47 citations,
February 2015 in “European Journal of Clinical Investigation” The review suggests thorough evaluation and genetic testing for proper diagnosis and treatment of Chrousos syndrome.
42 citations,
June 2015 in “Gynecological Endocrinology” Women with PCOS often have mood disorders and a lower quality of life, and treatment should focus on both physical and mental health.
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.
16 citations,
April 2012 in “Gynecological Endocrinology” Older obese women with PCOS have higher cardiovascular and metabolic risks despite lower androgen levels.
15 citations,
April 2003 in “Journal of Dermatological Science” Gene differences may affect baldness treatment response in Korean men.
9 citations,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
8 citations,
August 1997 in “Australasian Journal of Dermatology” Most HIV patients develop skin symptoms that can indicate the stage of their disease.
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.
November 2017 in “Elsevier eBooks” PCOS is a genetic disorder affecting women's reproductive health, with treatments focused on symptoms like insulin resistance and fertility.
May 2009 in “The American Journal of Dermatopathology” Mast cells play a significant role in hair loss conditions like male pattern hair loss and alopecia areata.
271 citations,
June 2013 in “Human Reproduction” PCOS is common among Chinese women of reproductive age and linked to serious metabolic and reproductive issues, especially in obese women.
72 citations,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
51 citations,
November 2011 in “Reproductive Biology and Endocrinology” About 13% of women had idiopathic hirsutism and 8.5% had polycystic ovary syndrome in a group of Iranian women.
48 citations,
January 2011 in “Hormone Research in Paediatrics” The conclusion is that genetic changes in the glucocorticoid receptor can lead to conditions affecting stress response, immunity, and metabolism, requiring personalized treatment.
48 citations,
November 1992 in “International Journal of Dermatology” Toxic epidermal necrolysis is a severe skin reaction often linked to drugs, requiring careful medication use and supportive care.
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.
13 citations,
January 2018 in “BioMed Research International” Scalp involvement is common in pemphigus and can lead to hair loss, with the severity of scalp lesions linked to overall disease severity.
11 citations,
May 2011 in “World Journal of Pediatrics” The document emphasizes the importance of correctly identifying and classifying genetic hair disorders to help diagnose related health conditions.
5 citations,
January 2016 in “Journal of The American Academy of Dermatology” Skin doctors should know about skin and kidney disease links to prevent serious kidney problems.
5 citations,
September 2013 in “The Journal of Dermatology” Researchers found a new mutation in the HR gene causing hair loss and skin bumps in a Pakistani family.
3 citations,
June 2023 in “European heart journal open” Women with irregular periods have a higher risk of heart disease.
2 citations,
January 2019 in “Annals of Dermatology” Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
1 citations,
January 2022 in “Advances in Dermatology and Allergology” Most patients with cutaneous lupus erythematosus in Bangladesh are young women, with chronic forms and photosensitivity being common.
1 citations,
April 2019 in “JAAD case reports” A woman with lymphoma had a rare skin rash on her scalp and forehead, which was hard to diagnose but responded well to treatment.
1 citations,
August 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” A new mutation in the TMEM173 gene and a risk allele in IFIH1 cause a unique set of immune-related symptoms.
January 2025 in “Frontiers in Immunology” IVIG therapy significantly improved symptoms in a patient with APS-2 and SPS.
The document concludes that the development of certain tumors is influenced by genetic background and that a specific gene modification can lead to tumor regression and reduced growth.
November 2021 in “Chattagram Maa-O-Shishu Hospital Medical College Journal” Most patients with Cutaneous Lupus Erythematosus are young females, and dermatologists play a key role in diagnosis.
July 2020 in “Nepalese journal of ophthalmology” A boy with progeria had eye problems and signs of aging like hair loss and skin wrinkling.
The article concludes that better diagnosis and management of Polycystic Ovarian Syndrome are needed to improve women's health and prevent related diseases.