July 2017 in “Contemporary Endocrinology” The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” A specific gene mutation causes hair loss and potential eye issues, even if vision seems normal.
7 citations
,
January 2018 in “Neurodegenerative Diseases” Researchers found a new ABCD1 gene mutation linked to a rare brain and nerve disorder with unusual brain changes.
17 citations
,
October 2001 in “British Journal of Ophthalmology” Intralesional cidofovir might be a good alternative treatment.
3 citations
,
April 2002 in “The American Journal of Medicine” The document concludes that early diagnosis of Balint's syndrome is crucial for effective treatment and that understanding drug interactions, like between ritonavir and statins, is important for patient care.
11 citations
,
January 2020 in “BMC pediatrics” New mutations in the SLC39A4 gene found in twins help understand the genetic cause of acrodermatitis enteropathica.
9 citations
,
April 2024 in “Cureus” Vogt-Koyanagi-Harada disease affects vision and skin, mainly in people with darker skin, and is treated with steroids and immunosuppressants.
People with chronic hives should be tested for thyroid autoimmunity to manage their condition better.
16 citations
,
January 2010 in “American Journal of Neuroradiology” Specific brain and bone imaging findings can help diagnose Trichothiodystrophy.
3 citations
,
January 2022 in “Burns & Trauma” CTHRC1 helps sweat glands recover by rebuilding nearby blood vessels.
January 2024 in “Diagnostics” Long COVID causes a wide range of long-lasting symptoms that change over time and are hard to diagnose and treat.
56 citations
,
September 2010 in “Veterinary pathology” Certain mouse strains develop a skin condition similar to a human hair loss disease due to genetic defects.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” The woman's facial symptoms are best explained by primary Sjögren’s Syndrome.
Hyperthyroidism mostly affects young women and can cause heart issues, but these can improve with treatment.
4 citations
,
October 2019 in “Case Reports” A 33-year-old woman with PCOS and metabolic syndrome was unusually diagnosed with a bone condition called DISH, suggesting a possible link between these conditions.
21 citations
,
January 2018 in “Anticancer Research” NBCCS and BFHS might be the same syndrome, helping better identify and manage cases.
October 2024 in “Journal of the Endocrine Society” A woman experienced fluctuating thyroid conditions and eye disease, but her symptoms improved with treatment.
April 2024 in “Anais Brasileiros de Dermatologia” 6 citations
,
October 2006 in “International Journal of Dermatology” Hair splitting and nail detachment are linked conditions.
38 citations
,
March 2010 in “Medicine” Most patients with Porphyria Cutanea Tarda had skin blisters and were often affected by hepatitis C and alcohol abuse, with differences between familial and sporadic cases.
25 citations
,
September 2010 in “Journal of Cutaneous Medicine and Surgery” The study found that Central Centrifugal Cicatricial Alopecia mainly affects middle-aged African descent women, is linked to certain hair care practices and genetics, and often goes undiagnosed for years.
11 citations
,
January 2013 in “Indian Journal of Endocrinology and Metabolism” A woman with a rare adrenal tumor and hormonal disorder had improved testosterone levels after surgery, but her menstrual irregularities continued.
1 citations
,
January 2015 in “Case reports in endocrinology” Women with nonclassical congenital adrenal hyperplasia may have a higher risk of fertility issues and miscarriages, and should get genetic counseling.
18 citations
,
February 2006 in “Brain & development” A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
October 2020 in “Journal of the American Society of Nephrology” Drospirenone can hide symptoms of certain hormonal disorders, complicating diagnosis.
4 citations
,
June 1980 in “American Journal of Clinical Nutrition” Malnutrition can change hair color due to altered copper and zinc levels.
2 citations
,
January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
July 2022 in “Clinical dermatology review” Most patients with chronic kidney disease had skin issues like paleness and dry skin, and treating these can improve their lives.
March 2026 in “Journal of Investigative Dermatology” CCCA can occur in children and needs early diagnosis to prevent permanent hair loss.