A 12-year-old girl was misdiagnosed with alopecia areata but actually had a nevus sebaceus with a genetic mutation.
September 2022 in “Translational Andrology and Urology” Finasteride may cause lasting sexual and mental health issues, and genetic screening could help prevent them.
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.
74 citations,
March 2001 in “Seminars in Cutaneous Medicine and Surgery” The document concludes that skin biopsies, genetic and environmental factors, and specific treatments are important in managing cutaneous lupus erythematosus.
4 citations,
December 2020 in “Dermatologic Therapy” Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
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.
266 citations,
November 2013 in “European Journal of Epidemiology” The Rotterdam Study aims to understand disease causes in the elderly and has found new risk factors and genetic influences on various conditions.
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.
23 citations,
April 1993 in “Gastroenterology” A mother and son both had ulcerative colitis and alopecia, suggesting a genetic link in autoimmune disorders and successful treatment with cyclosporine.
5 citations,
January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
1 citations,
November 2015 in “Indian Journal of Clinical Biochemistry” The conference presented findings on how vitamin D levels, genetic factors, and lifestyle choices like smoking and yoga affect various health conditions and diseases.
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.
February 2010 in “Journal of The American Academy of Dermatology” A woman with CHILD syndrome showed skin abnormalities, and the report suggests CHILD nevus and NEVIL might be the same condition, highlighting the need for diagnosis for genetic advice.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
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.
July 2011 in “British Journal of Dermatology” Dermatologists give better information on pathology forms, hypersensitivity vasculitis is a common skin issue, misdiagnoses can occur, and various skin conditions are linked to loss of elastin or genetic factors.
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.
June 1997 in “Australasian Journal of Dermatology” Researchers found new hair and nail genes, how hair reacts to UV, differences in white and pigmented hair growth, nerve changes in alopecia, treatments for baldness and alopecia, a toenail condition linked to a genetic disorder, and that nail fungus is more common in people with psoriasis.
13 citations,
April 1994 in “Baillière's clinical endocrinology and metabolism” Some people have genetic mutations that make them resistant to vitamin D, leading to rickets even with enough vitamin D intake.
1 citations,
November 2015 in “European medical journal” Acne is common and can be linked to various systemic health conditions and syndromes.
36 citations,
October 1996 in “Dermatologic Clinics” Mice are useful for researching human hair loss and testing treatments, despite some differences between species.
35 citations,
January 2013 in “International Journal of Trichology” Kids with early graying hair often have low levels of calcium, ferritin, and vitamin D3.
10 citations,
November 1997 in “British Journal of Dermatology” A 10-year-old boy had the earliest reported case of hair that became progressively kinkier but eventually returned to normal on its own.
1 citations,
January 2022 Autoimmune Polyendocrine Syndromes involve specific combinations of endocrine and non-endocrine autoimmune diseases.
1 citations,
August 2021 in “Medical Science Monitor” Male and female hair loss have different genetic causes.
Autoimmune Polyendocrine Syndromes involve specific combinations of autoimmune diseases.
October 2017 in “Springer eBooks” A thorough initial check-up is essential before sperm banking to ensure the best chance of preserving good quality sperm.
March 2001 in “Clinics in Dermatology” Hair disease research is a growing and evolving field in dermatology, with recent significant advances.
359 citations,
September 2017 in “European Journal of Epidemiology” The Rotterdam Study updated findings on elderly health, focusing on heart disease, genetics, lifestyle effects, and disease understanding.
247 citations,
August 2011 in “European Journal of Epidemiology” The Rotterdam Study updated its design and objectives in 2012, providing insights into various diseases in the elderly, including skin cancer, bone health, liver disease, neurological and psychiatric conditions, and respiratory issues.