IntechOpen eBooks” Some lesser-known causes of PCOS include autoimmune issues, genetic mutations, and changes in the body's microbiome.
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
January 2014 in “Pathology” The document concludes that understanding nail anatomy is key for diagnosing nail diseases, early signs of nail melanoma may allow for less aggressive treatment, and specific genetic mutations are important in thyroid cancer prognosis and treatment.
November 2009 in “Medical & surgical dermatology” The document concludes that Borrelia afzelii causes a skin condition in France, a gene is linked to hair loss in Caucasian women, and various genetic mutations affect skin diseases.
14 citations,
December 2010 in “Journal of human genetics” A Japanese patient with IFAP syndrome had a severe MBTPS2 gene mutation but showed milder symptoms than previously observed cases.
11 citations,
December 2013 in “Clinical and experimental dermatology” A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
5 citations,
January 2015 in “Case reports in medicine” A baby was diagnosed with IFAP syndrome due to a new genetic mutation, showing severe skin and developmental issues.
2 citations,
December 2013 in “Journal of dermatology” A specific gene mutation causes a rare hair loss condition in a Chinese patient.
1 citations,
August 2012 in “Journal der Deutschen Dermatologischen Gesellschaft” A woman's hyperandrogenism was caused by a genetic mutation leading to non-classic adrenogenital syndrome.
October 2023 in “Pediatric dermatology” Middle Eastern patients with epidermolysis bullosa show specific genetic mutations linked to different types of the disease.
June 2023 in “GSC Advanced Research and Reviews” Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
July 2001 in “APMIS. Acta pathologica, microbiologica et immunologica Scandinavica./APMIS” Male children's genital development issues can be caused by genetic mutations or environmental factors affecting hormone action.
2 citations,
April 2018 in “Journal of Investigative Dermatology” Intralesional chemotherapy with 5-fluorouracil and methotrexate may worsen keratoacanthoma-type skin cancer in transplant patients.
1 citations,
September 2023 in “Frontiers in Genetics” A heterozygous mutation in HTRA1 can cause severe CARASIL symptoms.
111 citations,
May 2001 in “Human reproduction update” Insufficient androgen action in male fetuses can cause genital development issues due to genetic mutations or environmental chemicals.
31 citations,
June 2011 in “Movement Disorders” The document describes a woman with familial Parkinson's disease due to a genetic mutation, showing severe symptoms and poor response to treatment, and suggests finasteride may help reduce symptoms in Tourette syndrome.
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.
1 citations,
November 2017 in “Expert opinion on orphan drugs” Scientists now better understand the genetics of hypohidrotic ectodermal dysplasia, leading to more accurate diagnoses and potential new treatments.
4 citations,
May 2011 in “Movement Disorders” A woman's unique dementia was misdiagnosed, a genetic mutation increases Parkinson's risk with age, and finasteride may help with Tourette syndrome.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
April 2020 in “International journal of research in dermatology” An 8-year-old girl has a rare, irreversible hair loss condition caused by a genetic mutation.
78 citations,
October 2020 in “Experimental Dermatology” Hidradenitis suppurativa is caused by genetic factors, inflammation, bacteria, hormones, and lifestyle factors like obesity and smoking.