18 citations,
May 2013 in “Annals of Dermatology” AGA increased yearly, type I most common, and family history and seborrheic dermatitis often linked.
October 2023 in “Psychiatry research. Case reports” A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
1 citations,
November 2016 in “Congenital Anomalies” Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
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.
2 citations,
June 2017 in “Journal of The American Academy of Dermatology” The type of PCOS a woman has doesn't strongly predict her skin or metabolic symptoms; obesity is a more important factor.
February 2021 in “PARIPEX INDIAN JOURNAL OF RESEARCH” Women with PCOS, especially if they are obese, are more likely to have an underactive thyroid than women without PCOS.
91 citations,
May 2005 in “The Journal of Clinical Endocrinology & Metabolism” A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
May 2023 in “Journal of Clinical Medicine” New understanding and treatments for hair loss are improving, but more research is needed.
January 2020 in “Medical journal of clinical trials & case studies” A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
33 citations,
April 2017 in “American journal of clinical dermatology” Early treatment of superficial fungal infections in immunocompromised patients is crucial.
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.
6 citations,
November 2019 in “The application of clinical genetics” The study found that a specific genetic variation in the TNFα gene is significantly linked to Alopecia Areata in the Jordanian Arab population.
18 citations,
June 2017 in “Journal of The American Academy of Dermatology” Trichoscopy helps diagnose frontal fibrosing alopecia, even with unusual patterns.
15 citations,
May 2013 in “American Journal of Medical Genetics - Part A” People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
January 2024 in “Endocrine and metabolic science” Different types of PCOS need specific diagnosis methods and treatments.
December 2021 in “Molecular genetics and genomics” Cats with abnormal hair had DSG4 gene changes causing hair problems.
14 citations,
January 2018 in “Endocrine” Cantú syndrome may be linked to pituitary adenomas.
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.
4 citations,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
257 citations,
July 2018 in “Obstetrics & Gynecology” PCOS is a complex disorder in women that can lead to various health risks and requires personalized treatment.
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.
18 citations,
January 2020 in “Frontiers in Chemistry” A new model can predict drug-disease links well, helping drug research.
4 citations,
June 2013 in “The Journal of Rheumatology” The document concludes that various findings in rheumatology offer insights into disease severity, treatment responses, and potential risks in medication, with some limitations due to unspecified participant numbers.
27 citations,
July 1997 in “PubMed” The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
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.
15 citations,
April 2003 in “Journal of Dermatological Science” Gene differences may affect baldness treatment response in Korean men.
71 citations,
May 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” TTD hair brittleness is caused by multiple structural abnormalities.
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.
October 2010 in “Cambridge University Press eBooks” Lifestyle changes like diet and exercise are key for treating overweight women with polycystic ovary syndrome.
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.