January 2024 in “Endocrine and metabolic science” Different types of PCOS need specific diagnosis methods and treatments.
5 citations,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
86 citations,
February 2003 in “Journal of The American Academy of Dermatology” New methods improve how we test hair growth treatments, but challenges like slow hair changes and high costs remain.
23 citations,
November 2001 in “Archives of Dermatology” Genetic discoveries are key for understanding, diagnosing, and treating inherited hair and nail disorders.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
209 citations,
March 1989 in “Journal of The American Academy of Dermatology” Interferon alfa-2a is effective for treating cutaneous T cell lymphoma but has significant side effects.
125 citations,
September 2019 in “Journal of Clinical Immunology” Foxp3 is crucial for regulatory T cell function, and targeting these cells may help treat immune disorders.
30 citations,
May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” The document concludes that early diagnosis and treatment are crucial for children with hair loss to prevent permanent damage, although not all conditions can be effectively treated.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” Samcyprone ointment is effective for treating common warts if a sensitization reaction occurs first.
147 citations,
January 2003 in “American journal of clinical dermatology” The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
69 citations,
January 2013 in “Frontiers in Immunology” The FOXN1 gene is crucial for developing immune cells and preventing immune disorders.
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.
46 citations,
June 2018 in “American Journal of Clinical Dermatology” Hair loss is common in lupus patients and can be permanent or reversible, depending on the type, with various treatments available.
15 citations,
September 2018 in “Medicine” Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
12 citations,
May 2001 in “British journal of dermatology/British journal of dermatology, Supplement” A rare benign skin tumor showed unusual features of sebaceous and sweat glands, important for correct diagnosis.
10 citations,
November 2018 in “The Italian Journal of Pediatrics/Italian journal of pediatrics” Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
44 citations,
November 2009 in “Archives of Dermatology” CYLD mutations cause a variety of skin tumors with symptoms starting around age 16, and treatments are currently limited.
14 citations,
January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
11 citations,
November 2009 in “Sports Medicine” Irregular menstrual cycles in exercising women may be linked to energy deficiency or hormonal imbalances, requiring careful diagnosis for proper treatment.
October 2010 in “Cambridge University Press eBooks” Lifestyle changes like diet and exercise are key for treating overweight women with polycystic ovary syndrome.
77 citations,
May 2012 in “Expert Opinion on Emerging Drugs” New treatments for male hypogonadism are effective and should be personalized.
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.
2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
June 2020 in “Annals of the Rheumatic Diseases” Patients with Systemic Sclerosis have much higher levels of GDF-15, which could help predict organ involvement and guide treatment.
260 citations,
July 2010 in “Cell” Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
81 citations,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
70 citations,
January 2000 in “Hormone Research in Paediatrics” SAHA syndrome is a condition in women involving skin and hair issues, often related to hormonal imbalances, and is treated based on the underlying cause.
59 citations,
June 2008 in “Journal of The American Academy of Dermatology” The article explains the genetic causes and symptoms of various hair disorders and highlights the need for more research to find treatments.
58 citations,
June 2018 in “Scientific reports” Researchers found 15 new genetic links to skin traits in Japanese women.
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.